Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report

December 2023 in “ Clinical Cosmetic and Investigational Dermatology ”

Nouf Bin Rubaian, Bashayer Al-Awam, Abdulelah A. Alluhaybi, Ahmed A Alsaati

Ichthyosis Follicularis Alopecia Photophobia xerosis angular cheilitis follicular keratotic papules plantar keratoderma nail dystrophy MBTPS2 gene X-linked recessive inheritance dry skin cracked lips thickened skin on feet brittle nails

Studysummary This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

This case report describes an 8-year-old Saudi boy diagnosed with Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) syndrome, confirmed by a missense mutation in the MBTPS2 gene. The boy exhibited hair loss, skin dryness, and photophobia. The report underscores the importance of recognizing IFAP syndrome to avoid misdiagnosis and treatment delays, even in the absence of typical genetic disorder risk factors. The case contributes to the limited literature on IFAP syndrome and calls for further research and awareness of this rare genetic disorder.

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research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

34 citations , July 2020 in “American journal of human genetics”

This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.

research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome

71 citations , January 2011 in “Orphanet Journal of Rare Diseases”

This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.

research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation

14 citations , December 2010 in “Journal of human genetics”

This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.