Materiały źródłowe

• #1 Ichthyosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1198130-overview

  Ichthyosis vulgaris is the most common form and is an autosomal dominant trait with an incidence of 1 case per 300 population. Epidermolytic hyperkeratosis is an autosomal dominant disorder with an incidence of 1 case per 300,000 population. Lamellar ichthyosis, a more severe form of dermatosis, is an autosomal recessive trait with an incidence of 1 case per 300,000 population. X-linked recessive ichthyosis has an incidence of 1 case per 6000 males. […] Studies show that a higher prevalence of X-linked ichthyosis as compared to ichthyosis vulgaris may be noted in Mexico, which is markedly different from the experience in the United States. In the United Kingdom, the incidence of ichthyosis vulgaris was reported to be 1 case per 250 population in a study population of 6501 healthy school children. Similarly, in another large epidemiologic study, the incidence of X-linked recessive ichthyosis was 1 case in 6190 males. In a Danish population study, the predicted incidence of X-linked recessive ichthyosis was 1 case per 2000 males. In a Danish study, Bygum et al concluded that epidermolytic ichthyosis had a prevalence of approximately 1 in 350,000, with a high percentage of de novo mutations (75%).

• #2 Ichthyosis vulgaris: An updated review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9892433/

  Ichthyosis vulgaris is an inherited form of ichthyosis caused by lossoffunction mutations in the filaggrin gene (FLG). The clinical presentation of ichthyosis vulgaris includes xerosis, keratosis pilaris, palmar hyperlinearity and a predisposition to atopic disorders. Ichthyosis vulgaris exhibits an autosomal semidominant pattern of inheritance with a milder phenotype in heterozygotes and an estimated prevalence of around 1:100 to 1:250 making it the most frequently occurring form of ichthyosis. […] With a prevalence of around 1:100 to 1:250, ichthyosis vulgaris is the most common type of ichthyosis. Accounting for more than 95% cases of ichthyoses, this disease manifests in infancy during the first year of life or early childhood, often at birth. There are no notable significances in sex or ethnicities and the disease is observed to improve with age.

• #3 Hereditary and Acquired Ichthyosis Vulgaris – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562318/

  IV is the most common ichthyosis, with an estimated prevalence of 1 in 100 to 250. The mode of inheritance is autosomal semi-dominant with a milder phenotype in heterozygous individuals. The overall penetrance is 80%-95%. The age of onset is in infancy, with the majority of patients having clearly characteristic manifestations by 5 years of age. Sex or ethnic predilection has not been observed. […] A high suspicion for ichthyosis vulgaris should be included in the evaluation of patients consulting for skin disorders. A family history of a similar dermatosis and a thorough inspection of the skin should be obtained. The diagnosis of ichthyosis vulgaris is based on several factors. These factors include the time of onset of clinical symptoms, the skin phenotype (color, scale pattern, the presence of erythroderma, a collodion membrane at birth), associated cutaneous manifestations, family history and hereditary transmission, histopathologic findings, absence or presence of extracutaneous manifestations, and genetic testing. Genetic testing may be beneficial for the confirmation of diagnosis and for genetic counseling.

• #4 Ichthyosis vulgaris

  https://dermnetnz.org/topics/ichthyosis-vulgaris

  Ichthyosis vulgaris affects 1 in every 250 people. Filaggrin mutations have been reported most commonly in Europeans; prevalence in other races is under investigation. […] Ichthyosis vulgaris is an autosomal semidominant condition. Semidominant means that a mutation in one gene of the chromosome pair results in a mild version of the disease, whereas a mutation in both genes on the chromosome pair results in a moderate to severe form.

• #5 Ichthyosis – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/cornification-disorders/ichthyosis

  Ichthyosis may be acquired or inherited as an isolated disorder or as part of a syndrome. […] Evaluate patients with gradual-onset ichthyosis for an underlying systemic disorder. […] Emollients that speed the shedding of skin (keratolytics) are effective in treating ichthyosis. […] Prevalence varies by ethnicity: 10:792 in a study of English schoolchildren versus 1:5025 in a Russian cohort study. […] Prevalence varies by ethnicity: 1:1500 males in a United States cohort study versus approximately 1:40006000 in European cohort studies and 1:9855 in Japanese studies. […] Acquired ichthyosis typically presents in adulthood. It can be associated with systemic disorders (eg, leprosy [Hansen disease], hypothyroidism, lymphoma, late-stage HIV, multiple myeloma, systemic lupus erythematosus, dermatomyositis, systemic sclerosis).

• #6 X-Linked Ichthyosis | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/23337

  X-linked ichthyosis is the second most prevalent form of ichthyosis, with ichthyosis vulgaris being the most common type. […] The incidence of X-linked ichthyosis ranges from 1 in 2500 to 1 in 6000 males. […] Although this condition equally affects all ethnic groups and races worldwide, the condition predominantly affects males rather than females, as suggested by its name.

• #7 Overview and classification of the inherited ichthyoses – UpToDate

  https://www.uptodate.com/contents/overview-and-classification-of-the-inherited-ichthyoses

  Ichthyosis vulgaris and X-linked ichthyosis are the most common types of ichthyosis, with an estimated incidence of 1 in 250 births and 1 in 6000 male births, respectively. […] Autosomal recessive congenital ichthyoses, which include lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis, are rare; their overall incidence has been estimated at approximately 1 in 200,000 births.

• #8 Orphanet: Lamellar ichthyosis

  https://www.orpha.net/en/disease/detail/313

  It is the most common variant of autosomal recessive congenital ichthyosis (ARCI). Prevalence in Europe is estimated at approximately 1/100,000-1/300,000 individuals. […] Genetic counseling should be offered to the affected families. […] Prognosis is variable. During the neonatal period, there is a risk of sepsis and electrolyte imbalance. The disease often remains stable throughout life, with periods of exacerbation. Life expectancy is normal after the somewhat critical neonatal period. LI has a strong impact on quality of life due to altered physical appearance, troublesome symptoms, and the many constraints due to the disease and its treatment.

• #9 Lamellar Ichthyosis Epidemiology Forecast 2034

  https://www.expertmarketresearch.com/epidemiology-reports/lamellar-lchthyosis-epidemiology-forecast

  The lamellar ichthyosis epidemiological forecast indicates that lamellar ichthyosis is a common form of autosomal recessive congenital ichthyosis. The prevalence of lamellar ichthyosis in Europe is estimated to be between 1 in 100,000 and 1 in 300,000 individuals, as per the Orphanet. In the United States, the incidence of lamellar ichthyosis is between 5 and 10 cases per 100,000 individuals, according to a 2024 review article. Further, studies show that the condition equally affects both sexes and occurs across all racial and ethnic groups. […] According to Orphanet, lamellar ichthyosis is the most common form of autosomal recessive congenital ichthyosis (ARCI), with the prevalence in Europe estimated to be between 1 in 100,000 and 1 in 300,000 individuals. […] As per Maritska, Ziske, et al. (2024), lamellar ichthyosis affects about 1 in 200,000 people. This condition does not discriminate by sex, race, or ethnicity, and can occur in individuals from any racial or ethnic group.

• #10 Lamellar ichthyosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/lamellar-ichthyosis/

  Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 91,000 individuals are affected. […] Mutations in one of many genes can cause lamellar ichthyosis. […] The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to infections. […] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

• #11 Autosomal Recessive Congenital Ichthyosis | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-autosomal-recessive-congenital-ichthyosis-articulo-S1578219013000607

  The combined prevalence of LI and CIE has been estimated at 1 case per 138 000 to 300 000 population. […] In some countries such as Norway, the estimated prevalence is greater (1 per 91 000) due to founder mutations. […] In Spain, the estimated prevalence of ARCI is 1 per 138 000 in the general population and 1 per 61 700 among children under 10 years of age. […] In certain regions of Spain, the prevalence might be even higher. On the Galician coast, for example, a prevalence of 1 per 33 000 was reported, due also to a founder effect. […] Only limited data are available on the epidemiology of ARCIs. In the United States, a prevalence at birth of 1 per 100 000 population for LI and of 1 per 200 000 population for CIE has been estimated. […] Other studies have reported a combined prevalence for LI and CIE of 1 per 200 000 to 300 000 population.

• #12 Harlequin Ichthyosis: Background, Etiology, Epidemiology

  https://emedicine.medscape.com/article/1111503-overview

  Approximately 200 cases of harlequin ichthyosis have been reported. The incidence is calculated to be around 1 case in 300,000 births. […] No racial predilection is known for harlequin ichthyosis. A higher incidence may be encountered in cultures where parental consanguinity is common. […] Sex distribution appears to be equal.

• #13 Harlequin-type ichthyosis – Wikipedia

  https://en.wikipedia.org/wiki/Harlequin-type_ichthyosis

  The condition occurs in roughly 1 in 300,000 people. As an autosomal recessive condition, there is a higher likelihood of consanguinity.[7] […] Harlequin-type ichthyosis affects around 1 in 300,000 births.[7]

• #14 Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes | BMC Medical Genomics | Full Text

  https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-00987-y

  Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. […] HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid transport, and it helps maintain the homeostasis of the stratum corneum of the epidermis. However, due to the wide spectrum of genetic alterations that can cause ichthyosis, holistic medical care, and genetic studies are required to improve the diagnosis and outcomes of these diseases. […] HI is the most severe and aggressive phenotype of ARCI and it is a rare and commonly fatal skin disorder. Approximately 200 cases of HI have been reported in the medical literature; it is estimated that the incidence is around 1 case per 500,000 births and its distribution by sex seems to be the same between males and females.

• #15 Harlequin ichthyosis

  https://dermnetnz.org/topics/harlequin-ichthyosis

  Harlequin ichthyosis is rare, and both sexes are affected in equal numbers. It affects approximately one in 300,000 newborns. […] There is no racial predilection known for harlequin ichthyosis. Higher incidence may be encountered in cultures where parental consanguinity is common. […] The diagnosis of harlequin ichthyosis relies on a physical examination of the patient and genetic laboratory investigations. Genetic testing for a loss of function mutation in the ABCA12 gene is the most specific diagnostic test for harlequin ichthyosis. […] In the past, harlequin ichthyosis infants rarely survived beyond the first few days of life. With advancements in neonatal care, the survival rate has improved, with worldwide figures approaching 50%.

• #16 Ichthyosis vulgaris: An updated review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9892433/

  The frequency of FLG mutation is 8%10% among the general population. The spectrums of filaggrin mutations vary according to ancestral populations with R501X and 2282del4 being the most common ones among Europeans. These are less widespread in Asian populations where 3321delA is most common (absent in Europe), whereas E2422X is observed in both European and Asian populations. […] Since lossoffunction mutations in FLG are a major genetic predisposing factor for atopic dermatitis, 2.5%37% patients with AD possess clinical evidence of ichthyosis vulgaris. A statistically significant (p 0.001) association is also seen between longer eyelashes and hyperlinearity (p = 0.019), a major symptom of ichthyosis vulgaris.

• #17 Ichthyosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1198130-overview

  An increased risk of testicular cancer in men with ichthyosis vulgaris has been suggested. In addition, an increased incidence of testicular maldescent, cryptorchidism, abnormalities of the sperm count or motility leading to infertility, and testicular cancer has been reported in patients with X-linked recessive ichthyosis. […] In general, all races may be affected in the inherited and acquired forms of ichthyosis. […] X-linked recessive ichthyosis is much more prevalent in males. It is caused by a deficiency of STS. Because this enzyme plays an important role in androgen metabolism, men with this ailment do not show androgenetic alopecia or develop only mild forms of this common type of hair loss.

• #18 Ichthyosis – wikidoc

  https://www.wikidoc.org/index.php/Ichthyosis

  Ethnicity is not associated with ichthyosis. […] Ichthyosis of varying severity is well-documented in some popular breeds of domestic dogs. The most common breeds in which this condition manifests itself are Golden retrievers, American bulldogs, Jack Russell terriers, and Cairn terriers.

• #19 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-are-Ichthyoses.aspx

  Ichthyoses involve a group of genetic disorders, caused by the inheritance of a fault or defective gene. […] Ichthyoses have been linked to mutations in more than 50 genes. […] With an estimated prevalence of 1 in 250 to 1 in 1000 births, IV is the most frequent form of non-syndromic hereditary ichthyosis. […] The incidence of ARCI is estimated to be one in every 200,000 births. […] Ichthyosis with confetti (IWC) is extremely rare with a prevalence of less than 1 case in 1,000,000 births. […] The importance of genetic counseling in the management of Ichthyoses is highly significant.

• #20

  https://journals.lww.com/ijpd/fulltext/2024/25020/clinical_spectrum_of_congenital_ichthyosis_in.4.aspx

  The most common phenotype was ichthyosis vulgaris, seen in 13 (40.6%) children, while X-linked recessive ichthyosis was present in 6 (18.75%) children. Epidermolytic ichthyosis (EI) was also seen in 6 (18.75%) children, out of which 5 were diagnosed with generalized EI and 1 was diagnosed with superficial EI. Lamellar ichthyosis was seen in 4 (12.5%) children. […] A history of consanguinity was present in 14 (43.75%) children. […] A history of winter aggravation of ichthyosis was noted in 27 (84.3%) children, while only 5 (15.6%) children gave a history of summer aggravation. […] This study was undertaken to do a clinical-epidemiological evaluation of the children with CI. There is a paucity of Indian studies regarding this. Since inheritance plays a very important role in this condition, detailed genetic counseling is required for affected families.

• #21

  https://link.springer.com/article/10.1007/s00403-025-03884-x

  Genetic deletions at Xp22.31 associated with the rare dermatological condition X-linked ichthyosis (XLI) predispose to cardiac arrhythmias. […] We have recently shown that men and boys diagnosed with XLI, or carrying the associated genetic variants, are at significantly elevated risk of arrhythmias, with up to 35% of such individuals potentially affected at some point in their lives; we further identified stress as a commonly-reported precipitating factor for arrhythmic episodes. […] Heart rhythm abnormalities can result in turbulent blood flow through the heart and increased risk of thrombus formation and subsequent embolism; they have been associated with vulnerability to heart failure, stroke and accelerated cognitive decline/dementia. […] Our previous work showed that males with XLI recognise the long-term health implications of arrhythmias and the potential value of cardiac screening.

• #22 Harlequin ichthyosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/harlequin-ichthyosis/

  Harlequin ichthyosis is very rare; its exact incidence is unknown. […] Harlequin ichthyosis is a severe genetic disorder that affects the skin. […] Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. […] It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, babies with this disorder now have a better chance of living into childhood and early adulthood.

• #23

  https://journals.lww.com/ijd/fulltext/2024/03000/clinico_epidemiologic_profile_of_non_syndromic.1.aspx

  Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature. There is scanty epidemiologic data regarding the clinical profile and histologic patterns of inherited ichthyosis from resource-poor countries. […] The exact prevalence of congenital ichthyosis has not been determined in India but has been estimated at 13.3 per million people in a study in France. […] Important clinical findings like erythema and the type of scales as well as histological differences including an absent or reduced granular layer in ichthyosis vulgaris can help differentiate among the clinical phenotypes of inherited non-syndromic ichthyosis especially in resource-poor settings. Also, there is a high prevalence of vitamin D deficiency and hence a need for screening for the same in all patients of congenital ichthyosis including the milder phenotypes.

• #24 Ichthyosis

  https://www.pcds.org.uk/clinical-guidance/ichthyosis

  Is the most common form of ichthyosis. In one study it affected 1 in 250 school children […] The majority of patients will have an inherited ichthyosis, and depending on the type genetic testing may be needed […] Patients with acquired ichthyosis require thorough investigation to look for an underlying cause, which includes: […] A more sudden onset of acquired ichthyosis similar to the pattern of ichthyosis vulgaris in adult life or with a generalized eczema craquel appearance suggests the possibility of internal malignancy, particularly if it occurs in a younger age group. Paraneoplastic ichthyosis is typically very extensive, affecting the trunk and having quite prominent fissuring. Other paraneoplastic signs have been reported to be present in conjunction with acquired ichthyosis, including erythema gyratum repens, Bazex syndrome and dermatomyositis. The strongest association is with Hodgkin disease (accounting for over 70% of cases) and other lymphoreticular tumours, including T-cell lymphomas, leukaemias, myelodysplastic syndrome, multiple myeloma and polycythaemia vera. Cases linked with solid tumours are also well documented, including cancers of the ovary, kidney, liver and breast, as well as leiomyosarcoma. A course paralleling that of an underlying lymphoma (including resolution related to treatment) is usual.

• #25 Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

  https://www.mdpi.com/2227-9059/12/5/1112

  Inherited ichthyoses are rare heterogeneous disorders of skin keratinization characterized by generalized and persistent skin dryness and scaling of variable degrees. […] Over 50 genes, which also show a high degree of allelic heterogeneity, have been related to inherited ichthyosis to date. Among the isolate forms, autosomal recessive congenital ichthyosis (ARCI) is very rare, with a worldwide estimated prevalence of 1:100,000–300,000, whereas X-linked ichthyosis (XLI) is relatively common, with an estimated incidence between 1:2000 and 1:6000 male newborns. […] Due to their rarity and diversity, with overlapping or heterogeneous phenotypes that evolve over the years, an accurate and rapid classification of congenital ichthyosis is challenging. Multigene NGS analysis is the method of choice for the comprehensive molecular testing and early classification of patients affected by any type of ichthyosis, including XLI and IV.

• #26 Reference centers for epidermolysis bullosa and ichthyosis: an urgent need in spain | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-reference-centers-for-epidermolysis-bullosa-articulo-S1578219013000905

  Dermatologists working primarily with children are familiar with the problems faced by patients who have rare genetic skin diseases. […] Two recent studies that estimated the prevalence in Spain of DEB and autosomal recessive congenital ichthyosis (ARCI), respectively, reported an approximate prevalence of 6.0 cases per million inhabitants for DEB and 7.2 cases per million inhabitants for ARCI. […] The same studies also showed that the majority of patients in Spain who have these diseases lack a genetic diagnosis and are not treated in a specialized setting; that is, they do not have access to a hospital staffed by experts and equipped with the material and human resources their treatment requires. […] As there are no officially recognized centers of reference in Spain for these rare diseases, it is impossible to refer affected patients to the hospital that can offer them the best medical attention for their condition.

• #27 Ichthyosis – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/cornification-disorders/ichthyosis

  Diagnosis is based on clinical evaluation including dermatologic features, age of onset, family history, and evidence of an associated or underlying disorder. […] Genetic testing is useful in establishing or confirming specific types of ichthyosis and in genetic counseling. […] Research is ongoing in the development of molecular treatments for ichthyoses and related diseases, including protein and enzyme replacement, repurposed biologic agents, small-molecule agents, and gene replacement and editing.

• #28 Surveillance of Congenital Ichthyosis in Neonates (SCIN) – Health Research Authority

  https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/surveillance-of-congenital-ichthyosis-in-neonates-scin/

  Ichthyosis is a group of incurable genetic conditions with abnormally thick, scaly skin. The most severe types, known as autosomal recessive congenital ichthyosis (ARCI) are present at birth. […] We do not know the exact numbers of babies and children affected by ichthyosis. With active surveillance through the British Paediatric Surveillance Unit, we aim to improve care for these children and families, reducing misconceptions about the disease, variation in practice, and avoidable deaths. […] Ichthyosis is considered a public health priority see http://www.genodermatoses-network.org/spip.php?rubrique256.

• #29 G613 SCIN: surveillance of congenital ichthyosis in neonates in UK and Ireland: a BPSU interim report | Archives of Disease in Childhood

  https://adc.bmj.com/content/105/Suppl_1/A220.1

  Ichthyosis is a group of incurable genetic skin conditions. Severe types usually present at birth as collodion membrane (CM) or harlequin ichthyosis (HI): the latter has a neonatal mortality rate of up to 44%. […] We aim to establish the incidence, neonatal management and mortality of CM and HI in UK and Ireland. […] Our data shows wide variation in neonatal management and significant mortality. This data will support an application to NHS England for funding for a highly specialised service for severe ichthyosis. We urge colleagues to notify us of all new cases to ensure an accurate national picture.

• #30 Validity of First-Time Diagnoses of Inherited Ichthyosis in the Danish | CLEP

  https://www.dovepress.com/validity-of-first-time-diagnoses-of-inherited-ichthyosis-in-the-danish-peer-reviewed-fulltext-article-CLEP

  Inherited ichthyosis is a monogenetic disease characterized by hyperkeratosis and scaling of the skin, with large interindividual variation in severity. […] Population-based data on inherited ichthyosis are lacking, which hampers studies into its epidemiology. […] The PPV of first-time diagnosis of inherited ichthyosis made at specialized dermatological departments in the Danish National Patient Registry is approximately 80%. […] Diagnoses from the Danish Pathology Registry had low PPVs precluding their use for research. […] The validity of first-time inherited ichthyosis diagnoses recorded at specialized dermatological departments in the DNPR was at a moderate level of approximately 80%. […] However, SNOMED diagnoses in the DPR have low validity, precluding for identifying inherited ichthyosis for research. […] A new database, Danish National Database for Genodermatoses, has just been launched to address this need.

• #31 Ichthyosis: A Road Model for Skin Research | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3433

  Despite a thick stratum corneum (SC), patients with ichthyosis usually have variably increased transepidermal water loss (TEWL). This is due to various defects in the biosynthesis of proteins and lipids essential for normal barrier formation, specific for each of the 4 main types of non-syndromic ichthyosis (4): […] Considering the many different aetiologies of ichthyosis, it is not far-fetched to assume that homeostatic responses in epidermis will differ depending on the genotype and the extent of barrier insufficiency it causes. One way of testing this hypothesis is to study the global mRNA expression in epidermis, using microarray analysis of transcriptomes extracted from tissue biopsies and searching for differently expressed genes (DEGs) in ichthyosis compared with normal skin. […] Thanks to research mainly from France, Germany, Japan, Scandinavia, UK and the USA, it is now possible to genetically diagnose all forms of common and keratinopathic ichthyosis, and 85-90% of cases with ARCI.

• #32 Ichthyosis | Nature Reviews Disease Primers

  https://www.nature.com/articles/s41572-022-00412-3

  The ichthyoses are a large, heterogeneous group of skin cornification disorders. […] An accurate molecular diagnosis is, however, crucial for predicting prognosis and providing appropriate genetic counselling. […] Most ichthyoses severely affect patient quality of life and, in severe forms, may cause considerable disability and even death. […] A better understanding of the molecular mechanisms that underlie these conditions is essential for designing pathogenesis-driven and patient-tailored innovative therapeutic solutions. […] This paper presents an in-depth epidemiological study on the rare forms of ichthyosis. […] This publication provides a diagnostic approach to ichthyosis in newborns. […] This publication reports statistical analysis of the factors affecting QoL in patients with ichthyosis.

• #33 Orphanet: Harlequin ichthyosis

  https://www.orpha.net/en/disease/detail/457

  The incidence is estimated to be less than 1/300,000 births. […] The disease is transmitted as an autosomal recessive trait. Genetic counseling should be offered to the affected families informing them of the 25% risk of recurrence in each pregnancy.

• #34 Ichthyosis

  https://www.rch.org.au/kidsinfo/fact_sheets/Ichthyosis/

  Ichthyosis is a group of genetic skin diseases that cause dry, scaly, thickened skin. […] It is usually present at birth or develops in childhood. […] Most children with ichthyosis have a mild form of the condition, with few effects on their general health and wellbeing. In some children ichthyosis is very severe and affects the entire skin surface or causes blisters. […] Treatment may involve medications and always taking good care of the skin. […] If your child is prescribed retinoid medication they will need regular blood tests and check-ups. […] The dermatology department at The Royal Children’s Hospital manages children with ichthyosis. Genetic counselling can also be arranged to discuss any aspect of the inheritance and risk to future pregnancies. […] Prenatal testing is available for some types of ichthyosis. Discuss this with your GP or obstetrician.

• #35

  https://journals.lww.com/ijd/fulltext/2024/03000/clinico_epidemiologic_profile_of_non_syndromic.1.aspx

  The molecular diagnosis of ichthyosis is limited by its high cost, involvement of a vast number of genes, genetic heterogeneity and inability to detect pathogenic mutations in a subset of patients. Thus, establishing clinico-histologic indicators to differentiate between the phenotypes of congenital ichthyoses can be a cost-effective strategy in resource poor settings.

• #36 Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes | BMC Medical Genomics | Full Text

  https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-00987-y

  There are no curative treatments for HI, but systemic retinoid has been used with good results, especially acitretin, because its shorter halflife offers a safety profile. […] Children who survive the neonatal period have an average life expectancy and tend to develop intense erythroderma, like severe congenital ichthyosiform erythroderma with ocular complications related to persistent ectropion, limitations in growth, and a limitation of fine motor skills, and they present problems in social relationships, which affect the quality of life in these patients. […] To confirm the diagnosis and gene damage in patients with hereditary ichthyoses, DNA analysis has been used for more than 30 years by the Sanger sequencing method, which has represented challenges due to its high cost and the time necessary for developing the test. […] Prenatal diagnosis is also possible, the identification of the gene mutation with DNA analysis by chorionic villus or amniotic fluid cell sampling at earlier stages of pregnancy or diagnostic using 3D/4D ultrasound since these methods can be observed signs suggestive of hereditary ichthyoses.

• #37 Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes | BMC Medical Genomics | Full Text

  https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-00987-y

  The ABCA12 gene has been associated with important functions in the differentiation of keratinocytes and epidermal morphogenesis, which is why the clinical features are so serious when there is a great alteration in its function. […] The severity of mutations of the ABCA12 gene is related to the clinical phenotype; other less serious pathologies such as lamellar ichthyosis and congenital ichthyosiform erythroderma are associated with partial defects in the function of the ABCA12 gene, in contrast, mutations that produce complete loss of this gene function generate HI. […] Historically, a newborn affected with HI frequently died within a few weeks after birth due to feeding problems, skin infections, electrolyte imbalance, and respiratory failure reaching mortalities around 50%. […] However, with the increased availability of neonatal intensive care units and the early administration of retinoid therapy, a marked reduction of mortality was achieved, as 80% of cases that receive timely and adequate treatment survived.

• #38 Congenital Ichthyosis Market Size 2024-2034

  https://www.imarcgroup.com/congenital-ichthyosis-market

  According to the report, the United States has the largest patient pool for Congenital Ichthyosis and represents the largest market for its treatment. […] The diagnosis of Congenital Ichthyosis is primarily based on a clinical examination and a thorough medical history. […] The escalating cases of genetic mutations in certain genes, particularly those responsible for skin barrier function, leading to the manifestation of chronic skin disorders, are primarily driving the Congenital Ichthyosis market. […] Additionally, the emerging popularity of gene therapy, which involves introducing functional genetic material into the skin cells to correct the mutated genes responsible for the disorder, thereby providing a long-term and targeted solution for patients, is expected to drive the Congenital Ichthyosis market during the forecast period.

• #39 Ichthyosis | Nature Reviews Disease Primers

  https://www.nature.com/articles/s41572-022-00412-3

  This review discusses the treatment of ichthyosis with an emphasis on novel gene therapy studies. […] This paper presents research into the metabolic causes of ichthyosis; its supplementary figures provide a clear overview of the ceramide pathway. […] This publication provides a diagnostic approach to ichthyosis in newborns.

• #40 Ichthyosis Epidemiology Forecast 2034

  https://www.expertmarketresearch.com/epidemiology-reports/ichthyosis-epidemiology-forecast

  The ichthyosis epidemiology forecast suggests that the prevalence of the condition is likely to vary across different populations, influenced by genetic factors, healthcare access, and diagnostic improvements. Ichthyosis vulgaris has an incidence of 1 in 300 people. Epidermolytic hyperkeratosis occurs in 1 in 300,000 individuals, whereas X-linked recessive ichthyosis affects 1 in 6,000 males. Further, ichthyosis is estimated to affect 5 to 10 per 100,000 people worldwide, as per Maritska, Ziske, et al. (2024). […] Expert Market Research’s Ichthyosis Epidemiology Forecast Report 2025-2034 offers comprehensive information on the prevalence and demographics of ichthyosis. It projects the future incidence and prevalence rates of ichthyosis cases across various populations. The study covers age, gender, and type as major determinants of the ichthyosis population. The report highlights patterns in the prevalence of ichthyosis over time and projects future trends based on multiple variables.

• #41

  https://www.ichthyosis.org.uk/listing/category/ichthyosis-related-research

  An epidemiological study of people living with ichthyoses across England. […] The Ichthyosis Support Group have funded a team of researchers based at Newcastle University to use different techniques to understand ichthyoses from the laboratory to big-data. […] The UK rare disease research database for autosomal recessive congenital ichthyosis (ARCI). We are looking for children and adults affected by ARCI to take part in our research study. […] National research project which will study all new babies born in the UK with harlequin ichthyosis (HI) or collodion membrane (CM) for 2 years from November 2018.

• #42 Lamellar Ichthyosis Epidemiology Forecast 2034

  https://www.expertmarketresearch.com/epidemiology-reports/lamellar-lchthyosis-epidemiology-forecast

  The epidemiology of lamellar ichthyosis varies significantly between countries due to differences in factors such as genetic predispositions, healthcare access, and diagnostic practices. Populations with higher rates of consanguinity (marriage between close relatives) are likely to have a higher incidence of lamellar ichthyosis, as it is inherited in an autosomal recessive pattern. In the United States, the incidence of lamellar ichthyosis is between 5 and 10 cases per 100,000 individuals, according to a 2024 review article.

• #43 Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

  https://www.mdpi.com/2227-9059/12/5/1112

  Our comprehensive molecular analysis expands the genetic, mutational, and phenotypic spectra of inherited ichthyosis in the Italian population and provides new insight into the current understanding of etiologies and epidemiology of this group of rare and often underdiagnosed diseases, therefore providing new avenues for future research, especially those based on the discovery of genome-guided and/or targeted therapies.

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