Gasparini G, Sarchi G, Cavicchini S, Bertagnolio B
Istituto di Clinica Dermatologica I e Dermatologia Pediatrica, University of Milan.
Clin Exp Dermatol. 1992 Jan;17(1):56-9. doi: 10.1111/j.1365-2230.1992.tb02537.x.
A case of angiokeratoma corporis diffusum (ACD) involving the skin of a 26-year-old patient with Turner's syndrome presenting with normal physical and mental development is reported. The unusual nature of this association confirms the theory that ACD presenting with skin lesions alone is a rare but specific clinical entity which differs from the hereditary sphingolipidoses like Fabry's disease.
报告了一例全身性血管角化瘤（ACD），患者为一名26岁患有特纳综合征的女性，其身体和智力发育正常，皮肤受累。这种关联的特殊性证实了以下理论：仅表现为皮肤病变的ACD是一种罕见但特定的临床实体，与诸如法布里病等遗传性鞘脂类疾病不同。
