Data di Pubblicazione:
2007
Citazione:
Proposal for a protocol for the staging of incontinentia pigmenti in pediatric age / D. Portaleone, F. Taroni, S. Micheli, M. Moioli, A. Pedrazzini, P. Cognizzoli, V. Carnelli. - In: MINERVA PEDIATRICA. - ISSN 0026-4946. - 59:3(2007), pp. 255-265.
Abstract:
Incontinentia Pigmenti (IP) is an X-linked dominant disorder of skin with neurologic and ophthalmologic involvement. IP predominantly affects females because the mutations are usually lethal in males in utero. IP is characterized by abnormalities of neuroectodermal tissues. IP is caused by mutations in a gene called NEMO, which is required to activate the NF-kB pathway. We present a diagnostic protocol for IP and a meta-analysis of the clinical spectrum of IP in 82 patients cited by MEDLINE in the European literature from 2000 to 2006. [References: 31]
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Child; Skin; Skin disorders
Elenco autori:
D. Portaleone, F. Taroni, S. Micheli, M. Moioli, A. Pedrazzini, P. Cognizzoli, V. Carnelli
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