Völter Christiane, Baier G, Schwager K, Müller J G, Rose C
Klinik und Poliklinik für Hals-, Nasen- und Ohrenkranke der Universität Würzburg, Germany.
Laryngorhinootologie. 2002 Mar;81(3):243-6. doi: 10.1055/s-2002-25034.
Cutaneous cylindromas are benign adnexal tumors that may occur as a solitary lesion or in a multiple familiar pattern. Malignant change is rare. The association of multiple trichoepitheliomas and cylindromas, the so called Brooke-Spiegler Syndrome, is supposed to be inherited in an autosomal dominant manner.
A 55 year old woman presented with multiple skin tumors on the scalp, as well as the nasolabial and periauricular area since the age of 20 years. Her daughter and her nephew were also affected. Tumors were surgically removed for cosmetic reasons and showed histological signs of benign cylindromas and trichoepitheliomas. 35 years after diagnosis patient presented with a large exulceration on the right occipital area with intracranial invasion. Staging revealed multiple metastases in both lungs. Patient died 1 month later.
Histological examination showed beside zones of massive necrosis multiple mitosis. The jigsaw puzzle pattern and the thick PAS positive basal layer, the striking characteristics of benign cylindromas, were lost. These histological findings and the clinical presentation led to the diagnosis of cylindrocarcinoma.
Cylindrocarcinoma is an aggressive tumor with tendency to a local destructive growth and metastases. As malignant transformation of a benign cylindroma occurs more often in the multiple form a close follow-up of patients with multiple cylindromas is necessary. A family study is indicated.
皮肤圆柱瘤是一种良性附属器肿瘤，可表现为单发或多发的家族性模式。恶性变罕见。多发性毛发上皮瘤和圆柱瘤的关联，即所谓的布鲁克-施皮格勒综合征，被认为是以常染色体显性方式遗传。
一名55岁女性自20岁起头皮、鼻唇沟及耳周区域出现多发性皮肤肿瘤。她的女儿和侄子也受影响。出于美容原因手术切除肿瘤，组织学显示为良性圆柱瘤和毛发上皮瘤。诊断35年后，患者右枕部出现巨大溃疡并侵犯颅内。分期显示双肺多发转移。患者1个月后死亡。
组织学检查显示除大片坏死区域外还有多个有丝分裂象。良性圆柱瘤显著的拼图样结构和厚的PAS阳性基底层消失。这些组织学表现和临床表现导致诊断为圆柱癌。
圆柱癌是一种侵袭性肿瘤，有局部破坏性生长和转移倾向。由于良性圆柱瘤的恶性变在多发形式中更常见，对多发性圆柱瘤患者进行密切随访很有必要，并需进行家族研究。
