Sporadic blau syndrome with onset of widespread granulomatous dermatitis in the newborn period

Johanna Stoevesandt, Henner Morbach, Tammy M. Martin, Manfred Zierhut, Hermann Girschick, Henning Hamm

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Blau syndrome is a dominantly inherited, chronic autoinflammatory disorder characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis with onset below 4 years of age. It is caused by activating mutations in the nucleotide-binding oligomerization domain 2 (NOD2) gene, previously referred to as CARD15 gene. Noncaseating granulomas in affected tissues are the pathologic hallmark of the condition. We report the lifelong severe disease course in a 14-year-old Caucasian boy with sporadic Blau syndrome. Unusually, granulomatous dermatitis started in the first week of life. Whereas skin involvement faded away spontaneously in subsequent years, polyarthritis and anterior uveitis appeared in the second and third year of life respectively. Mutational analysis of the NOD2 gene revealed a missense mutation (R334W) previously detected in other Blau syndrome pedigrees. With this report, we would like to stress the rare possibility of Blau syndrome in generalized papular rashes of infancy and the importance of histopathologic study for clarification. The finding of early-onset widespread granulomatous dermatitis should prompt eye and joint examination in regular intervals and entail mutational analysis of the NOD2 gene.

Original languageEnglish (US)
Pages (from-to)69-73
Number of pages5
JournalPediatric dermatology
Volume27
Issue number1
DOIs
StatePublished - Jan 1 2010

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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