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    Glossary Clouston Syndrome

    Clouston syndrome, also known as hidrotic ectodermal dysplasia, is a rare genetic disorder characterized by hair loss, nail abnormalities, and skin changes. It is caused by mutations in the GJB6 gene, which encodes a protein essential for the function of gap junctions in epithelial cells. Individuals with Clouston syndrome typically experience hair thinning or complete alopecia, often accompanied by the presence of thickened or ridged nails. This condition highlights the intricate relationship between genetic factors and hair biology, particularly in the development and maintenance of hair follicles.

    Research 10 of 89

    1. The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region American Journal of Medical Genetics · 1997 · 39 citations
    2. Clouston syndrome associated with eccrine syringofibroadenoma Anais Brasileiros de Dermatologia · 2014 · 18 citations
    3. A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? Clinical Dysmorphology · 1995 · 9 citations
    4. When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma Indian Dermatology Online Journal · 2025
    5. Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation Case reports in dermatological medicine · 2023
    6. Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations Indian Journal of Paediatric Dermatology · 2022
    7. Clouston’s Syndrome-A Case Report Annals of King Edward Medical University · 2021
    8. Clouston’s syndrome: a rare case report International Journal of Research in Dermatology · 2020
    9. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    10. Painful thickened skin on the soles of the feet JAAD case reports · 2022
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