Turkderm-Turk Arch Dermatol Venereol. 2014; 48(2): 108-110 | DOI: 10.4274/turkderm.34022

The case of ichthyosis follicularis, alopecia and photophobia syndrome with retinal detachment

Bengü Nisa Akay¹, Nehir Parlak², Seçil Saral³, Aynur Akyol^1
1Ankara University Medical Faculty, Department Of Dermatology And Venereology, Ankara, Turkey
²Prof. Dr. Celal Ertuð Etimesgut State Hospital, Department Of Dermatolog And Venereology, Ankara, Turkey
³Adýyaman Besni State Hospital, Department Of Dermatology And Venereology, Akara, Turkey

Ichtiyosis follicularis, alopecia and photophobia (IFAP) syndrome is a rare congenital ectodermal syndrome with X-linked inheritance. It occurs as a result of missense mutation in chromosome Xp22.11-Xp22.13 locus of MBTPS2 gene. It usually affects men and family history is always negative. Ichtiyosis follicularis and alopecia starts with birth. Photophobia and eye symptoms begin in early infancy or childhood. Other manifestations of the syndrome include short stature, mental retardation and seizures. There are no spesific histopathological findings specific for ichtyosis follicularis. A 29 years old male patient was admitted to outpatient clinic. Dermatological examination revealed keratosis pilaris localized to scalp, extremities and anterolateral of the body. Patient had xerosis, diffuse alopecia and prominent folicular appereance. Eye examination revealed cataracts and vision loss. These findings led us to IFAP syndrome diagnosis. The patient is presented for the rarity of the syndrome in the literature.

Keywords: IFAP syndrome, ichthyosis follicularis, alopecia, photophobia

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Retina dekolmanýnýn eþlik ettiði iktiyozis folikülaris, alopesi ve fotofobi sendromlu bir olgu

Bengü Nisa Akay¹, Nehir Parlak², Seçil Saral³, Aynur Akyol^1
1Ankara Üniversitesi Týp Fakültesi, Deri Ve Zührevi Hastalýklar Ana Bilim Dalý, Ankara
²Prof. Dr. Celal Ertuð Etimesgut Devlet Hastanesi, Deri Ve Zührevi Hastalýklar Kliniði, Ankara
³Adýyaman Besni Devlet Hastanesi, Deri Ve Zührevi Hastalýklar Kliniði, Adýyaman

Ýktiyozis folikülaris, alopesi ve fotofobi (IFAP) sendromu X’e baðlý kalýtýlan, nadir görülen konjenital ektodermal bir sendromdur. Xp22.11-Xp22.13 bölgesindeki MBTPS2 geninde missense mutasyon sonucu oluþur. Genellikle erkekleri etkiler ve aile öyküsü bulunmaz. Ýktiyozis folikülaris ve alopesi doðumdan itibaren görülürken, fotofobi erken çocukluk dönemine kadar görülebilir. Kýsa boy, mental retardasyon, nöbet görülebilen diðer ek bulgulardýr. Sipesifik histopatolojik bulgusu yoktur. Yirmi dokuz yaþýnda bir erkek olgu polikliniðimize baþvurdu. Yapýlan muayenesinde saçlý deride, kol-bacaklarda, gövdede, yüzde ve uyluklarda yaygýn keratozis pilaris, saçlý deride diffüz alopesi saptandý. Sað gözde katarakt ve görme kaybý tespit edildi. Bu bulgularla IFAP sendromu tanýsý konulan olgumuz literatürde oldukça nadir görülmesi nedeniyle sunulmaktadýr.

Anahtar Kelimeler: ÝFAP sendromu, iktiyozis folikülaris, alopesi, fotofobi

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