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

Aicha, Elharrouni Alaoui; Baybay, Hanane; Douhi, Zakia; Elloudi, Sara; Fz, Mernissi

doi:10.47363/jdmrs/2020(1)109

Cited by 1 publication

(1 citation statement)

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“…While photophobia and seizures may resolve spontaneously, anti-seizure medications may occasionally be necessary, and ocular lubrication is an integral therapeutic option. 14 Therefore, the presenting case was given symptomatic treatment with urea cream for plantar keratoderma along with moisturizers for the generalized xerosis. Follow-up visits were scheduled to ensure optimum management of cutaneous manifestations.…”

Section: Discussionmentioning

confidence: 99%

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

Bin Rubaian,

Al-Awam,

Alluhaybi

et al. 2023

CCID

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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.

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Section: Discussionmentioning

confidence: 99%