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

Stefano Cambiaghi, Mauro Barbareschi, Gianluca Tadini

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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.

Original languageEnglish
JournalJournal of the American Academy of Dermatology
Volume46
Issue number5 SUPPL.
DOIs
Publication statusPublished - May 1 2002

ASJC Scopus subject areas

  • Dermatology

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