Materiały źródłowe

• #1 Presentation and Management of Klippel-Trenaunay Syndrome: A Review of Available Data

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7282379/

  Klippel-Trenaunay Syndrome (KTS) is a rare and sporadic congenital disorder, characterized by the classical triad of port-wine stains, varicosities along with bone and soft tissue hypertrophy. […] In most cases, a thorough history and clinical examination is enough for the diagnosis of Klippel Trenaunay Syndrome. However, when certain complications are present, noninvasive imaging techniques are used for the diagnosis and evaluation of the disease in patients. […] Being an extremely rare disease, there are no formally described definite diagnostic criteria nor any pathognomonic laboratory test investigation for this syndrome. The diagnosis is generally dependent on two of the following features of the classical triad of KTS: Cutaneous hemangiomas (port-wine-stains), Varicosities, Bone and soft tissue hypertrophy.

• #1 Klippel-Trenaunay Syndrome (KTS): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17152-klippel-trenaunay-syndrome-kts

  Healthcare providers often identify KTS early and may diagnose it before a newborn leaves the hospital. […] Early diagnosis and treatment (often soon after birth) can reduce the risk of health complications related to KTS. […] Healthcare providers initially diagnose KTS based on the physical signs. You may get a KTS diagnosis if you have issues in two of these three areas: capillaries, veins or limbs. Because many KTS symptoms are present at birth, your baby may receive a diagnosis of KTS before leaving the hospital. […] Tests for Klippel-Trenaunay syndrome may include: CT scans or MRIs to look at soft tissues and bones, Magnetic resonance (MR) angiogram, a specialized MRI to look at blood vessels and veins, Doppler ultrasound to look at how blood flows through veins and arteries.

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

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

  Klippel-Trenaunay syndrome may be suspected in children who have a port wine stain covering an arm or leg, but the diagnosis may not be confirmed until the child is walking and the varicose veins and limb hypertrophy are more obvious. […] Generally, a child has to have all three symptoms to be diagnosed with Klippel-Trenaunay syndrome.

• #1 Klippel-Trenaunay syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/klippel-trenaunay/diagnosis-treatment/drc-20374155

  Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is helpful for evaluation and treatment recommendations. During the evaluation your health care provider: […] Several diagnostic tests can help your doctor evaluate and identify the type and severity of the condition and help determine treatment. Some tests include: […] Duplex ultrasound scanning. This test uses high-frequency sound waves to create detailed images of blood vessels and blood flow. […] MRI and magnetic resonance (MR) angiography. These procedures help differentiate between bone, fat, muscle and blood vessels and can identify malformations. […] Scanogram. Also called scanner photography, this X-ray technique creates images of bones and helps measure their lengths.

• #1 Doppler Ultrasound – Klippel-Trenaunay Syndrome | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/klippel-trenaunay-syndrome/diagnosis/doppler-ultrasound.html

  Doppler ultrasound can detect abnormal blood flow within a vessel, which can indicate a blockage caused by a blood clot, a plaque, or inflammation. […] A Doppler ultrasound is a non-invasive test that can depict blood flow by bouncing high-frequency sound waves off of red blood cells to create images of blood vessels, tissues, and organs. […] The amount of blood pumped with each beat is an indication of the size of a vessel’s opening.

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

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

  Klippel-Trnaunay syndrome is a very rare congenital disorder that is characterized by a triad of venous malformations, cutaneous capillary malformations, and limb overgrowth. It is considered an angio-osteo-hypertrophic syndrome. […] The diagnosis of Klippel-Trnaunay syndrome is usually made when any two of the three features are present. Patients usually present in infancy. Features are often unilateral and typically affect one limb; capillary malformations may be absent in the atypical form. It may be diagnosed in utero. […] Prenatal ultrasound may diagnose Klippel-Trnaunay syndrome as early as the 15th week of gestation, based on limb hypertrophy and associated subcutaneous cystic lesions. 3D ultrasound may reveal leg width difference. Possible additional features include fetal hydrops, cardiac failure, and polyhydramnios. […] Typical angiographic findings, which may also be seen on contrast-enhanced CT-scan or MRI, include lower leg superficial varicoid drainage without a deep venous system. The marginal vein of Servelle is a pathognomonic finding (a subcutaneous vein found in the lateral calf and thigh).

• #1 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

  These features were compatible with a diagnosis of KlippelTrnaunay syndrome. […] We performed a color Doppler ultrasound examination of the left lower limb and abdomen, which showed varicose veins and no signs of arteriovenous fistula, confirming the clinical diagnosis of KTS. […] 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. […] Differential diagnosis for KTS should consider PraderWilli syndrome (PWS), Proteus syndrome, Maffucci syndrome, neurofibromatosis type I, SturgeWeber syndrome, and BeckwithWiedemann syndrome.

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

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

  Klippel-Trenaunay syndrome (KTS) is a complex congenital disorder defined as the triad of capillary malformation, venous malformation, and limb overgrowth, with or without lymphatic malformation. […] The diagnosis and management of other capillary malformations and related overgrowth syndromes are discussed separately. […] 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. […] KTS as part of PROS – Because most of the more severe cases of KTS genomically analyzed have been found to be caused by mosaic activating variants in the PIK3CA gene, experts have proposed that KTS be labeled not as a distinct diagnostic entity but as part of the PIK3CA-related overgrowth spectrum (PROS). […] Imaging studies include ultrasonography, magnetic resonance imaging, conventional venography, and plain radiograph. […] Laboratory studies and biopsy, including genomic testing, are also part of the diagnostic process.

• #1 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

  Detailed preoperative mapping of the venous system by a supplementary CT or MR venography may facilitate the identification of the extent of deep-seated malformation and thus can be helpful to prevent worsening of symptoms following intervention on superficial varicosities. […] The evaluation of the severity of KTS is most commonly centered at the assessment of clinical severity of venous abnormality which included extent and distribution of structural and functional venous anomaly. Comprehensive assessment of the involved limb using Doppler sonography can provide a measure of severity of venous insufficiency in the superficial venous system. […] 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. […] 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.

• #1 Klippel-Trenaunay syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/klippel-trenaunay/diagnosis-treatment/drc-20374155

  CT scan or CT angiography. A CT scan creates 3D images of the body that help show blood clots in veins. […] Contrast venography. This procedure involves injecting a dye into veins and taking X-rays that can reveal atypical veins, blockages or blood clots. […] Coagulation studies. These tests can help evaluate how the blood clots. […] Genetic studies. These tests can identify the characteristic pattern of gene differences (gene signature) that may explain why the condition occurred.

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

  https://emedicine.medscape.com/article/945760-overview

  Klippel-Trenaunay-Weber syndrome (KTWS) is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity. […] In many instances, a thorough history and physical examination are all that is required to diagnose Klippel-Trenaunay-Weber syndrome (KTWS). However, when complications are present, imaging studies can be useful. Color Doppler sonography is an accurate, reliable, and noninvasive way to evaluate patients with possible KTWS. […] Multidetector row computed tomography arteriography may be of value in the preoperative assessment of patients with KTWS. […] Evaluation of the deep venous system can be completed with duplex scanning contrast venography, ultrasonography, contrast venography and arteriography, and nuclear MRI studies.

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

  https://emedicine.medscape.com/article/945760-overview

  MRI is also helpful in imaging the soft tissue hypertrophy. In addition, magnetic resonance angiography can be very helpful in identifying and defining vascular malformations. […] In the case of major limb length discrepancies, serial radiographic studies, including but not limited to scanograms, orthoroentgenograms, and CT scans, for measurement of limb length are necessary. […] Prenatal diagnosis by ultrasonography has been reported. […] In lesions extending onto the perineum or abdomen, performing imaging studies can be helpful to rule out internal involvement. […] Lymphoscintigraphy may be used to evaluate potential KTWS candidates for thoracic duct decompression if needed.

• #1 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. […] Clinical diagnosis is based on a clinical triad combining: planar angioma(s), truncal venous/lymphatic-venous slow-flow malformation, and soft tissues and bone hypertrophy in the area affected by vascular dysplasia. […] Diagnosis must be confirmed by identification of a PIK3CA mosaic variation on affected tissue (most often skin) without culture, using high-depth high-throughput sequencing. […] The diagnosis may be suspected during pregnancy in the presence of segmental hypertrophy. […] Prenatal diagnosis is therefore not particularly recommended.

• #1 Klippel-Trenaunay Syndrome – K-T Support Group

  https://k-t.org/about-kt/what-is-kts

  Klippel-Trenaunay (K-T) Syndrome is characterized by a localized or diffuse capillary malformation that overlies a venous malformation and/or lymphatic malformation with associated soft tissue and bone overgrowth (hypertrophy). The capillary malformation is typically substantial, varicose veins are often quite numerous, and bone and soft tissue hypertrophy are variable. The affected limb is either larger or smaller than the unaffected limb. Hypertrophy occurs most commonly in the lower limbs but may affect the arms, the face, the head, or internal organs. Additionally, a wide range of other skeletal and skin abnormalities sometimes coexists. […] K-T has been a diagnosis used for what is now recognized as a broad range of conditions with similar symptoms – capillary, venous, and lymphatic malformations with bony and soft tissue growth irregularities, plus many other symptoms. K-T exists as it was originally described – capillary, venous, and lymphatic malformations with bony and soft tissue growth irregularities. Other significant symptoms that are not related possibly indicate that the diagnosis should be one of the similar conditions. The importance of having an accurate diagnosis is that even subtle differences in a condition might call for a different management protocol. While most K-T patients are not exactly alike, symptoms are not as broad as once thought. […] A PROS diagnosis for K-T should not be assumed unless genetic testing has confirmed the presence of PIK3CA. Many conditions can manifest symptoms that look like K-T. […] There is no specific test for K-T.

• #1 Klippel-Trenaunay Syndrome | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/klippel-trenaunay-syndrome

  Klippel-Trenaunay syndrome (KTS) is a rare congenital (present at birth) vascular anomaly that results in your child having a large number of abnormal blood vessels. Doctors can sometimes see evidence of KTS in a prenatal ultrasound, and the capillary malformation (in the form of a „port-wine stain” birthmark) is almost always apparent at the baby’s birth. KTS is equally common in boys and girls. […] If your child is older and you believe they have KTS, doctors in our Vascular Anomalies Center will start with a complete medical history and a thorough physical exam. In many cases, that initial exam gives us enough information to diagnose KTS. […] Doctors can sometimes see evidence of KTS in a prenatal ultrasound, and the capillary malformation (port-wine stain) is almost always apparent when your child is born. […] If there’s any doubt, your doctor may recommend one or more of the following imaging tests, which can help determine the correct diagnosis and the appropriate next steps in treatment: Magnetic resonance imaging (MRI), Ultrasound.

• #1 Klippel-Trénaunay-Weber Syndrome | Radiology Key

  https://radiologykey.com/klippel-trenaunay-weber-syndrome/

  Klippel-Trnaunay-Weber syndrome (KTWS) is characterized by a triad of cutaneous hemangiomas, hemihypertrophy, and vascular abnormalities. […] The diagnosis of KTWS is based on clinical findings. The major clinical findings are cutaneous hemangiomas, vascular abnormalities, and hemihypertrophy. To assign a diagnosis of KTWS, two of the three major findings must be present. […] Prenatal ultrasound (US) diagnosis of KTWS has been reported at 15 weeks gestation. Diagnosis is based on limb hypertrophy with the association of subcutaneous cystic lesions. […] Fetal magnetic resonance imaging (MRI) has been reported to be a useful adjunct testing modality in suspected cases. MRI aids in the characterization of soft tissue lesions and vascular abnormalities seen in KTWS.

• #1 Klippel-Trenaunay Weber syndrome – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/pediatrics/klippel-trenaunay-weber-syndrome/

  Klippel-Trenaunay-Weber (KTW) syndrome is the traditional eponym applied when a person has findings of Klippel-Trenaunay syndrome (KTS) together with an arteriovenous malformation (AVM) or arteriovenous fistula as is found in Parkes-Weber syndrome (PWS). […] However, there are substantial inconsistencies and disagreement over the findings and diagnostic criteria for KTS and KTW. […] Given the existing confusion over the diagnostic criteria for KTS (and hence KTW), it is perhaps not entirely helpful here to attempt to present a set of findings that will lead to a definitive diagnosis of KTS/KTW. […] The diagnosis of KTS or KTW is a clinical diagnosis (albeit with clinical criteria that vary among authors) and there are no genetic or molecular tests that are useful as an aid in diagnosis. […] Magnetic resonance imaging (MRI) of an affected body part, together with vascular imaging with MRI or ultrasonography may be helpful in elaborating a pattern of disease findings. […] As discussed, the clinical criteria used in diagnosing KTS or KTW is highly variable.

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

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

  Klippel-Trnaunay syndrome (KTS) is a rare disorder that is present at birth (congenital). […] To diagnose KTS, first doctors will: Ask about your child’s health history, Examine your child. […] A team of specialists will work together to diagnose your child, using tests such as: Blood tests, Imaging studies, Genetic testing. […] We have created a way to test a patient’s tissue for genetic changes (variants or mutations) known to cause vascular anomalies. Genetic test results help inform your child’s diagnosis and may help guide their treatment. […] Imaging studies help us: See if there are problems with vessels deep in your child’s body, Assess your child’s soft tissue and any overgrowth, Look for an abnormal connection between an artery and a vein (arteriovenous fistula), Find what is causing symptoms, Confirm the diagnosis of KTS, Plan procedures, Track changes over time in a vascular malformation or arm or leg.

• #1 SciELO Brazil – Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results

  https://www.scielo.br/j/ibju/a/WCwdSwxW86MMYZWP8bpBYPs/?lang=en

  OBJECTIVE: Klippel-Trenaunay-Weber syndrome (KTWS) is a congenital condition characterized by vascular malformations of the capillary, venous and lymphatic systems associated to soft tissue and bone hypertrophy in the affected areas. This syndrome may involve bladder, kidney, urethra, ureter and genitals. We report the treatment of 7 KTWS patients with urogenital involvement. […] Urogenital involvement in patients with KTWS is not rare and must be suspected in the presence of hematuria or significant cutaneous deformity of the external genitalia. Surgical treatment may be warranted in selected cases. […] Urogenital involvement in patients with KTWS is not uncommon and may present with different manifestations. Bladder involvement is estimated to occur in 2.3% to 6% of the patients, penoescrotal vascular malformations in 8.5% and vaginal or vulvar in 9.5% of the patients.

• #1 SciELO Brazil – Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results

  https://www.scielo.br/j/ibju/a/WCwdSwxW86MMYZWP8bpBYPs/?lang=en

  In cases of extensive cutaneous lesions of the genitals, lower extremities and buttocks, retroperitoneal and urinary tract involvement should be suspected and radiological evaluation with CT scan or MRI is recommended. Hematuria and urethral bleeding are also indications for urological evaluation. Bladder and urethral lesions may be confirmed with cystoscopy. […] Initial treatment of gross hematuria in these patients is conservative, with bladder irrigation. Anti-fibrinolytic agents as epsilon aminocaproic or tranexamic acid can be used. […] Recurrent or life-threatening hematuria demands specific treatment. Partial cystectomy used to be the standard treatment but carries significant morbidity. […] The first report of Nd:YAG laser treatment of bladder hemangiomas associated with KTWS was made by Smith and Dixon in 1984. Since then, endoscopic treatment with Nd:YAG laser has been advocated as the gold standard procedure for bladder hemangiomas.

• #1 Klippel-Trenaunay syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/klippel-trenaunay/symptoms-causes/syc-20374152

  KTS is usually identified at birth. It’s important to get a prompt, accurate diagnosis and appropriate care to treat symptoms and prevent complications. […] Klippel-Trenaunay syndrome care at Mayo Clinic […] Diagnosis treatment.

• #1

  https://expertwitness.substack.com/p/answer-klippel-trenaunay-syndrome

  The correct diagnosis for this weeks case was Klippel-Trenaunay syndrome (KTS). […] The case described 2 parts of the classic triad: Port-wine stain. This was described in the PAs note as a hemangioma, which is an inaccurate description but common mistake. It is often described as a birthmark by lay people. […] Unilateral limb hypertrophy. This is more commonly seen in the legs than the arms. […] Venous or lymphatic abnormalities. Varicose veins are common. […] The fact that this patient had KTS played a critical role in the malpractice case. […] The plaintiff argued that if the doctors and PA had appropriately made the diagnosis of KTS, they would have known that she was at risk for PE and would have been more aggressive with the workup. […] Readers of this newsletter now have a better understanding of KTS and its acute complications.

• #1

  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.

• #1 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/

  For physicians in rural areas managing patients with KTS, identification is important in order to manage possible complications. […] 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. An important starting point could be genetic testing in pediatric patients with associated clinical findings. […] Precise diagnosis of complex vascular anomalies often requires a multidisciplinary approach to ensure appropriate management.

• #1

  https://journals.lww.com/md-journal/fulltext/2025/02210/klippel_trenaunay_syndrome_with_multiorgan.38.aspx

  This report describes a 32-year-old male patient diagnosed with KlippelTrenaunay syndrome for the first time, presenting with primary symptoms of superficial venous varicosities, swelling in the right lower limb, and vascular abnormalities in the liver and gastrointestinal tract. […] The intermittent gastrointestinal bleeding in the patient is attributed to bleeding from vascular malformations in the gastrointestinal tract. […] According to previous literature reports, the incidence of gastrointestinal bleeding in KTS patients ranges from 2% to 23%, possibly associated with mucosal damage and rupture of small blood vessels caused by vascular malformations. […] Endoscopic therapy can provide significant benefits for patients with KTS complicated by long-term gastrointestinal bleeding. […] However, KTS cannot currently be cured, and early diagnosis, standardized evaluation, and regular follow-up are key to the collaborative management and treatment of KTS patients.

• #1 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

  The presence of arteriovenous fistula in PWS is the only difference with KTS, and both syndromes are generally confirmed with Doppler ultrasound and magnetic resonance angiography. […] 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.

• #2 Klippel–Trénaunay syndrome

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

  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. […] While a diagnosis of Klippel-Trnaunay syndrome can be suspected in a newborn when a port-wine stain is present, the confirmation comes later when other symptoms become more apparent. […] Diagnostic tests that may be required include: Magnetic resonance imaging, Magnetic resonance angiography, Computed tomography (CT) or CT venography, Colour duplex ultrasonography, Ultrasound during pregnancy.

• #2 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. […] Clinical diagnosis is based on a clinical triad combining: planar angioma(s), truncal venous/lymphatic-venous slow-flow malformation, and soft tissues and bone hypertrophy in the area affected by vascular dysplasia. […] Diagnosis must be confirmed by identification of a PIK3CA mosaic variation on affected tissue (most often skin) without culture, using high-depth high-throughput sequencing. […] The diagnosis may be suspected during pregnancy in the presence of segmental hypertrophy. […] Prenatal diagnosis is therefore not particularly recommended.

• #2 Klippel-Trenaunay syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/klippel-trenaunay/symptoms-causes/syc-20374152

  KTS is usually identified at birth. It’s important to get a prompt, accurate diagnosis and appropriate care to treat symptoms and prevent complications. […] Klippel-Trenaunay syndrome care at Mayo Clinic […] Diagnosis treatment.

• #2 Klippel-Trenaunay syndrome // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/klippel-trenaunay-syndrome

  Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is helpful for evaluation and treatment recommendations. During the evaluation your health care provider: […] Asks questions about your family and medical history […] Does an exam to look for swelling, varicose veins and port-wine stains […] Visually evaluates growth of bones and soft tissues […] Several diagnostic tests can help your doctor evaluate and identify the type and severity of the condition and help determine treatment. Some tests include: […] Duplex ultrasound scanning. This test uses high-frequency sound waves to create detailed images of blood vessels and blood flow. […] MRI and magnetic resonance (MR) angiography. These procedures help differentiate between bone, fat, muscle and blood vessels and can identify malformations.

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

  https://emedicine.medscape.com/article/945760-overview

  Klippel-Trenaunay-Weber syndrome (KTWS) is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity. […] In many instances, a thorough history and physical examination are all that is required to diagnose Klippel-Trenaunay-Weber syndrome (KTWS). However, when complications are present, imaging studies can be useful. Color Doppler sonography is an accurate, reliable, and noninvasive way to evaluate patients with possible KTWS. […] Multidetector row computed tomography arteriography may be of value in the preoperative assessment of patients with KTWS. […] Evaluation of the deep venous system can be completed with duplex scanning contrast venography, ultrasonography, contrast venography and arteriography, and nuclear MRI studies.

• #2 Klippel-Trenaunay Syndrome (KTS): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17152-klippel-trenaunay-syndrome-kts

  Healthcare providers often identify KTS early and may diagnose it before a newborn leaves the hospital. […] Early diagnosis and treatment (often soon after birth) can reduce the risk of health complications related to KTS. […] Healthcare providers initially diagnose KTS based on the physical signs. You may get a KTS diagnosis if you have issues in two of these three areas: capillaries, veins or limbs. Because many KTS symptoms are present at birth, your baby may receive a diagnosis of KTS before leaving the hospital. […] Tests for Klippel-Trenaunay syndrome may include: CT scans or MRIs to look at soft tissues and bones, Magnetic resonance (MR) angiogram, a specialized MRI to look at blood vessels and veins, Doppler ultrasound to look at how blood flows through veins and arteries.

• #2 Klippel-Trenaunay syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/klippel-trenaunay/diagnosis-treatment/drc-20374155

  Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is helpful for evaluation and treatment recommendations. During the evaluation your health care provider: […] Several diagnostic tests can help your doctor evaluate and identify the type and severity of the condition and help determine treatment. Some tests include: […] Duplex ultrasound scanning. This test uses high-frequency sound waves to create detailed images of blood vessels and blood flow. […] MRI and magnetic resonance (MR) angiography. These procedures help differentiate between bone, fat, muscle and blood vessels and can identify malformations. […] Scanogram. Also called scanner photography, this X-ray technique creates images of bones and helps measure their lengths.

• #2 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

  We present a series of three cases of Klippel-Trenaunay syndrome (KTS) presenting with unilateral lower limb involvement demonstrating a wide range of radiological findings. […] The three cases in our series demonstrate common and unusual findings of KTS and highlight the role of CT and MR venography in addition to color Doppler sonography to identify the complete extent of the involvement. […] 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. Color Doppler sonography is the most commonly employed imaging modality utilized to diagnose KTS. 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.

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

  https://emedicine.medscape.com/article/945760-overview

  MRI is also helpful in imaging the soft tissue hypertrophy. In addition, magnetic resonance angiography can be very helpful in identifying and defining vascular malformations. […] In the case of major limb length discrepancies, serial radiographic studies, including but not limited to scanograms, orthoroentgenograms, and CT scans, for measurement of limb length are necessary. […] Prenatal diagnosis by ultrasonography has been reported. […] In lesions extending onto the perineum or abdomen, performing imaging studies can be helpful to rule out internal involvement. […] Lymphoscintigraphy may be used to evaluate potential KTWS candidates for thoracic duct decompression if needed.

• #2 Diagnosing Klippel-Trenaunay Syndrome | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/klippel-trenaunay-syndrome/diagnosis.html

  The one or more of the following test procedures may be used to diagnose Klippel-Trenaunay syndrome. […] Doppler ultrasound […] CT scan […] Magnetic resonance imaging (MRI)

• #2 Klippel-Trenaunay syndrome

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20374143

  Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is helpful for evaluation and treatment recommendations. During the evaluation your health care provider: […] Several diagnostic tests can help your doctor evaluate and identify the type and severity of the condition and help determine treatment. Some tests include: […] Genetic studies. These tests can identify the characteristic pattern of gene differences (gene signature) that may explain why the condition occurred.

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

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

  Klippel-Trnaunay syndrome is a very rare congenital disorder that is characterized by a triad of venous malformations, cutaneous capillary malformations, and limb overgrowth. It is considered an angio-osteo-hypertrophic syndrome. […] The diagnosis of Klippel-Trnaunay syndrome is usually made when any two of the three features are present. Patients usually present in infancy. Features are often unilateral and typically affect one limb; capillary malformations may be absent in the atypical form. It may be diagnosed in utero. […] Prenatal ultrasound may diagnose Klippel-Trnaunay syndrome as early as the 15th week of gestation, based on limb hypertrophy and associated subcutaneous cystic lesions. 3D ultrasound may reveal leg width difference. Possible additional features include fetal hydrops, cardiac failure, and polyhydramnios. […] Typical angiographic findings, which may also be seen on contrast-enhanced CT-scan or MRI, include lower leg superficial varicoid drainage without a deep venous system. The marginal vein of Servelle is a pathognomonic finding (a subcutaneous vein found in the lateral calf and thigh).

• #2 Klippel-Trenaunay syndrome // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/klippel-trenaunay-syndrome

  Scanogram. Also called scanner photography, this X-ray technique creates images of bones and helps measure their lengths. […] CT scan or CT angiography. A CT scan creates 3D images of the body that help show blood clots in veins. […] Contrast venography. This procedure involves injecting a dye into veins and taking X-rays that can reveal atypical veins, blockages or blood clots. […] Coagulation studies. These tests can help evaluate how the blood clots. […] Genetic studies. These tests can identify the characteristic pattern of gene differences (gene signature) that may explain why the condition occurred.

• #2 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 a complex congenital disorder defined as the triad of capillary malformation, venous malformation, and limb overgrowth, with or without lymphatic malformation. […] The diagnosis and management of other capillary malformations and related overgrowth syndromes are discussed separately. […] 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. […] Because most of the more severe cases of KTS genomically analyzed have been found to be caused by mosaic activating variants in the PIK3CA gene, experts have proposed that KTS be labeled not as a distinct diagnostic entity but as part of the PIK3CA-related overgrowth spectrum (PROS).

• #2 Klippel-Trénaunay Syndrome (KTS) – Rare Awareness Rare Education

  https://rareportal.org.au/rare-disease/klippel-trenaunay-syndrome-kts/

  Klippel-Trenaunay syndrome (KTS) may be diagnosed based on a physical examination of the signs and symptoms. Imaging scans, such as computed axial tomography (CAT) and magnetic resonance imaging (MRI), and colour doppler studies (ultrasound), may be performed to identify and assess the extent of malformations and to guide treatment. […] Genetic testing for PIK3CA somatic mosaicism (in which not all the cells in the body have a PIK3CA genetic change) may be performed; however, not all individuals may have a detectable PIK3CA mutation. […] Differential diagnosis (to rule out other condition) includes Parkes-Weber syndrome, CLOVES syndrome, other PIK3CA-related overgrowth spectrum (PROS) syndromes, PTEN-related overgrowth disorders, Proteus syndrome and DCMO syndrome. […] Please speak to your medical team to learn more about the available diagnostic pathways for KTS.

• #2 Prenatal Ultrasound Diagnosis of Klippel–Trenaunay Syndrome

  https://www.mdpi.com/2075-4418/13/22/3400

  Klippel–Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary–lymphatic–venous malformation with unknown aetiology. The aim of our paper is to highlight interesting images, regarding a rare case of foetal Klippel–Trenaunay syndrome diagnosed prenatally in our department and confirmed postnatally with a favourable evolution during the gestation and neonatal periods. This case was diagnosed at 26 weeks gestation and characterised through ultrasound by the presence of superficial multiple cystic structures of different sizes spreading over the left leg with hemihypertrophy and reduced mobility. The ultrasound findings were confirmed postnatally, the left leg presented multiple cystic lesions and port wine stains, and there was hypertrophy and fixed position, with favourable evolution at 6 months of life, when the size of the lesions began to decrease and the mobility of the leg improved. Klippel–Trenaunay syndrome is a clinical diagnosis characterised by the presence of localized cutaneous capillary malformations, venous abnormalities and bony or soft-tissue hypertrophy of an extremity. Prenatal diagnosis can be achieved usually as early as 20 weeks and the most common ultrasound findings include cystic lesions affecting mostly the limbs, either uni- or bilateral, but in almost 50% of cases the cystic lesions can affect the internal organs (especially the lungs, bowel and liver) together with hemihypertrophy of the affected limb, anomalies of the fingers and visceromegaly. Prenatal diagnosis with or without Doppler signal reveals multiple cystic lesions, which can increase in size and extent in different body areas. Klippel–Trenaunay syndrome is a complex condition diagnosed prenatally based on ultrasound cystic changes or postnatally based on characteristic signs and symptoms.

• #2 Klippel-Trenaunay syndrome – a classic presentation – ScholarMD

  https://www.scholarmd.in/intellect/klippel-trenaunay-syndrome-a-classic-presentation/

  A 25-years old primigravida presented for obstetric ultrasound at 19 weeks of gestation. There was no significant personal or family history. […] Based on the findings, a diagnosis of Klippel-Trenaunay syndrome (KTS) was made. […] KTS is diagnosed when at least 2 of these 3 conditions are present […] The classic PW syndrome is characterized by presence of vascular malformation predominated by arteriovenous shunting and localized bony or soft tissue hypertrophy. […] First prenatal ultrasound diagnosis of KTS was reported in 1988. The earliest prenatal diagnosis has been reported at 15 weeks, but most cases are diagnosed in second half of pregnancy. […] The quality of life in patients with KTS is significantly affected and hence making a prenatal diagnosis is important. Since the exact pathophysiology and genetic basis is unclear, prenatal diagnosis is based on ultrasound findings. Limb hypertrophy with associated subcutaneous cystic lesions should raise a strong possibility of KTS.

• #2 NYC Klippel-Trenaunay Syndrome Diagnosis | Vascular Malformation Treatment

  https://www.vbiny.org/blog/klippel-trenaunay-syndrome/

  Klippel-Trenaunay Syndrome is a life-altering disorder that causes mild to extensive features of the upper or lower limbs, and sometimes the trunk. A child who is diagnosed with Klippel-Trenaunay Syndrome requires the specialized care of a doctor who is an authority in vascular malformations and their effective treatments. […] At The Vascular Birthmark Institute of New York, Dr. Milton Waner works alongside an exceptional interdisciplinary team of experts to provide the most comprehensive diagnosis and treatment of Klippel-Trenaunay Syndrome. […] This difficult condition requires accurate diagnosis early on in a child’s life in order for treatments to begin as soon as possible.

• #2 SciELO Brazil – Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results

  https://www.scielo.br/j/ibju/a/WCwdSwxW86MMYZWP8bpBYPs/?lang=en

  In cases of extensive cutaneous lesions of the genitals, lower extremities and buttocks, retroperitoneal and urinary tract involvement should be suspected and radiological evaluation with CT scan or MRI is recommended. Hematuria and urethral bleeding are also indications for urological evaluation. Bladder and urethral lesions may be confirmed with cystoscopy. […] Initial treatment of gross hematuria in these patients is conservative, with bladder irrigation. Anti-fibrinolytic agents as epsilon aminocaproic or tranexamic acid can be used. […] Recurrent or life-threatening hematuria demands specific treatment. Partial cystectomy used to be the standard treatment but carries significant morbidity. […] The first report of Nd:YAG laser treatment of bladder hemangiomas associated with KTWS was made by Smith and Dixon in 1984. Since then, endoscopic treatment with Nd:YAG laser has been advocated as the gold standard procedure for bladder hemangiomas.

• #2 Klippel-Trenaunay Syndrome – UChicago Medicine

  https://www.uchicagomedicine.org/comer/conditions-services/vascular-anomalies/klippel-trenaunay-syndrome

  Klippel-Trenaunay syndrome (KTS) is a rare vascular anomaly that involves the blood vessels, the lymphatic system and nearby tissues. […] Physical changes that suggest Klippel-Trenaunay syndrome may sometimes be evident on an ultrasound taken during pregnancy. After birth, a variety of exams and tests may be used to diagnose the condition. They include: […] A physical exam with a complete medical history […] Blood tests […] Ultrasound and magnetic resonance imaging (MRI) to look at deep veins and examine the cause of soft tissue enlargement […] Angiograms or MRI scans to identify abnormal connections between veins and arteries and veins (arteriovenous fistulae) […] Computed tomography (CT) scans of the abdomen and pelvis to check for malformations of veins within the abdomen.

• #2 Klippel–Trenaunay Syndrome Treatment | New York, NY

  https://www.birthmarkcare.com/blog/diagnosis-klippel-trenaunay-syndrome-now-what/

  Receiving the news that your baby has been diagnosed with a rare congenital disorder can be alarming. […] Accurate diagnosis is important. When KTS has been confirmed, it is important to get the necessary care to address any symptoms and prevent complications. […] Your doctor will advise you of which symptoms to be aware.

• #2 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

  Detailed preoperative mapping of the venous system by a supplementary CT or MR venography may facilitate the identification of the extent of deep-seated malformation and thus can be helpful to prevent worsening of symptoms following intervention on superficial varicosities. […] The evaluation of the severity of KTS is most commonly centered at the assessment of clinical severity of venous abnormality which included extent and distribution of structural and functional venous anomaly. Comprehensive assessment of the involved limb using Doppler sonography can provide a measure of severity of venous insufficiency in the superficial venous system. […] 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. […] 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.

• #2

  https://journals.lww.com/md-journal/fulltext/2025/02210/klippel_trenaunay_syndrome_with_multiorgan.38.aspx

  This report describes a 32-year-old male patient diagnosed with KlippelTrenaunay syndrome for the first time, presenting with primary symptoms of superficial venous varicosities, swelling in the right lower limb, and vascular abnormalities in the liver and gastrointestinal tract. […] The intermittent gastrointestinal bleeding in the patient is attributed to bleeding from vascular malformations in the gastrointestinal tract. […] According to previous literature reports, the incidence of gastrointestinal bleeding in KTS patients ranges from 2% to 23%, possibly associated with mucosal damage and rupture of small blood vessels caused by vascular malformations. […] Endoscopic therapy can provide significant benefits for patients with KTS complicated by long-term gastrointestinal bleeding. […] However, KTS cannot currently be cured, and early diagnosis, standardized evaluation, and regular follow-up are key to the collaborative management and treatment of KTS patients.

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

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

  Klippel-Trenaunay syndrome (KTS) is a complex congenital disorder defined as the triad of capillary malformation, venous malformation, and limb overgrowth, with or without lymphatic malformation. […] The diagnosis and management of other capillary malformations and related overgrowth syndromes are discussed separately. […] 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. […] KTS as part of PROS – Because most of the more severe cases of KTS genomically analyzed have been found to be caused by mosaic activating variants in the PIK3CA gene, experts have proposed that KTS be labeled not as a distinct diagnostic entity but as part of the PIK3CA-related overgrowth spectrum (PROS). […] Imaging studies include ultrasonography, magnetic resonance imaging, conventional venography, and plain radiograph. […] Laboratory studies and biopsy, including genomic testing, are also part of the diagnostic process.

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

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

  Klippel-Trnaunay syndrome is a very rare congenital disorder that is characterized by a triad of venous malformations, cutaneous capillary malformations, and limb overgrowth. It is considered an angio-osteo-hypertrophic syndrome. […] The diagnosis of Klippel-Trnaunay syndrome is usually made when any two of the three features are present. Patients usually present in infancy. Features are often unilateral and typically affect one limb; capillary malformations may be absent in the atypical form. It may be diagnosed in utero. […] Prenatal ultrasound may diagnose Klippel-Trnaunay syndrome as early as the 15th week of gestation, based on limb hypertrophy and associated subcutaneous cystic lesions. 3D ultrasound may reveal leg width difference. Possible additional features include fetal hydrops, cardiac failure, and polyhydramnios. […] Typical angiographic findings, which may also be seen on contrast-enhanced CT-scan or MRI, include lower leg superficial varicoid drainage without a deep venous system. The marginal vein of Servelle is a pathognomonic finding (a subcutaneous vein found in the lateral calf and thigh).

• #3 Klippel-Trenaunay syndrome // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/klippel-trenaunay-syndrome

  Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is helpful for evaluation and treatment recommendations. During the evaluation your health care provider: […] Asks questions about your family and medical history […] Does an exam to look for swelling, varicose veins and port-wine stains […] Visually evaluates growth of bones and soft tissues […] Several diagnostic tests can help your doctor evaluate and identify the type and severity of the condition and help determine treatment. Some tests include: […] Duplex ultrasound scanning. This test uses high-frequency sound waves to create detailed images of blood vessels and blood flow. […] MRI and magnetic resonance (MR) angiography. These procedures help differentiate between bone, fat, muscle and blood vessels and can identify malformations.

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

  https://emedicine.medscape.com/article/945760-overview

  Klippel-Trenaunay-Weber syndrome (KTWS) is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity. […] In many instances, a thorough history and physical examination are all that is required to diagnose Klippel-Trenaunay-Weber syndrome (KTWS). However, when complications are present, imaging studies can be useful. Color Doppler sonography is an accurate, reliable, and noninvasive way to evaluate patients with possible KTWS. […] Multidetector row computed tomography arteriography may be of value in the preoperative assessment of patients with KTWS. […] Evaluation of the deep venous system can be completed with duplex scanning contrast venography, ultrasonography, contrast venography and arteriography, and nuclear MRI studies.

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

  https://emedicine.medscape.com/article/945760-overview

  MRI is also helpful in imaging the soft tissue hypertrophy. In addition, magnetic resonance angiography can be very helpful in identifying and defining vascular malformations. […] In the case of major limb length discrepancies, serial radiographic studies, including but not limited to scanograms, orthoroentgenograms, and CT scans, for measurement of limb length are necessary. […] Prenatal diagnosis by ultrasonography has been reported. […] In lesions extending onto the perineum or abdomen, performing imaging studies can be helpful to rule out internal involvement. […] Lymphoscintigraphy may be used to evaluate potential KTWS candidates for thoracic duct decompression if needed.

• #3 Klippel-Trenaunay syndrome // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/klippel-trenaunay-syndrome

  Scanogram. Also called scanner photography, this X-ray technique creates images of bones and helps measure their lengths. […] CT scan or CT angiography. A CT scan creates 3D images of the body that help show blood clots in veins. […] Contrast venography. This procedure involves injecting a dye into veins and taking X-rays that can reveal atypical veins, blockages or blood clots. […] Coagulation studies. These tests can help evaluate how the blood clots. […] Genetic studies. These tests can identify the characteristic pattern of gene differences (gene signature) that may explain why the condition occurred.

• #3 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. […] Clinical diagnosis is based on a clinical triad combining: planar angioma(s), truncal venous/lymphatic-venous slow-flow malformation, and soft tissues and bone hypertrophy in the area affected by vascular dysplasia. […] Diagnosis must be confirmed by identification of a PIK3CA mosaic variation on affected tissue (most often skin) without culture, using high-depth high-throughput sequencing. […] The diagnosis may be suspected during pregnancy in the presence of segmental hypertrophy. […] Prenatal diagnosis is therefore not particularly recommended.

• #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

  These features were compatible with a diagnosis of KlippelTrnaunay syndrome. […] We performed a color Doppler ultrasound examination of the left lower limb and abdomen, which showed varicose veins and no signs of arteriovenous fistula, confirming the clinical diagnosis of KTS. […] 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. […] Differential diagnosis for KTS should consider PraderWilli syndrome (PWS), Proteus syndrome, Maffucci syndrome, neurofibromatosis type I, SturgeWeber syndrome, and BeckwithWiedemann syndrome.

• #3

  https://journals.lww.com/md-journal/fulltext/2025/02210/klippel_trenaunay_syndrome_with_multiorgan.38.aspx

  To explore the early diagnosis and treatment of KlippelTrenaunay syndrome (KTS), and provide useful and systematic clinical references for the diagnosis and treatment of such congenital vascular malformations combined with long-term gastrointestinal bleeding. […] After comprehensive clinical examination, imaging evaluation (including abdominal computed tomography and ultrasound), and gastroscopy, the final diagnosis was KTS, and it was found that gastrointestinal bleeding was caused by intestinal vascular malformation. […] There is still no universally accepted gold standard for the diagnosis of KTS. […] Diagnosis continues to rely on initial assessment based on the patients symptoms and signs, supplemented by exclusionary diagnosis through a combination of imaging evaluations, angiography, or genetic testing.

• #4 Klippel-Trenaunay Syndrome Case | Applied Radiology

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

  An infant presented with a large port-wine stain of the right lower extremity, pelvis, and trunk that was present at birth. […] The diagnosis of KTS is usually clinical. The initial diagnostic imaging modality of choice is often Doppler US, which allows for visualization of the varicosities as well as appreciation of any concurrent thrombosis or venous insufficiency. […] A diagnosis of KTS requires 2 of these 3 features. […] 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. US will demonstrate a persistently dilated embryonic vein with thrombosis, and MRI can determine the extent of the lesion. […] 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.

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

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

  Klippel-Trnaunay syndrome (KTS) is a rare disorder that is present at birth (congenital). […] To diagnose KTS, first doctors will: Ask about your child’s health history, Examine your child. […] A team of specialists will work together to diagnose your child, using tests such as: Blood tests, Imaging studies, Genetic testing. […] We have created a way to test a patient’s tissue for genetic changes (variants or mutations) known to cause vascular anomalies. Genetic test results help inform your child’s diagnosis and may help guide their treatment. […] Imaging studies help us: See if there are problems with vessels deep in your child’s body, Assess your child’s soft tissue and any overgrowth, Look for an abnormal connection between an artery and a vein (arteriovenous fistula), Find what is causing symptoms, Confirm the diagnosis of KTS, Plan procedures, Track changes over time in a vascular malformation or arm or leg.

• #4 Klippel-Trenaunay Syndrome | Applied Radiology

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

  Klippel-Trenaunay syndrome. […] The differential diagnosis includes Parkes-Weber syndrome, neurofibromatosis, lymphedema, and CLOVES syndrome. […] Klippel-Trenaunay syndrome (KTS) presents with a classic triad of bone and soft-tissue hypertrophy, cutaneous capillary hemangioma (port wine stain), and congenital varicose veins. […] MRI is very useful to evaluate vascular malformations in soft tissues without ionizing radiation. […] Abnormalities can be identified prenatally. […] Prenatal ultrasound can demonstrate peripheral and visceral vascular anomalies, cardiomegaly, nonimmune hydrops, macrocephaly, hemi-hypertrophy, and umbilical cord hemangioma. […] Klippel-Trenaunay syndrome presents with a classic triad of hemi-hypertrophy, port wine stain, and congenital venous or venolymphatic malformations.

• #5 Klippel–Trénaunay syndrome

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

  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. […] While a diagnosis of Klippel-Trnaunay syndrome can be suspected in a newborn when a port-wine stain is present, the confirmation comes later when other symptoms become more apparent. […] Diagnostic tests that may be required include: Magnetic resonance imaging, Magnetic resonance angiography, Computed tomography (CT) or CT venography, Colour duplex ultrasonography, Ultrasound during pregnancy.

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