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.
34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
14 citations
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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.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
40 citations
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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.
