Pinho André Castro, Gouveia Miguel José Pinto, Gameiro Ana Rita Portelinha, Cardoso José Carlos Pereira Silva, Gonçalo Maria Margaria Martins
Dermatology Department of Centro Hospitalar e Universitário de Coimbra, Portugal.
J Dermatol Case Rep. 2015 Sep 30;9(3):67-70. doi: 10.3315/jdcr.2015.1208.
Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis.
Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband.
BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor".
布鲁克 - 施皮格勒综合征（BSS）可能是一种诊断不足的遗传性皮肤病，易引发主要位于头颈部的圆柱瘤、螺旋腺瘤和毛发上皮瘤。在一个家族中可观察到病变数量和类型存在广泛的表型变异。绝大多数病例中可鉴定出CYLD基因突变，其在BSS发病机制中起关键作用。
两名一级亲属头皮上有大量红斑性毛细血管扩张性结节，持续数十年，尽管此前多次切除仍有复发倾向。对病变进行组织病理学检查发现，先证者主要为“螺旋腺圆柱瘤”，其姐姐为圆柱瘤。在先证者中检测到新的CYLD基因种系无义突变（c.1783C>T，pGln 595*）后，BSS的怀疑得到证实。
BSS的诊断具有挑战性，基于临床 - 病理相关性、阳性家族关联以及CYLD突变的鉴定。CYLD通过下调细胞内NF - κB信号通路发挥抗肿瘤作用。报道的影响泛素特异性蛋白酶结构域的突变导致一种截短且无催化活性的酶。尽管CYLD突变的列表不断增加，但目前尚无明确的基因型 - 表型相关性。BSS的早期识别和治疗可避免出现如“头巾瘤”等毁容性变化。
