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J Am Acad Dermatol. 2002 May;46(5 Suppl):S156-8.

Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients.

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  • 1Centro Malattie Cutanee Ereditarie, Istituto di Scienze Dermatologiche, IRCCS Policlinico, Università di Milano, Italia. stefanodoc@tiscalinet.it

Abstract

The IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered.

PMID:
12004300
[PubMed - indexed for MEDLINE]
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