title: Clinical diagnosis of incontinentia pigmenti in a cohort of male patients.
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.
authors.affiliation: Institute of Genetics and Biophysics Adriano Buzzati-Traverso (IGB-CNR), Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Fusco
authors.forename: Giorgia
authors.initials: G
authors.lastname: Fimiani
authors.forename: Gianluca
authors.initials: G
authors.lastname: Tadini
authors.forename: D'Urso
authors.initials: D
authors.lastname: Michele
authors.forename: Matilde Valeria
authors.initials: MV
authors.lastname: Ursini
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics; D007184:Incontinentia Pigmenti / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction
chemical_list: C491731:IKBKG protein, human; D051550:I-kappa B Kinase