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.
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.
Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients
M. BarbareschiSecondo
;
2002
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.File | Dimensione | Formato | |
---|---|---|---|
1-s2.0-S0190962202543206-main.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
123.89 kB
Formato
Adobe PDF
|
123.89 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.