[Proposal for a protocol for the staging of incontinentia pigmenti in pediatric age].
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.
Portaleone
D
D
Seconda Clinica Pediatrica G. e D. De Marchi, Università degli Studi di Milano, Milano, Italy. dario.portaleone@unimi.it
Taroni
F
F
Micheli
S
S
Moioli
M
M
Pedrazzini
A
A
Cognizzoli
P
P
Carnelli
V
V
D054413:Chemokine CCL11; D019742:Chemokines, CC / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D016239:MEDLINE; D008297:Male; D009154:Mutation; D016328:NF-kappa B / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D012189:Retrospective Studies
C515456:CCL11 protein, human; D054413:Chemokine CCL11; D019742:Chemokines, CC; D016328:NF-kappa B; D051550:I-kappa B Kinase; C496560:IKBKB protein, human