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    Glossary IFAP Syndrome

    rare genetic disorder causing scaly skin, no hair, light sensitivity

    IFAP Syndrome, also known as Ichthyosis Follicularis Atrichia Photophobia Syndrome, is a rare genetic disorder characterized by three main features: ichthyosis follicularis (a skin condition causing dry, scaly skin), atrichia (absence of hair), and photophobia (sensitivity to light). It is typically inherited in an X-linked recessive pattern, meaning it primarily affects males, and is caused by mutations in the MBTPS2 gene.

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    1. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin 2005 · 40 citations
    2. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    3. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    4. Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot Human Genome Variation · 2026
    5. Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant Human Genome Variation · 2026
    6. An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery Clinical Cosmetic and Investigational Dermatology · 2025
    7. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    8. 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
    9. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    10. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
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