Document Detail

Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome.
MedLine Citation:
PMID:  17372104     Owner:  NLM     Status:  MEDLINE    
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.
Julie V Schaffer; Pranil Chandra; Brian R Keegan; Patricia Heller; Helen T Shin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of dermatology     Volume:  143     ISSN:  0003-987X     ISO Abbreviation:  Arch Dermatol     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-03-20     Completed Date:  2007-05-04     Revised Date:  2014-02-21    
Medline Journal Info:
Nlm Unique ID:  0372433     Medline TA:  Arch Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  386-91     Citation Subset:  AIM; IM    
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MeSH Terms
Dermatitis / pathology*
Granuloma / pathology*
Nod2 Signaling Adaptor Protein / genetics
Sarcoidosis / genetics,  pathology*
Skin Diseases / genetics,  pathology
Grant Support
Reg. No./Substance:
0/NOD2 protein, human; 0/Nod2 Signaling Adaptor Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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