Clinical, Cosmetic and Investigational Dermatology (Dec 2023)
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
Abstract
Nouf F Bin Rubaian,1 Bashayer S Al-Awam,2 Abdulelah Hassan Alluhaybi,1 Ahmed Abdulaziz Alsaati3 1Dermatology Department, King Fahad Hospital of the University, Imam Abdulrahman bin Faisal University, Al-Khobar, Saudi Arabia; 2Department of Pediatrics, College of Medicine, King Fahad Hospital of the University, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia; 3Dermatology Department, College of Medicine, King Faisal University, Al-Hofuf, Saudi ArabiaCorrespondence: Ahmed Abdulaziz Alsaati, Dermatology Department, College of Medicine, King Faisal University, Al-Hofuf, Saudi Arabia, Tel +966555828542, Email [email protected]: Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare autosomal recessive, X-linked, genetic disorder that involves a triad of follicular ichthyosis, atrichia of the scalp, and photophobia. 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.Keywords: X-linked, genetic disorder, dermatology, follicular plugging
