Saunders Helen, Tucker Paul, Saurine Tricia, Watkins Frances
Department of Medicine (Dermatology), Royal Hobart Hospital, Tasmania, Australia.
Australas J Dermatol. 2003 May;44(2):144-8. doi: 10.1046/j.1440-0960.2003.00663.x.
A pedigree of autosomal dominant expression of multiple benign adnexal tumours is presented. Seven cases spanning three generations are discussed. The clinical manifestations of these tumours are quite variable, including multiple papules concentrated on the face, scalp nodules and a large turban tumour. One member of the family had a linear papular eruption involving one half of his body. Histopathology of all lesions demonstrated benign adnexal characteristics, including well-characterized eccrine spiradenomas, trichoepitheliomas and an eccrine cylindroma. The cutaneous tumours occurring in these patients have continued to develop during their lifetimes. The authors propose that this pedigree has phenotypic characteristics consistent with Brooke-Spiegler syndrome.
本文展示了一个多发性良性附件肿瘤常染色体显性遗传的家系。讨论了三代人中的7个病例。这些肿瘤的临床表现差异很大，包括集中在面部的多个丘疹、头皮结节和一个巨大的头巾状肿瘤。该家族的一名成员有一条累及身体一侧的线状丘疹疹。所有病变的组织病理学均显示出良性附件特征，包括特征明确的小汗腺螺旋腺瘤、毛发上皮瘤和小汗腺圆柱瘤。这些患者身上出现的皮肤肿瘤在其一生中持续发展。作者认为这个家系具有与布鲁克-施皮格勒综合征一致的表型特征。
