Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients
Articolo
Data di Pubblicazione:
2002
Citazione:
Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients / S. Cambiaghi, M. Barbareschi, G. Tadini. - In: JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY. - ISSN 0190-9622. - 46:suppl. 5(2002 May), pp. S156-S158.
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Abnormalities, Multiple; Alopecia; Child, Preschool; Female; Follow-Up Studies; Humans; Ichthyosis, X-Linked; Keratosis; Photophobia; Syndrome
Elenco autori:
S. Cambiaghi, M. Barbareschi, G. Tadini
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