Materiały źródłowe

• #1 Klippel-Trénaunay Syndrome | Doctor

  https://patient.info/doctor/klippel-trenaunay-syndrome

  How common is Klippel-Trnaunay syndrome? (Epidemiology) KT syndrome is a rare disease, affecting 1 in 20,000-40,000 children. It affects both sexes equally and is seen in all races. While it mostly occurs sporadically, some inherited cases have been reported.

• #2 Klippel-Trenaunay syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/klippel-trenaunay-syndrome/

  Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide. […] Klippel-Trenaunay syndrome is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. Studies suggest that the condition results from gene mutations that are not inherited.

• #3 A neonate with Klippel–Trénaunay syndrome: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-03029-4

  KlippelTrnaunay syndrome is a rare congenital capillarylymphaticvenous condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft-tissue hypertrophy. It has a very low incidence of about 1:100,000. […] KTS is a rare congenital capillarylymphaticvenous abnormality that usually involves a single lower extremity and consists of the triad of vascular malformations (port wine stain), atypical venous malformations, and bony and/or soft-tissue hypertrophy. Its prevalence is low or underreported with a very low incidence of about 1:100,000. It has no predilection for gender, race, or geographical area and occurs sporadically. […] Although the etiology of KTS is still unknown, damage to the sympathetic nervous system resulting in dilatation and persistence of microscopic arteriovenous anastomoses in utero is hypothesized to be the leading cause.

• #4 Klippel-Trenaunay-Weber Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK558989/

  The estimated incidence is between 2 and 5 in 100,000 and is found equally in both sexes.[5] […] Klippel Trenaunay syndrome primarily involves the capillary, venous and lymphatic systems to varying degrees with tissue and bone hypertrophy. This condition predominantly affects the lower limbs and unilaterally affects the right and left sides equally. […] Patients with Klippel-Trenaunay syndrome need to be aware of the progressive nature of this condition.

• #5 Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

  https://www.mdpi.com/2227-9067/10/8/1421

  Klippel–Trenaunay syndrome is an uncommon, complex malformation disorder presenting with a triad of capillary and venous malformations and limb hypertrophy. […] The syndrome is uncommon, and the incidence is poorly known, with no clear ethnic or sex prevalence. In general, the estimated incidence is maintained to be between 2 and 5 in 100,000 individuals and is equally distributed between both genders. […] The etiology of KTS remains not clearly established, but new hypotheses have been advanced, suggesting a genetic involvement for this sporadic condition. […] KTS is an uncommon disorder presenting capillary, venous, and lymphatic system impairment to various degrees in association with tissue and bone hypertrophy. […] The most frequent anomaly localizations are on the limbs. […] The syndrome has usually a benign course, but complications related to the various components of the syndrome may be the cause of vascular, hematological, neurological, or other severe systemic events, thus resulting in life-threatening conditions.

• #6 Easily misdiagnosed complex Klippel-Trenaunay syndrome: A case report

  https://www.wjgnet.com/2307-8960/full/v11/i4/922.htm

  Klippel-Trenaunay syndrome (KTS) is a congenital vascular malformation with a complicated etiology. It is sporadic and clinically rare in occurrence. The typical characteristics are capillary malformation (also known as port-wine stain), varicose veins and malformations, and bony and/or soft tissue hypertrophy with or without lymphatic malformation, which are known as the classic clinical triad. […] KTS is a rare disease with an incidence rate of 2-5/100000, involving multiple factors and its pathogenesis is not well understood. […] The disease is sporadic and rare and lacks any obvious aggregation tendencies of family, sex, and race. […] The clinical manifestations of KTS are extensive and diverse and chiefly include the typical triad (port-wine stains, varicose veins with or without venous malformations, and bony and/or soft tissue hypertrophy).

• #7 Klippel-Trenaunay-Weber Syndrome: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1084257-overview

  No racial predilection is documented for Klippel-Trenaunay-Weber syndrome (KTWS). […] KTWS affects females and males equally. […] KTWS presents at birth or during early infancy or childhood.

• #8 Klippel–Trénaunay syndrome

  https://dermnetnz.org/topics/klippel-trenaunay-syndrome

  KlippelTrnaunay syndrome is a rare disease, affecting one in 20,00040,000 children. It affects both sexes equally and is seen in all races. […] While it mostly occurs sporadically, some inherited cases have been reported. […] The diagnosis of KlippelTrnaunay syndrome is made clinically when two of the three classic signs of port-wine stain, varicose veins, and limb hypertrophy are present. […] Patients with KlippelTrnaunay syndrome tend to do very well. While it is not a life-threatening condition and most patients end up having normal lives, ongoing care is required. This is best provided by a multidisciplinary team of dermatologists, vascular and orthopaedic surgeons, and general surgeons.

• #9 Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

  https://www.mdpi.com/2227-9067/10/8/1421

  Klippel–Trenaunay syndrome is an uncommon, complex malformation disorder presenting with a triad of capillary and venous malformations and limb hypertrophy. […] The syndrome is uncommon, and the incidence is poorly known, with no clear ethnic or sex prevalence. In general, the estimated incidence is maintained to be between 2 and 5 in 100,000 individuals and is equally distributed between both genders. […] The etiology of KTS remains not clearly established, but new hypotheses have been advanced, suggesting a genetic involvement for this sporadic condition. […] KTS is an uncommon disorder presenting capillary, venous, and lymphatic system impairment to various degrees in association with tissue and bone hypertrophy. […] The most frequent anomaly localizations are on the limbs. […] The syndrome has usually a benign course, but complications related to the various components of the syndrome may be the cause of vascular, hematological, neurological, or other severe systemic events, thus resulting in life-threatening conditions.

• #10 Klippel-Trenaunay syndrome: Clinical manifestations, diagnosis, and management – UpToDate

  https://www.uptodate.com/contents/klippel-trenaunay-syndrome-clinical-manifestations-diagnosis-and-management/print

  Klippel-Trenaunay syndrome (KTS) is rare. Its incidence and prevalence are not known. There is no apparent ethnic or sex predilection. […] The 2018 classification of the International Society for the Study of Vascular Anomalies defines KTS as a syndrome with capillary and venous malformations as well as limb overgrowth, with or without lymphatic malformation.

• #11 A neonate with Klippel–Trénaunay syndrome: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-03029-4

  KlippelTrnaunay syndrome is a rare congenital capillarylymphaticvenous condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft-tissue hypertrophy. It has a very low incidence of about 1:100,000. […] KTS is a rare congenital capillarylymphaticvenous abnormality that usually involves a single lower extremity and consists of the triad of vascular malformations (port wine stain), atypical venous malformations, and bony and/or soft-tissue hypertrophy. Its prevalence is low or underreported with a very low incidence of about 1:100,000. It has no predilection for gender, race, or geographical area and occurs sporadically. […] Although the etiology of KTS is still unknown, damage to the sympathetic nervous system resulting in dilatation and persistence of microscopic arteriovenous anastomoses in utero is hypothesized to be the leading cause.

• #12 Klippel-Trenaunay syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/klippel-trenaunay-syndrome/

  Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide. […] Klippel-Trenaunay syndrome is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. Studies suggest that the condition results from gene mutations that are not inherited.

• #13 Klippel-Trénaunay Syndrome | Doctor

  https://patient.info/doctor/klippel-trenaunay-syndrome

  How common is Klippel-Trnaunay syndrome? (Epidemiology) KT syndrome is a rare disease, affecting 1 in 20,000-40,000 children. It affects both sexes equally and is seen in all races. While it mostly occurs sporadically, some inherited cases have been reported.

• #14 Klippel-Trenaunay-Weber Syndrome: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1084257-overview

  No racial predilection is documented for Klippel-Trenaunay-Weber syndrome (KTWS). […] KTWS affects females and males equally. […] KTWS presents at birth or during early infancy or childhood.

• #15 Klippel-Trénaunay syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/klippel-trenaunay-syndrome-1?lang=us

  Most cases of Klippel-Trnaunay syndrome are sporadic and there is no recognized gender or racial predilection. The prevalence of Klippel-Trnaunay syndrome (including Parkes Weber syndrome) is ~1:100,000. […] The diagnosis of Klippel-Trnaunay syndrome is usually made when any two of the three features are present. Patients usually present in infancy. […] It may be diagnosed in utero.

• #16 A Case of Atypical Klippel-Trenaunay Syndrome

  https://www.mdpi.com/2673-6179/1/2/7

  Klippel-Trenaunay syndrome (KTS) is a rare complex vascular syndrome with limb hypertrophy. KTS is diagnosed if at least two of the three features of capillary malformation, venous malformation, and soft tissue and/or bone overgrowth are present. […] The overall estimated incidence is about 2–5/100,000 without sex predilection. […] The clinical manifestation of KTS includes a triad of capillary malformation (e.g., port-wine stain or nevus flammeus), atypical varicose vein or venous malformation, and soft tissue or bony hypertrophy of the extremities. KTS can be diagnosed when two of the three features are present. Imaging, including computed tomography (CT), magnetic resonance imaging (MRI), venography, and ultrasonography, helps diagnose and evaluate the severity of the disease. […] The treatment is aimed at symptom management and prevention of complications, which depends on the severity of disease. Complications of KTS include gastrointestinal or genitourinary hemorrhage in cases of visceral involvement, and coagulative matters such as thrombosis and pulmonary embolism. […] We herein share a case of atypical KTS (i.e., lacking capillary malformation), which emphasizes the need of whole-body imaging and regular follow-up.

• #17 Easily misdiagnosed complex Klippel-Trenaunay syndrome: A case report

  https://www.wjgnet.com/2307-8960/full/v11/i4/922.htm

  The complete triad occurs in 63% of the patients and is either found at birth or develops during infancy and becomes more and more evident with age. […] Vascular malformations associated with KTS can affect the extremities, particularly one lower extremity and, rarely, bilateral or upper extremities. […] According to the literature, KTS marked by the involvement of both the gastrointestinal and urogenital systems is rare (about 1%) and only one case of KTS with crossed-bilateral extremity involvement has been reported. […] The clinical manifestations of KTS are extensive and diverse and chiefly include the typical triad. However, vascular malformations of KTS can also involve several parts and systems such as digestive and urogenital systems, which increases the complexity and severity of the disease. Therefore, the atypical manifestations and rare complications necessitate the clinicians attention and are not to be ignored.

• #18 Klippel-Trénaunay syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/klippel-tr-naunay-weber-syndrome?embed_domain=hackmd.io%2F%40yIPUAFeCSL2JsU8smR5nJQ%2Fbnjhjgjghjghjghfavicon.icofavicon.ico&lang=gb

  Most cases of Klippel-Trnaunay syndrome are sporadic and there is no recognised gender or racial predilection. The prevalence of Klippel-Trnaunay syndrome (including Parkes Weber syndrome) is ~1:100,000. […] The diagnosis of Klippel-Trnaunay syndrome is usually made when any two of the three features are present. Patients usually present in infancy. […] Prenatal ultrasound may diagnose Klippel-Trnaunay syndrome as early as the 15th week of gestation, based on limb hypertrophy and associated subcutaneous cystic lesions.

• #19 A neonate with Klippel–Trénaunay syndrome: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-03029-4

  A Doppler ultrasound scan during pregnancy should be performed to diagnose the hypertrophic limb and to assess the underlying cause of any cystic lesion. […] Most patients with KTS will present with the classic triad, but some clinical variations can be seen with age (childhood and adulthood); however, these are far less common. […] Extremities are mostly affected, most often unilaterally (85%), sometimes bilaterally (12.5%), and only rarely crossed-bilaterally (2.5%). […] It was reported that KTS can be associated with deep venous thrombosis, bleeding, pulmonary embolism, stasis dermatitis, cellulitis, and limb enlargement, which can lead to amputation. Currently, there is no definitive treatment of KTS approved; however, a multidisciplinary management should be focused on reducing symptoms and complications associated to the disease.

• #20 Klippel-Trenaunay Syndrome (KTS) – Vascular Birthmarks Foundation

  https://birthmark.org/birthmark/klippel-trenaunay-syndrome/

  Each case of KTS is unique. […] A mutation in the PIK3CA gene is considered the cause of KTS. […] See this abstract comparing the effects of surgical intervention, chemical intervention, and compression therapy in patients with Klippel-Trenaunay Syndrome. […] Learn more about how we can help families affected by KTS to pay for travel expenses related to its diagnosis and/or treatment: Brian C. Weber Memorial Travel Fund for KTS families.

• #21 Klippel-Trenaunay Syndrome Case | Applied Radiology

  https://appliedradiology.com/articles/klippel-trenaunay-syndrome-case

  Klippel-Trenaunay syndrome (KTS) is an uncommon pediatric disease characterized by an activating mutation in the PIK3CA gene, resulting in global or focal tissue overgrowth. […] KTS is also associated with a triad of cutaneous angiomas, venous and lymphatic abnormalities, and soft-tissue or bony hypertrophy. A diagnosis of KTS requires 2 of these 3 features. […] The expected rate of neurological disturbance is less than 2%, with permanent damage even more rare. […] KTS is a disease that, when severe, has devastating clinical consequences, including severe bleeding, deep-vein thrombosis, and pulmonary emboli. […] When KTS is suspected in a child with unilateral extremity overgrowth, imaging will help identify the problematic embryonic vein(s), both the LMV and the PSV. […] Treatment for this syndrome has historically been surgical, which can be associated with significant complications. New minimally invasive techniques, including RFA, EVLT, and sclerotherapy, have expanded treatment options with fewer complications.

• #22 Orphanet: Klippel-Trénaunay syndrome

  https://www.orpha.net/en/disease/detail/90308

  A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage. […] The prevalence of Klippel-Trnaunay syndrome (KTS) is unknown. KTS is one of the overgrowth syndromes associated with a PIK3CA variant, also known as PROS (for PIK3CA-related overgrowth spectrum), which affects over 500 patients in France.

• #23 Pathology Outlines – Hemangioma & variants

  https://www.pathologyoutlines.com/topic/softtissuehemangioma.html

  Most common tumor of childhood and infancy (Goldblum: Enzinger and Weiss’s Soft Tissue Tumors, 7th Edition, 2019) […] Common in Klippel-Trenaunay syndrome, PHACE syndrome and LUMBAR syndrome (Surg Neurol Int 2018;9:205, StatPearls: PHACE Syndrome [Acessed 13 October 2021], Med Arch 2021;75:158, Actas Dermosifiliogr 2017;108:475) […] RASA1 mutations: arteriovenous malformations, Klippel-Trenaunay syndrome, Sturge-Weber syndrome, Parker-Weber syndrome (Am J Hum Genet 2003;73:1240, Br J Dermatol 2008;158:1035, Hereditas 2018;155:24)

• #24 A neonate with Klippel–Trénaunay syndrome: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-03029-4

  KlippelTrnaunay syndrome is a rare congenital capillarylymphaticvenous condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft-tissue hypertrophy. It has a very low incidence of about 1:100,000. […] KTS is a rare congenital capillarylymphaticvenous abnormality that usually involves a single lower extremity and consists of the triad of vascular malformations (port wine stain), atypical venous malformations, and bony and/or soft-tissue hypertrophy. Its prevalence is low or underreported with a very low incidence of about 1:100,000. It has no predilection for gender, race, or geographical area and occurs sporadically. […] Although the etiology of KTS is still unknown, damage to the sympathetic nervous system resulting in dilatation and persistence of microscopic arteriovenous anastomoses in utero is hypothesized to be the leading cause.

• #25 Klippel-Trenaunay-Weber Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK558989/

  The estimated incidence is between 2 and 5 in 100,000 and is found equally in both sexes.[5] […] Klippel Trenaunay syndrome primarily involves the capillary, venous and lymphatic systems to varying degrees with tissue and bone hypertrophy. This condition predominantly affects the lower limbs and unilaterally affects the right and left sides equally. […] Patients with Klippel-Trenaunay syndrome need to be aware of the progressive nature of this condition.

• #26 A neonate with Klippel–Trénaunay syndrome: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-03029-4

  A Doppler ultrasound scan during pregnancy should be performed to diagnose the hypertrophic limb and to assess the underlying cause of any cystic lesion. […] Most patients with KTS will present with the classic triad, but some clinical variations can be seen with age (childhood and adulthood); however, these are far less common. […] Extremities are mostly affected, most often unilaterally (85%), sometimes bilaterally (12.5%), and only rarely crossed-bilaterally (2.5%). […] It was reported that KTS can be associated with deep venous thrombosis, bleeding, pulmonary embolism, stasis dermatitis, cellulitis, and limb enlargement, which can lead to amputation. Currently, there is no definitive treatment of KTS approved; however, a multidisciplinary management should be focused on reducing symptoms and complications associated to the disease.

• #27 Klippel-Trenaunay-Weber Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK558989/

  The estimated incidence is between 2 and 5 in 100,000 and is found equally in both sexes.[5] […] Klippel Trenaunay syndrome primarily involves the capillary, venous and lymphatic systems to varying degrees with tissue and bone hypertrophy. This condition predominantly affects the lower limbs and unilaterally affects the right and left sides equally. In rare cases, upper extremity, head and neck area, and bilateral involvement may be seen.[6] […] Patients with Klippel-Trenaunay syndrome need to be aware of the progressive nature of this condition. In children who are diagnosed with KTS, parents need to be educated on possible complications and to ensure close follow-up to monitor for limb length discrepancy and timely management.

• #28 Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

  https://www.mdpi.com/2227-9067/10/8/1421

  The cutaneous vascular malformations are usually present at birth, whereas venous varicosities and limb hypertrophy are seen subsequently with an average age of presentation at 4–6 years. […] Clinical complications affecting various organs have been reported in individuals with KTS. […] The gastrointestinal system involvement may cause abdominal pain, bleeding from mild to severe, usually linked to venous malformations and varicosities. […] Venous thromboembolism is a severe pulmonary complication in KTS patients, which may be followed by pulmonary hypertension and by right heart failure. […] In KTS patients, various types of cancers have been reported. […] The course of the disorder is usually good, particularly in younger age groups, but may become severe, depending on the underlying conditions associated with the syndrome. […] KTS is a very complex disorder with a wide variety of clinical expressions. […] The inclusion of the KTS within the PROS group may be useful to reach new advances in the etiopathogenetic factors of the KTS.

• #29 A neonate with Klippel–Trénaunay syndrome: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-03029-4

  A Doppler ultrasound scan during pregnancy should be performed to diagnose the hypertrophic limb and to assess the underlying cause of any cystic lesion. […] Most patients with KTS will present with the classic triad, but some clinical variations can be seen with age (childhood and adulthood); however, these are far less common. […] Extremities are mostly affected, most often unilaterally (85%), sometimes bilaterally (12.5%), and only rarely crossed-bilaterally (2.5%). […] It was reported that KTS can be associated with deep venous thrombosis, bleeding, pulmonary embolism, stasis dermatitis, cellulitis, and limb enlargement, which can lead to amputation. Currently, there is no definitive treatment of KTS approved; however, a multidisciplinary management should be focused on reducing symptoms and complications associated to the disease.

• #30 Klippel-Trenaunay Syndrome (KTS) – Vascular Birthmarks Foundation

  https://birthmark.org/birthmark/klippel-trenaunay-syndrome/

  Each case of KTS is unique. […] A mutation in the PIK3CA gene is considered the cause of KTS. […] See this abstract comparing the effects of surgical intervention, chemical intervention, and compression therapy in patients with Klippel-Trenaunay Syndrome. […] Learn more about how we can help families affected by KTS to pay for travel expenses related to its diagnosis and/or treatment: Brian C. Weber Memorial Travel Fund for KTS families.

• #31

  https://link.springer.com/article/10.1007/s11596-018-1964-4

  Klippel-Trnaunay syndrome (KTS) is a rare angio-osteo-hypertrophic syndrome characterized by vascular malformations, soft tissue and/or bone hypertrophy, and varicose veins. […] We have concluded that medical imaging is the cornerstone in the diagnosis and assessment of severity and complications, follow-up and differentiation of KTS from other similar conditions. Different imaging modalities play complementary roles in the evaluation of KTS patients.

• #32 Spectrum of imaging findings in Klippel-Trenaunay syndrome affecting lower limbs: a report of three cases | Egyptian Journal of Radiology and Nuclear Medicine | Full Text

  https://ejrnm.springeropen.com/articles/10.1186/s43055-019-0123-7

  The management of KTS is mainly conservative and usually, patients have to be on lifelong follow-up. […] A high degree of suspicion is required for diagnosis of KTS and suspicion should be raised in the presence of few salient imaging findings such as history since birth, unilateral limb hypertrophy, and atypical distribution of varices, which may show intramuscular and intraosseous extension. […] The imaging evaluation of the superficial venous system should be aimed at recognizing the unusual distribution of varicosities of low-flow venous malformations and identification of persistent embryological veins such as lateral marginal vein. […] Our series also demonstrates the utility of obtaining a supplementary CT or, preferably, MR venography to evaluate the complete extent of the disease which may affect the underlying bones or viscera.

• #33 A Case of Atypical Klippel-Trenaunay Syndrome

  https://www.mdpi.com/2673-6179/1/2/7

  Klippel-Trenaunay syndrome (KTS) is a rare complex vascular syndrome with limb hypertrophy. KTS is diagnosed if at least two of the three features of capillary malformation, venous malformation, and soft tissue and/or bone overgrowth are present. […] The overall estimated incidence is about 2–5/100,000 without sex predilection. […] The clinical manifestation of KTS includes a triad of capillary malformation (e.g., port-wine stain or nevus flammeus), atypical varicose vein or venous malformation, and soft tissue or bony hypertrophy of the extremities. KTS can be diagnosed when two of the three features are present. Imaging, including computed tomography (CT), magnetic resonance imaging (MRI), venography, and ultrasonography, helps diagnose and evaluate the severity of the disease. […] The treatment is aimed at symptom management and prevention of complications, which depends on the severity of disease. Complications of KTS include gastrointestinal or genitourinary hemorrhage in cases of visceral involvement, and coagulative matters such as thrombosis and pulmonary embolism. […] We herein share a case of atypical KTS (i.e., lacking capillary malformation), which emphasizes the need of whole-body imaging and regular follow-up.

• #34 Klippel-Trenaunay syndrome (KTS): A report of two patients and review of literature in: Imaging Volume 13 Issue 1 (2021)

  https://akjournals.com/view/journals/1647/13/1/article-p80.xml

  Klippel-Trenaunay syndrome (KTS) is an uncommon congenital condition, resulting in vascular malformations affecting capillary, venous, and lymphatic systems and bone and/or soft tissue hypertrophy. Magnetic Resonance Angiography (MRA) may be useful in assessing the severity of the disease and for treatment planning. […] KTS is a complex disorder whose true prevalence and etiology are still unknown. In most cases the emblematic clinical manifestation consisting in vascular malformations and extremity overgrowth is represented. […] Its incidence is about 1:100.000 with no ethnic or sex predilection and usually affects unilateral lower limb; however, various systemic organs may be involved. […] Imaging techniques are mandatory to assess its severity and choice the treatment strategy. […] The diagnosis of KTS is clinical but imaging techniques may be helpful to confirm the diagnosis and to choose the treatment. […] MRA is the imaging modality of choice for assessing the extent of vascular malformations, their relationship with adjacent structures and for pre-operative planning. […] In conclusion, imaging should guide any therapeutic option to have a comprehensive overview of the situation.

• #35 Klippel-Trenaunay syndrome (KTS): A report of two patients and review of literature in: Imaging Volume 13 Issue 1 (2021)

  https://akjournals.com/view/journals/1647/13/1/article-p80.xml

  Klippel-Trenaunay syndrome (KTS) is an uncommon congenital condition, resulting in vascular malformations affecting capillary, venous, and lymphatic systems and bone and/or soft tissue hypertrophy. Magnetic Resonance Angiography (MRA) may be useful in assessing the severity of the disease and for treatment planning. […] KTS is a complex disorder whose true prevalence and etiology are still unknown. In most cases the emblematic clinical manifestation consisting in vascular malformations and extremity overgrowth is represented. […] Its incidence is about 1:100.000 with no ethnic or sex predilection and usually affects unilateral lower limb; however, various systemic organs may be involved. […] Imaging techniques are mandatory to assess its severity and choice the treatment strategy. […] The diagnosis of KTS is clinical but imaging techniques may be helpful to confirm the diagnosis and to choose the treatment. […] MRA is the imaging modality of choice for assessing the extent of vascular malformations, their relationship with adjacent structures and for pre-operative planning. […] In conclusion, imaging should guide any therapeutic option to have a comprehensive overview of the situation.

• #36 Spectrum of imaging findings in Klippel-Trenaunay syndrome affecting lower limbs: a report of three cases | Egyptian Journal of Radiology and Nuclear Medicine | Full Text

  https://ejrnm.springeropen.com/articles/10.1186/s43055-019-0123-7

  Klippel-Trenaunay syndrome (KTS) is a rare disorder (estimated incidence 35/100,000) characterized by a triad of vascular malformation, venous varicosities, and limb hypertrophy. […] Superficial venous malformations of the unilateral lower limbs or varicosities in unusual distribution are the most common findings but deeper extension into the underlying muscle, bone, or even visceral organs like the spleen, liver, pleura, urinary bladder, or colon (submucosal varices) also have been reported. […] Although conventional venography is a gold standard procedure, due to its invasive nature, it has been largely replaced by other noninvasive modalities such as color Doppler, CT, or MR venography. […] The presence of varicosities in an unusual location (like lateral aspect of the leg) and deep venous anomalies are highly indicative of Klippel-Trenaunay syndrome.

• #37 Spectrum of imaging findings in Klippel-Trenaunay syndrome affecting lower limbs: a report of three cases | Egyptian Journal of Radiology and Nuclear Medicine | Full Text

  https://ejrnm.springeropen.com/articles/10.1186/s43055-019-0123-7

  Klippel-Trenaunay syndrome (KTS) is a rare disorder (estimated incidence 35/100,000) characterized by a triad of vascular malformation, venous varicosities, and limb hypertrophy. […] Superficial venous malformations of the unilateral lower limbs or varicosities in unusual distribution are the most common findings but deeper extension into the underlying muscle, bone, or even visceral organs like the spleen, liver, pleura, urinary bladder, or colon (submucosal varices) also have been reported. […] Although conventional venography is a gold standard procedure, due to its invasive nature, it has been largely replaced by other noninvasive modalities such as color Doppler, CT, or MR venography. […] The presence of varicosities in an unusual location (like lateral aspect of the leg) and deep venous anomalies are highly indicative of Klippel-Trenaunay syndrome.

• #38 Klippel-Trenaunay-Weber Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK558989/

  The estimated incidence is between 2 and 5 in 100,000 and is found equally in both sexes.[5] […] Klippel Trenaunay syndrome primarily involves the capillary, venous and lymphatic systems to varying degrees with tissue and bone hypertrophy. This condition predominantly affects the lower limbs and unilaterally affects the right and left sides equally. […] Patients with Klippel-Trenaunay syndrome need to be aware of the progressive nature of this condition.

• #39 RRH: Rural and Remote Health article: 5348 – Klippel–Trénaunay syndrome: a case report of a rare vascular disorder identified in a rural Canadian hospital

  https://www.rrh.org.au/journal/article/5348/

  KlippelTrnaunay syndrome (KTS) is a very rare congenital vascular anomaly. […] Although clinical characteristics of KTS are well known, the epidemiology and pathophysiology still remain to be defined. […] Despite the well-defined and described clinical features of KTS, the epidemiological data are still unsatisfactory. […] An awareness of the panorama of vascular anomalies will allow for earlier recognition and management of these rare conditions, even in areas where advanced healthcare services or specialists are not available. […] For physicians in rural areas managing patients with KTS, identification is important in order to manage possible complications. […] These complications can include coagulopathy, thromboembolism and thrombophlebitis. […] A previous study revealed that, in a cohort of 75 KTS patients, 29 patients (39%) had had thromboembolic complications.

• #40 Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

  https://www.mdpi.com/2227-9067/10/8/1421

  The cutaneous vascular malformations are usually present at birth, whereas venous varicosities and limb hypertrophy are seen subsequently with an average age of presentation at 4–6 years. […] Clinical complications affecting various organs have been reported in individuals with KTS. […] The gastrointestinal system involvement may cause abdominal pain, bleeding from mild to severe, usually linked to venous malformations and varicosities. […] Venous thromboembolism is a severe pulmonary complication in KTS patients, which may be followed by pulmonary hypertension and by right heart failure. […] In KTS patients, various types of cancers have been reported. […] The course of the disorder is usually good, particularly in younger age groups, but may become severe, depending on the underlying conditions associated with the syndrome. […] KTS is a very complex disorder with a wide variety of clinical expressions. […] The inclusion of the KTS within the PROS group may be useful to reach new advances in the etiopathogenetic factors of the KTS.

• #41 RRH: Rural and Remote Health article: 5348 – Klippel–Trénaunay syndrome: a case report of a rare vascular disorder identified in a rural Canadian hospital

  https://www.rrh.org.au/journal/article/5348/

  It should be noted that the patient in this case previously had an episode of thrombophlebitis on the affected limb. […] Laboratory investigations in this patient revealed only hyperuricemia. […] Further studies should be undertaken to determine if and how KTS is associated with hyperuricemia and PAH. […] Another possible complication of KTS is bleeding from abnormal vessels. […] The fact that the patient was diagnosed at an advanced age clearly demonstrates the need of early diagnostic tools in suspected patients to prevent or decelerate possible complications. […] Awareness of the breadth of congenital vascular anomalies and the impact of their possible complications are critical for the rural and remote physician in delivering safe and effective health care.

• #42 Gastrointestinal involvement in Klippel-Trénaunay syndrome: pathophysiology, evaluation, and management | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02857-5

  Klippel-Trnaunay syndrome is typically a complex combined capillary-lymphatic-venous malformation in lower limb. Gastrointestinal involvement is not infrequent in Klippel-Trnaunay syndrome. Rectal bleeding is the most common complication. In recent years, this condition has been increasingly reported. However, most authors simply described extreme manifestations or various combinations of clinical observations. The underlying pathophysiology of gastrointestinal involvement in Klippel-Trnaunay syndrome has been underrecognized. Pathophysiologically, some seemingly adequate managements are pitfalls in treatment. Gastrointestinal involvement is common in KTS patients, which can be a source of significant morbidity and even mortality. Its incidence is underestimated, may be as high as over 30% in patients with KTS. Gastrointestinal involvement is typically presented with edematous and thickened colorectum by the venous malformation (VM) network around and intra-wall. These VMs can cause recurrent rectal bleeding, ranging from occult to massive, and life-threatening hemorrhages. Conservative management has been successfully used in many patients to manage iron deficiency anemia from bleeding. Invasive treatments included surgical resection of involved bowel, and interventional approaches, and increasingly reported sclerotherapy. Many gastrointestinal VM patients with KTS have been reported, however, most authors only simply illustrated extreme manifestations or depicted various interesting combinations of signs, symptoms, laboratory parameters, and images of disease. Since the complexity and underrecognized pathophysiology of KTS with pelvis and gastrointestinal involvement, various treatments have not been integrated into a whole management strategy. There are no current recommendations for managing of gastrointestinal VM in KTS. In some instance, some seemingly adequate treatments may be contraindicated. KTS can also affect spleen and portal vein system. Generally, several treatments can be used to treat portal hypertension, including portosystemic shunt or mesenterico-Rex shunt, however, primary shunt may be contraindicated if the inferior mesenteric vein (IMV) involved in KTS. Practitioners need to be aware of the underlying pathophysiology of gastrointestinal VM in KTS patients, in order to improve managements. We discuss the pathophysiologies, pitfalls, and propose evaluation and treatment strategy that can help in managing KTS with gastrointestinal VM. Portal hypertension has been reported in KTS patients, but the underlying pathophysiology we discussed above is underrecognized in literature. The IMV, a usually overlooked vein system in patients with portal hypertension should be re-looked in patients with anorectosigmoid VM.

• #43 Orphanet: Klippel-Trénaunay syndrome

  https://www.orpha.net/en/disease/detail/90308

  A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage. […] The prevalence of Klippel-Trnaunay syndrome (KTS) is unknown. KTS is one of the overgrowth syndromes associated with a PIK3CA variant, also known as PROS (for PIK3CA-related overgrowth spectrum), which affects over 500 patients in France.

• #44 Klippel-Trenaunay-Weber Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK558989/

  The estimated incidence is between 2 and 5 in 100,000 and is found equally in both sexes.[5] […] Klippel Trenaunay syndrome primarily involves the capillary, venous and lymphatic systems to varying degrees with tissue and bone hypertrophy. This condition predominantly affects the lower limbs and unilaterally affects the right and left sides equally. In rare cases, upper extremity, head and neck area, and bilateral involvement may be seen.[6] […] Patients with Klippel-Trenaunay syndrome need to be aware of the progressive nature of this condition. In children who are diagnosed with KTS, parents need to be educated on possible complications and to ensure close follow-up to monitor for limb length discrepancy and timely management.

• #45 Gastrointestinal involvement in Klippel-Trénaunay syndrome: pathophysiology, evaluation, and management | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02857-5

  Klippel-Trnaunay syndrome is typically a complex combined capillary-lymphatic-venous malformation in lower limb. Gastrointestinal involvement is not infrequent in Klippel-Trnaunay syndrome. Rectal bleeding is the most common complication. In recent years, this condition has been increasingly reported. However, most authors simply described extreme manifestations or various combinations of clinical observations. The underlying pathophysiology of gastrointestinal involvement in Klippel-Trnaunay syndrome has been underrecognized. Pathophysiologically, some seemingly adequate managements are pitfalls in treatment. Gastrointestinal involvement is common in KTS patients, which can be a source of significant morbidity and even mortality. Its incidence is underestimated, may be as high as over 30% in patients with KTS. Gastrointestinal involvement is typically presented with edematous and thickened colorectum by the venous malformation (VM) network around and intra-wall. These VMs can cause recurrent rectal bleeding, ranging from occult to massive, and life-threatening hemorrhages. Conservative management has been successfully used in many patients to manage iron deficiency anemia from bleeding. Invasive treatments included surgical resection of involved bowel, and interventional approaches, and increasingly reported sclerotherapy. Many gastrointestinal VM patients with KTS have been reported, however, most authors only simply illustrated extreme manifestations or depicted various interesting combinations of signs, symptoms, laboratory parameters, and images of disease. Since the complexity and underrecognized pathophysiology of KTS with pelvis and gastrointestinal involvement, various treatments have not been integrated into a whole management strategy. There are no current recommendations for managing of gastrointestinal VM in KTS. In some instance, some seemingly adequate treatments may be contraindicated. KTS can also affect spleen and portal vein system. Generally, several treatments can be used to treat portal hypertension, including portosystemic shunt or mesenterico-Rex shunt, however, primary shunt may be contraindicated if the inferior mesenteric vein (IMV) involved in KTS. Practitioners need to be aware of the underlying pathophysiology of gastrointestinal VM in KTS patients, in order to improve managements. We discuss the pathophysiologies, pitfalls, and propose evaluation and treatment strategy that can help in managing KTS with gastrointestinal VM. Portal hypertension has been reported in KTS patients, but the underlying pathophysiology we discussed above is underrecognized in literature. The IMV, a usually overlooked vein system in patients with portal hypertension should be re-looked in patients with anorectosigmoid VM.

• #46 Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

  https://www.mdpi.com/2227-9067/10/8/1421

  The cutaneous vascular malformations are usually present at birth, whereas venous varicosities and limb hypertrophy are seen subsequently with an average age of presentation at 4–6 years. […] Clinical complications affecting various organs have been reported in individuals with KTS. […] The gastrointestinal system involvement may cause abdominal pain, bleeding from mild to severe, usually linked to venous malformations and varicosities. […] Venous thromboembolism is a severe pulmonary complication in KTS patients, which may be followed by pulmonary hypertension and by right heart failure. […] In KTS patients, various types of cancers have been reported. […] The course of the disorder is usually good, particularly in younger age groups, but may become severe, depending on the underlying conditions associated with the syndrome. […] KTS is a very complex disorder with a wide variety of clinical expressions. […] The inclusion of the KTS within the PROS group may be useful to reach new advances in the etiopathogenetic factors of the KTS.

• #47 Frontiers | Uterine Involvement in Klippel–Trenaunay Syndrome: A Rare But Relevant Event. Review of the Literature

  https://www.frontiersin.org/journals/surgery/articles/10.3389/fsurg.2022.893320/full

  There are no univocal and clear guidelines that suggest the most adequate monitoring of the possible complications of the disease. […] The involvement of the urinary tract is up to 10% and hematuria, which occurs in more severe cases, is usually the initial clinical manifestation. […] The diagnosis is confirmed by radiological and cystoscopic studies. CT scan or MRI of the abdomen and pelvis evaluates the extent of vascular lesions and infiltration of deeper tissues. […] The treatment of KTS-associated gross hematuria is still an object of study and is based on observation or surgical excision. […] In a study of 218 patients with KTS conducted by Husmann et al., only five patients had severe menorrhagia, and four of these had significant vaginal or uterine vascular abnormalities. […] Menorrhagia secondary to KTS vascular lesions can be well controlled with hormonal therapy (LHRH analogs and progestogens), but in the presence of recurrent bleeding requiring repetitive hospitalization or massive hemorrhage resistant to transfusion, surgery may be needed.

• #48 Frontiers | Uterine Involvement in Klippel–Trenaunay Syndrome: A Rare But Relevant Event. Review of the Literature

  https://www.frontiersin.org/journals/surgery/articles/10.3389/fsurg.2022.893320/full

  There are no univocal and clear guidelines that suggest the most adequate monitoring of the possible complications of the disease. […] The involvement of the urinary tract is up to 10% and hematuria, which occurs in more severe cases, is usually the initial clinical manifestation. […] The diagnosis is confirmed by radiological and cystoscopic studies. CT scan or MRI of the abdomen and pelvis evaluates the extent of vascular lesions and infiltration of deeper tissues. […] The treatment of KTS-associated gross hematuria is still an object of study and is based on observation or surgical excision. […] In a study of 218 patients with KTS conducted by Husmann et al., only five patients had severe menorrhagia, and four of these had significant vaginal or uterine vascular abnormalities. […] Menorrhagia secondary to KTS vascular lesions can be well controlled with hormonal therapy (LHRH analogs and progestogens), but in the presence of recurrent bleeding requiring repetitive hospitalization or massive hemorrhage resistant to transfusion, surgery may be needed.

• #49 Orphanet: Klippel-Trénaunay syndrome

  https://www.orpha.net/en/disease/detail/90308

  Because of the multisystemic involvement, patient management requires multi-disciplinary care by expert teams, with at least one annual physical examination, and further investigations may be needed based on clinical presentation. Screening for Wilms tumor is not needed when the risk is less than 5%. Therapeutic management consists of preventing and treating complications: medical management of inflammatory or painful flare-ups, thromboembolic complications, superficial or non-disabling vascular malformations, correction of lower limb length discrepancy, and of a possibly associated scoliosis. […] The clinical presentation of the disease can be highly variable. Treatment with alpelisib changes the prognosis when a PIK3CA variant was identified.

• #50 Orphanet: Klippel-Trénaunay syndrome

  https://www.orpha.net/en/disease/detail/90308

  Because of the multisystemic involvement, patient management requires multi-disciplinary care by expert teams, with at least one annual physical examination, and further investigations may be needed based on clinical presentation. Screening for Wilms tumor is not needed when the risk is less than 5%. Therapeutic management consists of preventing and treating complications: medical management of inflammatory or painful flare-ups, thromboembolic complications, superficial or non-disabling vascular malformations, correction of lower limb length discrepancy, and of a possibly associated scoliosis. […] The clinical presentation of the disease can be highly variable. Treatment with alpelisib changes the prognosis when a PIK3CA variant was identified.

• #51 A rare case of Klippel–Trenaunay syndrome in a neonate – Karnataka Paediatric Journal

  https://iap-kpj.org/a-rare-case-of-klippeltrenaunay-syndrome-in-a-neonate/

  KlippelTrenaunay syndrome (KTS) is a rare congenital disorder with an incidence of 35/1,00,000. It is characterised by the clinical triad constituting vascular malformation of capillaries (port wine stain), venous varicosities and sometimes lymphatic types, bone and soft-tissue hypertrophy. […] The aetiology of KTS remains unknown. KTS is most commonly a sporadic event. […] Diagnosis of KTS is mainly clinical. Investigations in KTS focus on the evaluation of the type, extent and severity of malformation and confirm the absence of any clinically significant arteriovenous shunting. Imaging plays an important role in the diagnosis and evaluation of KTS. […] KTS treatment involves a multi-disciplinary approach, consultation with a paediatrician, dermatologist, interventional radiologist, plastic surgeon, orthopaedic surgeon, vascular surgeon, haematology, urology and gastroenterology is required.

• #52 Klippel-Trenaunay-Weber Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK558989/

  The estimated incidence is between 2 and 5 in 100,000 and is found equally in both sexes.[5] […] Klippel Trenaunay syndrome primarily involves the capillary, venous and lymphatic systems to varying degrees with tissue and bone hypertrophy. This condition predominantly affects the lower limbs and unilaterally affects the right and left sides equally. In rare cases, upper extremity, head and neck area, and bilateral involvement may be seen.[6] […] Patients with Klippel-Trenaunay syndrome need to be aware of the progressive nature of this condition. In children who are diagnosed with KTS, parents need to be educated on possible complications and to ensure close follow-up to monitor for limb length discrepancy and timely management.

• #53 Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

  https://www.mdpi.com/2227-9067/10/8/1421

  The cutaneous vascular malformations are usually present at birth, whereas venous varicosities and limb hypertrophy are seen subsequently with an average age of presentation at 4–6 years. […] Clinical complications affecting various organs have been reported in individuals with KTS. […] The gastrointestinal system involvement may cause abdominal pain, bleeding from mild to severe, usually linked to venous malformations and varicosities. […] Venous thromboembolism is a severe pulmonary complication in KTS patients, which may be followed by pulmonary hypertension and by right heart failure. […] In KTS patients, various types of cancers have been reported. […] The course of the disorder is usually good, particularly in younger age groups, but may become severe, depending on the underlying conditions associated with the syndrome. […] KTS is a very complex disorder with a wide variety of clinical expressions. […] The inclusion of the KTS within the PROS group may be useful to reach new advances in the etiopathogenetic factors of the KTS.

• #54 Frontiers | Uterine Involvement in Klippel–Trenaunay Syndrome: A Rare But Relevant Event. Review of the Literature

  https://www.frontiersin.org/journals/surgery/articles/10.3389/fsurg.2022.893320/full

  The prognosis is linked to the presence of complications that appear to be more common when the cutaneous vascular anomalies are localized to the trunk or abdomen and have a map shape. […] Most of the authors focus on specific aspects of the syndrome such as urological and gynecological complications, on radiological diagnostics or on the genetic peculiarities of the disease.

• #55 Frontiers | Uterine Involvement in Klippel–Trenaunay Syndrome: A Rare But Relevant Event. Review of the Literature

  https://www.frontiersin.org/journals/surgery/articles/10.3389/fsurg.2022.893320/full

  There are no univocal and clear guidelines that suggest the most adequate monitoring of the possible complications of the disease. […] The involvement of the urinary tract is up to 10% and hematuria, which occurs in more severe cases, is usually the initial clinical manifestation. […] The diagnosis is confirmed by radiological and cystoscopic studies. CT scan or MRI of the abdomen and pelvis evaluates the extent of vascular lesions and infiltration of deeper tissues. […] The treatment of KTS-associated gross hematuria is still an object of study and is based on observation or surgical excision. […] In a study of 218 patients with KTS conducted by Husmann et al., only five patients had severe menorrhagia, and four of these had significant vaginal or uterine vascular abnormalities. […] Menorrhagia secondary to KTS vascular lesions can be well controlled with hormonal therapy (LHRH analogs and progestogens), but in the presence of recurrent bleeding requiring repetitive hospitalization or massive hemorrhage resistant to transfusion, surgery may be needed.

• #56 RRH: Rural and Remote Health article: 5348 – Klippel–Trénaunay syndrome: a case report of a rare vascular disorder identified in a rural Canadian hospital

  https://www.rrh.org.au/journal/article/5348/

  It should be noted that the patient in this case previously had an episode of thrombophlebitis on the affected limb. […] Laboratory investigations in this patient revealed only hyperuricemia. […] Further studies should be undertaken to determine if and how KTS is associated with hyperuricemia and PAH. […] Another possible complication of KTS is bleeding from abnormal vessels. […] The fact that the patient was diagnosed at an advanced age clearly demonstrates the need of early diagnostic tools in suspected patients to prevent or decelerate possible complications. […] Awareness of the breadth of congenital vascular anomalies and the impact of their possible complications are critical for the rural and remote physician in delivering safe and effective health care.

• #57 Klippel–Trénaunay syndrome

  https://dermnetnz.org/topics/klippel-trenaunay-syndrome

  KlippelTrnaunay syndrome is a rare disease, affecting one in 20,00040,000 children. It affects both sexes equally and is seen in all races. […] While it mostly occurs sporadically, some inherited cases have been reported. […] The diagnosis of KlippelTrnaunay syndrome is made clinically when two of the three classic signs of port-wine stain, varicose veins, and limb hypertrophy are present. […] Patients with KlippelTrnaunay syndrome tend to do very well. While it is not a life-threatening condition and most patients end up having normal lives, ongoing care is required. This is best provided by a multidisciplinary team of dermatologists, vascular and orthopaedic surgeons, and general surgeons.

• #58 Klippel-Trenaunay syndrome | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/klippel-trenaunay-syndrome/

  Klippel-Trenaunay syndrome is a rare condition, affecting about one in every 20,000 to 40,000 children. […] Klippel-Trenaunay syndrome itself cannot be treated but the symptoms associated with it can be improved to a great extent. […] As the severity of symptoms of Klippel-Trenaunay syndrome varies from child to child, a multidisciplinary team often provides the best care. Regular reviews with dermatologists, orthopaedic, vascular and general surgeons will be needed, often until the child is a teenager. Klippel-Trenaunay syndrome is a lifelong condition, needing ongoing care and treatment, so a child will need to transfer to adult services when he or she reaches 16 to 18 years old.

• #59 Klippel-Trénaunay Syndrome – Seattle Children’s

  https://www.seattlechildrens.org/conditions/klippel-trenaunay-syndrome-kts/

  Klippel-Trenaunay syndrome (KTS) is a rare disorder that is present at birth (congenital). […] Our Vascular Anomalies Program is nationally known for treating children with KTS and other vascular disorders. […] Few hospitals have our experience treating children with KTS. Because it is so rare, doctors with less experience might not manage KTS correctly or may overlook related problems. […] A correct diagnosis is the first step toward improving your child’s condition. We have the expertise to accurately diagnose your child. […] Our physician-scientists have created a way to test patients tissue and body fluids for the genetic changes known to cause vascular anomaly syndromes. […] This testing may help us identify the abnormal gene causing your child’s condition. […] Our genetic testing expertise helps us create new therapies that we offer in research studies called clinical trials. […] We treat your whole child.

• #60 Orphanet: Klippel-Trénaunay syndrome

  https://www.orpha.net/en/disease/detail/90308

  Because of the multisystemic involvement, patient management requires multi-disciplinary care by expert teams, with at least one annual physical examination, and further investigations may be needed based on clinical presentation. Screening for Wilms tumor is not needed when the risk is less than 5%. Therapeutic management consists of preventing and treating complications: medical management of inflammatory or painful flare-ups, thromboembolic complications, superficial or non-disabling vascular malformations, correction of lower limb length discrepancy, and of a possibly associated scoliosis. […] The clinical presentation of the disease can be highly variable. Treatment with alpelisib changes the prognosis when a PIK3CA variant was identified.

• #61 Orphanet: Klippel-Trénaunay syndrome

  https://www.orpha.net/en/disease/detail/90308

  Because of the multisystemic involvement, patient management requires multi-disciplinary care by expert teams, with at least one annual physical examination, and further investigations may be needed based on clinical presentation. Screening for Wilms tumor is not needed when the risk is less than 5%. Therapeutic management consists of preventing and treating complications: medical management of inflammatory or painful flare-ups, thromboembolic complications, superficial or non-disabling vascular malformations, correction of lower limb length discrepancy, and of a possibly associated scoliosis. […] The clinical presentation of the disease can be highly variable. Treatment with alpelisib changes the prognosis when a PIK3CA variant was identified.

• #62 Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

  https://www.mdpi.com/2227-9067/10/8/1421

  The cutaneous vascular malformations are usually present at birth, whereas venous varicosities and limb hypertrophy are seen subsequently with an average age of presentation at 4–6 years. […] Clinical complications affecting various organs have been reported in individuals with KTS. […] The gastrointestinal system involvement may cause abdominal pain, bleeding from mild to severe, usually linked to venous malformations and varicosities. […] Venous thromboembolism is a severe pulmonary complication in KTS patients, which may be followed by pulmonary hypertension and by right heart failure. […] In KTS patients, various types of cancers have been reported. […] The course of the disorder is usually good, particularly in younger age groups, but may become severe, depending on the underlying conditions associated with the syndrome. […] KTS is a very complex disorder with a wide variety of clinical expressions. […] The inclusion of the KTS within the PROS group may be useful to reach new advances in the etiopathogenetic factors of the KTS.

• #63 RRH: Rural and Remote Health article: 5348 – Klippel–Trénaunay syndrome: a case report of a rare vascular disorder identified in a rural Canadian hospital

  https://www.rrh.org.au/journal/article/5348/

  It should be noted that the patient in this case previously had an episode of thrombophlebitis on the affected limb. […] Laboratory investigations in this patient revealed only hyperuricemia. […] Further studies should be undertaken to determine if and how KTS is associated with hyperuricemia and PAH. […] Another possible complication of KTS is bleeding from abnormal vessels. […] The fact that the patient was diagnosed at an advanced age clearly demonstrates the need of early diagnostic tools in suspected patients to prevent or decelerate possible complications. […] Awareness of the breadth of congenital vascular anomalies and the impact of their possible complications are critical for the rural and remote physician in delivering safe and effective health care.

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