Barax C N, Lebwohl M, Phelps R G
J Am Acad Dermatol. 1987 Aug;17(2 Pt 2):342-6. doi: 10.1016/s0190-9622(87)70209-6.
Multiple hamartoma syndrome, also known as Cowden's disease, is a rare genodermatosis with multiple organ system involvement affecting tissues derived from ectodermal, endodermal, and mesodermal tissue layers. We describe two previously unreported cases of multiple hamartoma syndrome in a father and daughter. Both show classic features of multiple hamartoma syndrome, as well as other mucocutaneous findings. The father has been shown to have substantial cutaneous deposits of amyloid in the absence of underlying plasma cell dyscrasia or malignancy. Both individuals have undergone excision of a unique fibroma that has features that have been reported only in multiple hamartoma syndrome and should be added to the criteria used to define the entity.
多发性错构瘤综合征，又称考登病，是一种罕见的遗传性皮肤病，累及多个器官系统，影响源自外胚层、内胚层和中胚层组织层的组织。我们描述了此前未报告的一对父女患多发性错构瘤综合征的病例。两人均表现出多发性错构瘤综合征的典型特征以及其他皮肤黏膜表现。已证实父亲在无潜在浆细胞发育异常或恶性肿瘤的情况下有大量皮肤淀粉样蛋白沉积。两人均已切除一种独特的纤维瘤，该纤维瘤具有仅在多发性错构瘤综合征中报道过的特征，应添加到用于定义该疾病的标准中。
