Department of Dermatology, University of Heidelberg, Germany.
J Dtsch Dermatol Ges. 2010 Feb;8(2):99-101. doi: 10.1111/j.1610-0387.2009.07156_supp.x.
Brooke-Spiegler syndrome is a rare, autosomal dominant disease characterized by multiple skin appendage tumors caused by various mutations in the CYLD gene on chromosome 16q12-q13. We describe a family, in which we performed a molecular-genetic examination and found a new mutation in exon 19 in the CYLD gene leading to a frameshift. It is important to be aware of this syndrome and its pathogenesis as its phenotypic features can vary so that apparently different diseases are caused by the same genetic defect. In addition, there may be malignant transformation of the generally benign tumors, so that a timely diagnosis is essential for appropriate monitoring and therapy.
布鲁克-斯皮格勒综合征是一种罕见的常染色体显性遗传病，其特征是由 16q12-q13 染色体上 CYLD 基因突变引起的多种皮肤附属器肿瘤。我们描述了一个家系，对其进行了分子遗传学检查，发现 CYLD 基因外显子 19 中的一个新突变导致移码。了解这种综合征及其发病机制非常重要，因为其表型特征可能存在差异，从而导致看似不同的疾病由相同的遗传缺陷引起。此外，通常良性的肿瘤也可能发生恶性转化，因此及时诊断对于进行适当的监测和治疗至关重要。
