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.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

“…On electron microscopy moderate spongiotic changes associated with partial disruption of the intercellular bridges, decreased desmosomes in number and size, and some dyshesion of the cells could be seen [21]. Examination of the cornea with EM can show reduced number of desmosomes in the corneal epithelium, dispersed bundles of tonofilaments and dilated intercellular gaps with segregated desmosome remnants [5]…”

Ichthyosis follicularis, alopecia, and photophobia syndrome

“…They were identical to those described in previous cases suggesting features of keratosis pilaris which support the clinical diagnosis of IFAP. [ 7 ] IFAP syndrome should be differentiated from keratosis follicularis spinulosa decalvans (KFSD) [ Table 1 ]. KFSD is characterized by scarring alopecia in contrast to IFAP.…”

“…[ 9 ] Genetic counseling should be given as the syndrome is associated with X-linked recessive or autosomal dominant mode of inheritance. [ 3 7 ]…”

Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man

“…This pattern was evident in an affected Japanese mother and daughter. 16 In recent years, there are several reports of girls with characteristic features of this syndrome, 17,18 so mode of inheritance is not yet definitely determined.…”