Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.
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.
Mégarbané
Hala
H
Service de Dermatologie, Hôtel-Dieu de France, Beirut, Lebanon. megarban@dm.net.lb
Zablit
Cynthia
C
Waked
Naji
N
Lefranc
Gérard
G
Tomb
Roland
R
Mégarbané
André
A
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000505:Alopecia / Q000473:pathology*; D002648:Child; D005192:Family Health; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D020795:Photophobia / Q000473:pathology*; D013577:Syndrome