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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.

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    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
    11. Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin International Journal of Dermatology · 2009 · 20 citations
    12. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    13. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    14. Association of early-onset androgenetic alopecia with metabolic syndrome: A case–control study on 46 patients in a tertiary care hospital in South India Indian Journal of Paediatric Dermatology · 2018
    15. Hypotrichosis in a child with olmsted syndrome Indian Dermatology Online Journal · 2018
    16. Highlights JAMA Dermatology · 2016
    17. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    18. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    19. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    20. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    21. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    22. Molecular pathology of skin adnexal tumours Histopathology · 2021 · 16 citations
    23. Connexin mutations in human disease Experimental Dermatology · 2004 · 4 citations
    24. Congenital atrichia with papular lesions Indian Journal of Paediatric Dermatology · 2014 · 8 citations
    25. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    26. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    27. Selected topics in pediatric hair loss Expert Review of Dermatology · 2007 · 2 citations
    28. Hair and Nail Relationship Skinmed · 2005 · 21 citations
    29. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    30. Essential oils-based nanoemulsion formulation boosts hair growth in C57BL/6 mice as compared to minoxidil 2% Discover Pharmaceutical Sciences · 2025