• Online Features  This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (2)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Dermatology  • Dermatologic Disorders  • Pediatrics  • Pediatrics, Other  • Granulomas  • Sarcoidosis  • Dermatologic Disorders, Other  • Alert me on articles by topic  Social Bookmarking   What's this?

An Early Sign of Blau Syndrome

Julie V. Schaffer, MD; Pranil Chandra, DO; Brian R. Keegan, MD, PhD; Patricia Heller, MD; Helen T. Shin, MD

Arch Dermatol. 2007;143(3):386-391.

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.

Author Affiliations: The Ronald O. Perelman Department of Dermatology (Drs Schaffer, Keegan, and Shin) and Departments of Pediatrics (Drs Schaffer and Shin) and Pathology (Drs Chandra and Heller), New York University School of Medicine, New York; and the Department of Pediatrics, Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, NJ (Dr Shin).

CiteULike    Connotea    Delicious    Digg    Facebook    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Hypomorphic Rag mutations can cause destructive midline granulomatous disease
De Ravin et al.
Blood 2010;116:1263-1271.
ABSTRACT | FULL TEXT