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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. Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis Dermatology · 2000 · 16 citations
    4. Absence of Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis? Dermatology · 1999 · 9 citations
    5. 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
    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
    11. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    12. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    13. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    14. Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition Endocrine Reviews · 2005 · 451 citations
    15. Roles of steroid sulfatase in brain and other tissues Physiological Research · 2008 · 22 citations
    16. Postgraduate seminar in pediatric dermatology Journal of The American Academy of Dermatology · 1982
    17. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes 2011
    18. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    19. Disorders of Keratinization 2014
    20. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    21. Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency Archives of dermatology · 2011 · 13 citations
    22. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
    23. Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man International Journal of Dermatology · 2011 · 2 citations
    24. Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin International journal of trichology · 2022 · 1 citations
    25. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    26. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    27. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    28. Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria Pediatric Dermatology · 1997 · 7 citations
    29. Harlequin fetus with abnormal lamellar granules and giant mitochondria Journal of Cutaneous Pathology · 1992 · 34 citations
    30. Formation of the cornified envelope Experimental dermatology · 2005 · 3 citations