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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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    Research 30 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
    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. Metabolic features of the reproductive phenotypes of polycystic ovary syndrome Human Reproduction Update · 2009 · 286 citations
    13. A Comprehensive Approach in Diagnosing the Polycystic Ovary Syndrome Women's Health · 2015 · 5 citations
    14. Investigation of the Plausibility of 5-Alpha-Reductase Inhibitor Syndrome Skin appendage disorders · 2016 · 33 citations
    15. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    16. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    17. 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
    18. Hypotrichosis in a child with olmsted syndrome Indian Dermatology Online Journal · 2018
    19. Highlights JAMA Dermatology · 2016
    20. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    21. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    22. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    23. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    24. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    25. Molecular pathology of skin adnexal tumours Histopathology · 2021 · 16 citations
    26. Connexin mutations in human disease Experimental Dermatology · 2004 · 4 citations
    27. Congenital atrichia with papular lesions Indian Journal of Paediatric Dermatology · 2014 · 8 citations
    28. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    29. 496 Evaluation of extracts containing red clover using dermal papilla cells in the development of a scalp treatment system targeting hair loss and hair damage Journal of Investigative Dermatology · 2020
    30. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations