Incontinentia pigmenti in male patients.
J Am Acad Dermatol
; 55(2): 251-5, 2006 Aug.
Article
em En
| MEDLINE
| ID: mdl-16844507
ABSTRACT
BACKGROUND:
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is typified by distinctive cutaneous findings and often by abnormalities of teeth, hair, nails, eyes, musculoskeletal system, and central nervous system. The gene that is mutated in patients with IP has been mapped to Xq28 and encodes the NF-kappaB essential modulator, NEMO. Female patients with IP show functional mosaicism and cutaneous manifestations follow Blaschko's lines of ectodermal embryologic development. The condition is generally considered to be lethal in utero in male fetuses, suggesting that having some normal gene expression is critical for survival. OBSERVATIONS We observed 9 boys with IP. All had normal karotypes and no apparent family history of IP. In 8 of these 9 patients, lesions were localized to one extremity at presentation. The diagnosis was confirmed by histopathologic examination that showed eosinophils within intraepidermal, multiloculated vesicles. One of the boys later developed dental and neurologic abnormalities.LIMITATIONS:
The case series was small and the workup for these patients from different sites was not uniform.CONCLUSIONS:
Male individuals may show cutaneous and noncutaneous features of IP in a limited distribution that allows survival. Postzygotic mutation/somatic mosaicism is the likely mechanism. Given the potential sequelae associated with this condition, continuing follow-up of these patients is recommended.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Incontinência Pigmentar
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Am Acad Dermatol
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Estados Unidos