Greenberg B M, Pess G M, May J W
Division of Plastic and Reconstructive Surgery, Massachusetts General Hospital, Boston.
J Hand Surg Am. 1987 Sep;12(5 Pt 1):730-3. doi: 10.1016/s0363-5023(87)80058-8.
Macrodactyly is an uncommon congenital anomaly that affects the fingers and toes. Speculation as to cause is focused on the association with connective tissue abnormalities, such as neurofibromatosis. We report a highly unusual case of a patient with epidermal nevus syndrome, a specific connective tissue and skeletal disease, who also exhibited bilateral, four finger macrodactyly. Potential causes of linkage between these two specific and unusual syndromes are discussed. Treatment of the epidermal nevus may be nonoperative, differing from the philosophy of aggressive treatment of the similarly appearing premalignant congenital hairy nevus.
巨指（趾）症是一种影响手指和脚趾的罕见先天性异常。关于其病因的推测主要集中在与结缔组织异常的关联上，比如神经纤维瘤病。我们报告了一例极为罕见的病例，患者患有表皮痣综合征（一种特定的结缔组织和骨骼疾病），同时还表现出双侧四指巨指（趾）症。本文讨论了这两种特定且罕见综合征之间存在关联的潜在原因。表皮痣的治疗可能无需手术，这与对外观相似的先天性恶性前毛痣采取积极治疗的理念不同。
