Stoevesandt Johanna, Morbach Henner, Martin Tammy M, Zierhut Manfred, Girschick Hermann, Hamm Henning
Department of Dermatology, University Clinics of Würzburg, Würzburg, Germany.
Pediatr Dermatol. 2010 Jan-Feb;27(1):69-73. doi: 10.1111/j.1525-1470.2009.01060.x.
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.
布劳综合征是一种常染色体显性遗传的慢性自身炎症性疾病，其临床特征为肉芽肿性皮炎、对称性关节炎和复发性葡萄膜炎三联征，发病年龄在4岁以下。它由核苷酸结合寡聚化结构域2（NOD2）基因的激活突变引起，该基因以前被称为CARD15基因。受累组织中的非干酪样肉芽肿是该病的病理标志。我们报告了一名患有散发性布劳综合征的14岁白人男孩的终生严重病程。不同寻常的是，肉芽肿性皮炎在出生后第一周就开始了。虽然皮肤受累在随后几年中自行消退，但多关节炎和前葡萄膜炎分别在出生后第二年和第三年出现。对NOD2基因的突变分析发现了一个错义突变（R334W），该突变先前在其他布劳综合征家系中也有发现。通过本报告，我们想强调婴儿期广泛丘疹性皮疹中出现布劳综合征的罕见可能性，以及组织病理学研究对于明确诊断的重要性。早发性广泛肉芽肿性皮炎的发现应促使定期进行眼部和关节检查，并对NOD2基因进行突变分析。
