Allen B S, Fitch M H, Smith J G
J Am Acad Dermatol. 1980 Apr;2(4):303-8.
Multiple hamartoma syndrome is a genodermatosis with autosomal-dominant inheritance. Characteristic findings include mucocutaneous verrucoid papules, "cobblestoning" of the tongue, and hamartomas of multiple organ systems. Also reported are frequent malignancies, especially of the breast. Herein we report a case of a 42-year-old black woman with typical findings of multiple hamartoma syndrome, including an occult malignancy of the uterine cervix, an as yet unreported site of carcinoma in this syndrome. Additionally, we detail a previously unreported finding of bilateral angioid streaks of the optic fundi. Photographs displaying many of the typical features of multiple hamartoma syndrome and associated histopathology are included, along with a brief review of the literature.
多发性错构瘤综合征是一种常染色体显性遗传的遗传性皮肤病。特征性表现包括皮肤黏膜疣状丘疹、舌部“鹅卵石样改变”以及多器官系统错构瘤。也有报道称该综合征常伴发恶性肿瘤，尤其是乳腺癌。在此，我们报告一例42岁黑人女性，具有多发性错构瘤综合征的典型表现，包括隐匿性子宫颈恶性肿瘤，这是该综合征中尚未有报道的癌发生部位。此外，我们详细描述了一项此前未被报道的双侧眼底血管样条纹的发现。文中包括展示多发性错构瘤综合征许多典型特征及相关组织病理学的照片，以及对文献的简要综述。
