title: Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period.
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.
authors.affiliation: Department of Dermatology, University Clinics of Würzburg, Würzburg, Germany. Stoevesandt_J@klinik.uni-wuerzburg.de
authors.forename: Johanna
authors.initials: J
authors.lastname: Stoevesandt
authors.forename: Henner
authors.initials: H
authors.lastname: Morbach
authors.forename: Tammy M
authors.initials: TM
authors.lastname: Martin
authors.forename: Manfred
authors.initials: M
authors.lastname: Zierhut
authors.forename: Hermann
authors.initials: H
authors.lastname: Girschick
authors.forename: Henning
authors.initials: H
authors.lastname: Hamm
mesh_terms: D000293:Adolescent; D001168:Arthritis / Q000235:genetics / Q000473:pathology*; D003872:Dermatitis / Q000235:genetics / Q000473:pathology*; D006099:Granuloma / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology*; D013577:Syndrome; D014605:Uveitis / Q000235:genetics / Q000473:pathology*
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein