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Ichthyosis follicularis with alopecia and photophobia in a girl with cataract: histological and electron microscopy findings.

Tsolia M, Aroni K, Konstantopoulou I, Karpathios T, Tsoukatou T, Paraskevakou H, Stavrinadis C, Fretzayas A

Second Department of Paediatrics, P. and A. Kyriakou Children's Hospital, University of Athen School of Medicine, Greece. matsolia@ath.forthet.gr

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.

Published 25 April 2005 in Acta Derm Venereol, 85(1): 51-5.
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