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The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X‐linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non‐scarring alopecia with variable severities. IFAP syndrome results… Click to show full abstract
The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X‐linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non‐scarring alopecia with variable severities. IFAP syndrome results from mutations in the gene encoding the membrane‐bound transcription factor peptidase, site 2 (MBTPS2).
Keywords:
ichthyosis follicularis;
follicularis alopecia;
mbtps2;
alopecia photophobia
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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recommendations!