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

We report a case of an 8-year-old boy with alopecia of the scalp, eyebrows, and eyelashes, which occurred in his first year of age. His birth was uneventful, and his developmental milestones were normal. The alopecia was non-scarring and was accompanied by mild generalized xerosis, photophobia, and recurrent angular cheilitis. Moreover, numerous non-inflammatory, follicular, keratotic tiny papules were noticed. His deciduous teeth had retention with gum hyperplasia, and his feet showed symmetrical plantar keratoderma and nail dystrophy of the right big toe. The genetic testing confirmed an X-linked recessive inheritance of IFAP syndrome without BRESHECK syndrome due to the mutation in the MBTPS2 (300294) gene located on chromosome Xp22.12. The patient was given symptomatic treatment with urea cream for plantar keratoderma and was advised to apply constant moisturizers to avoid generalized xerosis. Dermatological and ophthalmological follow-ups were recommended. This is the first case reported from Saudi Arabia. This case report throws light on the characteristics of IFAP syndrome and denotes the points of differentiation from similar conditions.PMID:38089015 | PMC:PMC10712326 | DOI:10.2147/CCID.S439288
Source: Clinical, Cosmetic and Investigational Dermatology - Category: Dermatology Authors: Source Type: research