家族性巨大黑色素细胞增生症

作     者：El-Darouti M.A. Fawzi S.A. Marzook S.A. 罗素菊 

作者机构：Department of Dermatology Faculty of Medicine Cairo University 47 El-Falaki Street Bab El-Louk Cairo 11471 Egypt Dr 

出 版 物：《世界核心医学期刊文摘（皮肤病学分册）》 (Digest of the World Core Medical JOurnals:Dermatology)

年 卷 期：2006年第2卷第3期

页      面：58-59页

学科分类：1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100104[医学-病理学与病理生理学] 100214[医学-肿瘤学] 10[医学] 

主　　题：黑色素细胞 细胞增生症 家族性 巨大 角质形成细胞 活检标本 显微镜检查 苏木素伊红 罕见疾病 电镜检查 

摘      要：Background: Familial gigantic melanocytosis (FGM) is a rare disorder first described in 1984 and termed familial melanopathy with gigantic melanocytes. The cause of the disorder is still unknown. Melanocytes in both hyper- and hypopigmented skin seem to be unable to deliver melanin to the surrounding keratinocytes. Objective: In this study,we report four newcases of FGM. Electronmicroscopic examination was performed in a trial to shed more light on the underlying defect in this disorder. Patients and methods: Patients were examined clinically and biopsies were taken from both hyperpigmented and hypopigmented areas, and divided into two parts; one part was processed for routine microscopic examination with hematoxylin and eosin and Masson Fontana stains. The other portion of the biopsy was fixed in glutraldhyde 3% and processed for electron microscopic (EM) examination. Results: By light microscopy, the patients skin showed areas of hyperpigmented basal cells alternating with poorly pigmented areas. Hair follicles in the scalp biopsies showed the same pathology. By EM, pigmented areas showed gigantic melanocytes and heavily pigmented keratinocytes. Nonpigmented areas showed poorly pigmented keratinocytes and fewer, but also gigantic melanocytes. Conclusions: The raindrop-like hypopigmentation in this disorder can be explained by a failure of melanocytes to deliver melanin to their surrounding keratinocytes. The cause of the presence of heavily pigmented keratinocytes in the hyperpigmented zones could not be determined. There is a strong possibility of a more widespread abnormality affecting not just the melanocytes.