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    Glossary X-linked ichthyosis

    genetic skin disorder causing dry, scaly skin in males

    X-linked ichthyosis, also known as steroid sulfatase deficiency, is a genetic skin disorder that primarily affects males. It is caused by mutations in the STS gene on the X chromosome, leading to a deficiency in the enzyme steroid sulfatase. This results in the accumulation of cholesterol sulfate in the skin, causing dry, scaly skin that often appears at birth or within the first year of life.

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    1. Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2014 · 87 citations
    2. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    3. Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature European Journal of Pediatrics · 2012 · 7 citations
    4. Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis Dermatology · 2000 · 16 citations
    5. Absence of Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis? Dermatology · 1999 · 9 citations
    6. Male-Pattern Baldness Is Common in Men with X-Linked Recessive Ichthyosis Dermatology · 2003 · 6 citations
    7. Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis Acta Dermato Venereologica · 1987 · 8 citations
    8. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    9. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    10. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
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