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

TLDR An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

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 cited in this study

2 / 2 results

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”

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

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”

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

Related Research

2 / 2 results

research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature

September 2020

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome Treated With Acitretin

40 citations, August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.