title: Ichthyosis follicularis with alopecia and photophobia in a girl with cataract: histological and electron microscopy findings.
abstract: A rare congenital ectodermal disorder characterized by ichthyosis follicularis, alopecia and photophobia has been designated the acronym IFAP. An X-linked recessive mode of inheritance was initially proposed but a few recent reports in girls suggested genetic heterogeneity of this syndrome. We herein describe a 3-year-old girl with clinical and histological features typical of IFAP. In addition to the already known features of the syndrome the patient also developed bilateral cataract. Electron microscopy examination of the skin showed partial disruption of the intercellular bridges, spongiotic changes and decrease in the number and size of desmosomes supporting the notion that IFAP may be a cell-to-cell adhesion disorder.
authors.affiliation: Second Department of Paediatrics, P. and A. Kyriakou Children's Hospital, University of Athen School of Medicine, Greece. matsolia@ath.forthet.gr
authors.forename: Maria
authors.initials: M
authors.lastname: Tsolia
authors.forename: Kyriaki
authors.initials: K
authors.lastname: Aroni
authors.forename: Ioanna
authors.initials: I
authors.lastname: Konstantopoulou
authors.forename: Themistokles
authors.initials: T
authors.lastname: Karpathios
authors.forename: Theano
authors.initials: T
authors.lastname: Tsoukatou
authors.forename: Helen
authors.initials: H
authors.lastname: Paraskevakou
authors.forename: Christodoulos
authors.initials: C
authors.lastname: Stavrinadis
authors.forename: Andrew
authors.initials: A
authors.lastname: Fretzayas
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000505:Alopecia / Q000473:pathology*; D001706:Biopsy; D002386:Cataract / Q000473:pathology*; D002675:Child, Preschool; D016510:Corneal Neovascularization / Q000473:pathology; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D008854:Microscopy, Electron; D020795:Photophobia / Q000473:pathology*; D012535:Scalp / Q000473:pathology