Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome.
Arch Dermatol
; 143(3): 386-91, 2007 Mar.
Article
em En
| MEDLINE
| ID: mdl-17372104
ABSTRACT
BACKGROUND:
Pediatric sarcoidosis has traditionally been divided into 2 distinct groups (1) school-aged children and adolescents with frequent involvement of the lungs and mediastinal lymph nodes (similar to adult sarcoidosis) and (2) infants and preschoolers with the triad of arthritis, uveitis, and a cutaneous eruption of discrete small papules, referred to as early-onset sarcoidosis. Blau syndrome, a rare autosomal dominant genodermatosis caused by mutations in the NOD2 (nucleotide-binding oligomerization domain 2) gene, has been considered as the familial form of early-onset sarcoidosis. OBSERVATIONS A 9-month-old boy developed an asymptomatic eruption of 1- to 2-mm, red-brown to pinkish tan, flat-topped papules on the face, trunk, and extremities. There was no evidence of ocular involvement or arthritis. The skin lesions were characterized histologically by noncaseating granulomas in a periadnexal distribution within the dermis. A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.CONCLUSION:
We draw attention to granulomatous dermatitis as an early manifestation of Blau syndrome and highlight emerging molecular evidence that this heritable autoinflammatory disorder and early-onset sarcoidosis represent a single disease entity.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sarcoidose
/
Dermatite
/
Granuloma
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Arch Dermatol
Ano de publicação:
2007
Tipo de documento:
Article