Maria N. Tsolia, Kyriaki Aroni, Ioanna Konstantopoulou, Themistokles Karpathios, Theano Tsoukatou, Helen Paraskevakou, Christodoulos Stavrinadis, Andrew Fretzayas
DOI: 10.1080/00015550410022230

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.