Kang W H, Chun S I, Lee S
Department of Dermatology, Yonsei University Wonju College of Medicine, Korea.
J Am Acad Dermatol. 1987 Nov;17(5 Pt 2):883-7. doi: 10.1016/s0190-9622(87)70274-6.
A 28-year-old Korean man suffered from generalized acquired anhidrosis and heat intolerance that were confirmed by a sweat test. Other clinical features consistent with Fabry's disease were fever and severe pain of the lower extremities and leg edema. Although the patients lacked cutaneous angiokeratomas, ultrastructural studies of the normal skin demonstrated diagnostic intracytoplasmic inclusions in the endothelial cells and pericytes of dermal vessels, fibroblasts, perineural cells, and secretory cells of eccrine glands. alpha-Galactosidase assay of the patient's leukocytes showed markedly decreased activity, which confirms the diagnosis.
一名28岁的韩国男性患有全身性后天性无汗症和不耐热，经汗液测试证实。其他与法布里病相符的临床特征包括发热、下肢剧痛和腿部水肿。尽管该患者没有皮肤血管角质瘤，但对正常皮肤的超微结构研究显示，真皮血管的内皮细胞和周细胞、成纤维细胞、神经周细胞以及汗腺分泌细胞中有诊断性的胞质内包涵体。对患者白细胞进行的α-半乳糖苷酶检测显示活性明显降低，这证实了诊断。
