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

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Ichthyosis follicularis with alopecia and photophobia in a girl with cataract: Histological and electron microscopy findings
Tsolia, MN Aroni, K Konstantopoulou, L Karpathios, T and Tsoukatou, T Paraskevakou, H Stavrinadis, C Fretzayas, A
scientific_publication_article
Επιστημονική δημοσίευση - Άρθρο Περιοδικού (EL)
Scientific publication - Journal Article (EN)
2005
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. (EN)
English
Ερευνητικό υλικό ΕΚΠΑ
https://creativecommons.org/licenses/by-nc/4.0/
University of Athens
Pergamos Digital Library
Journal Article



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