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

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.

journal_name

J Am Acad Dermatol

journal_title

Journal of the American Academy of Dermatology

authors

Cambiaghi S,Barbareschi M,Tadini G

doi

10.1067/mjd.2002.112930

subject

Has Abstract

pub_date

2002-05-01 00:00:00

pages

S156-8

issue

5 Suppl

eissn

0190-9622

issn

1097-6787

pii

S0190-9622(02)54320-6

journal_volume

46

pub_type

杂志文章

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