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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review
Author(s) -
Mégarbané Hala,
Zablit Cynthia,
Waked Naji,
Lefranc Gérard,
Tomb Roland,
Mégarbané André
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20352
Subject(s) - photophobia , ichthyosis , dermatology , medicine , brachycephaly , genodermatosis , genetics , surgery , biology , skull , gene
Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis‐like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes. © 2003 Wiley‐Liss, Inc.