Zaraa Inès, Zeglaoui Faten, Fazaa Bacima, Ezzine Nadia, Elfekih Nadia, Zermani Rachida, Ben Jilani Sara, Kamoun Mohamed Ridha
Service de dermatologie,Hôpital Charles, Nicolle Tunis, Tunisie.
Tunis Med. 2006 Sep;84(9):578-80.
Brooke Spiegler syndrome is a rare genodermatosis characterized by an association of multiple trichoepitheliomas and cylindromas, sometimes accompanied by other adnexal tumors (spiradenoma, mila), we report two family cases of Brooke Spiegler syndrome. In the first case: a 31 years-old woman, with multiple trichoepitheliomas involving in the naso-genal areas, with multiple cylindromas of the scalp. The second case regarding the brother: 37 years-old, presented with multiple trichoepitheliomas of the face, associated with milia. No neoplastic tumor was identified. A co-existence of adnexal tumors was found in the other members of the family. Brooke Spiegler syndrome is an autosomial dominant disease with variable penetrance, it's characterized by a family history of trichoepitheliomas, with other adnexal tumors. The course of the disease is characterized by a multiplication of lesions, a malignant transformation was reported, but remains rare. Brooke Spiegler syndrome is usually a benign disease, but patients with this syndrome should be explored for malignancy. A family study is indicated.
布鲁克·施皮格勒综合征是一种罕见的遗传性皮肤病，其特征为多发性毛发上皮瘤和圆柱瘤相关联，有时还伴有其他附属器肿瘤（汗腺螺旋腺瘤、粟丘疹），我们报告两例布鲁克·施皮格勒综合征的家族病例。第一例：一名31岁女性，鼻面部有多处毛发上皮瘤，头皮有多个圆柱瘤。第二例是其弟弟：37岁，面部有多处毛发上皮瘤，伴有粟丘疹。未发现肿瘤性肿物。在该家族的其他成员中也发现了附属器肿瘤并存的情况。布鲁克·施皮格勒综合征是一种常染色体显性疾病，具有可变的外显率，其特征是有毛发上皮瘤家族史，并伴有其他附属器肿瘤。该病病程以皮损增多为特点，有报道称会发生恶性转化，但仍很罕见。布鲁克·施皮格勒综合征通常是一种良性疾病，但患有该综合征的患者应排查是否恶变。建议进行家族研究。
