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

AKAY B. N., Parlak N., Saral S., Akyol A.

TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, cilt.48, sa.2, ss.108-110, 2014 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 2
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/turkderm.34022
  • Dergi Adı: TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.108-110
  • Anahtar Kelimeler: IFAP syndrome, ichthyosis follicularis, alopecia, photophobia, IFAP SYNDROME, ATRICHIA, MUTATION, MBTPS2
  • Ankara Üniversitesi Adresli: Evet

Özet

Ichthyosis 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 the chromosome Xp22.11-Xp22.13 locus of the MBTPS2 gene. It usually affects men and family history is negative. Ichthyosis 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 specific histopathological finding. A 29-year-old male patient was admitted to our outpatient clinic. Dermatological examination revealed keratosis pilaris localized to the scalp, lower and upper extremities, thighs, face and the trunk. The patient had xerosis, diffuse alopecia and prominent hair follicles. Eye examination revealed cataract and vision loss in the right eye. These findings led us to the diagnosis of IFAP syndrome. The patient is presented for the rarity of the syndrome in the literature.