Clinical diagnosis of incontinentia pigmenti in a cohort of male patients - 12/08/11
Reprint requests: Dr Matilde Valeria Ursini, Via P. Castellino, 111, 80131 Naples, Italy.Naples and Milan, Italy
Abstract |
Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP. Six of the patients had neurologic, ophthalmologic, or dental manifestations as well. Three patients showed evidence by polymerase chain reaction analysis of both the normal NEMO gene and the exon 4-10 deletion in NEMO that occurs in the majority of affected girls with IP, confirming postzygotic mosaicism for the NEMO gene.
Le texte complet de cet article est disponible en PDF.Abbreviations used : EDI, IP, OMIM, NEMO, PCR
| Supported by a Fondo per gli Investimenti della Ricerca di Base (FIRB) grant from Ministero Italiano Universita’e Ricerca (MIUR) and by European Union project GENE SKIN (contract No. 512117). Conflicts of interest: None identified. |
Vol 56 - N° 2
P. 264-267 - février 2007 Retour au numéro
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