遗传性泛发性色素异常症临床特点与病理分析

Dyschromatosis Universalis Hereditaria: Clinical Features,Pathological Analysis and Review of Literatures

目的:了解遗传性泛发性色素异常症的临床及病理特征。方法:分析在我院皮肤科门诊诊治的5例确诊为遗传性泛发性色素异常症患者的临床、组织病理特点。结果:皮损主要分布于躯干及四肢,表现为全身泛发性色素沉着与色素减退斑,色素沉着斑为大小不等的褐色斑疹,并间杂以类似大小的色素减退或色素脱失斑,皮疹表面无鳞屑、萎缩及毛细血管扩张。病理改变为色素沉着斑区基底层及棘层下部细胞内含有较多黑素颗粒,色素减退斑区黑素颗粒明显减少或缺如,而黑素细胞数量并未减少。患者中2例身材矮小,1例伴有耳聋、癫痫等症状。5例患者均未见头发、牙齿、指甲及粘膜损害。结论:遗传性泛发性色素异常症典型的临床特征是其诊断的要点。

Objective：To investigate the clinical and pathological features of dyschromatosis universalis hereditaria （DUI-I）. Methods：Analysis was conducted on the clinical and histopatho- logical features of 5 cases with dyschromatosis universalis hereditaria from the outpatient depart- ment in our hospital. Results：Physical examination showed generalized brown-colored hyperpigmented macules of varying sizes and shapes accompanied by hypopigmented macules of similar size mainly distributed on the trunk and the extremities. There were no scales, atrophy or telangiectasias on the surface of the lesions. Biopsy from the hyperpigmented lesions showed increasement of melanin granules in basal cells and suprabasal prickle cells, whereas in the hypopigmented lesions it showed decreasement or absence of melanin granules but not the quantity of melanocytes. Two cases presented with short stature, and another case suffered from high-frequency deafness and epilepsy. None of the 5 patients showed lesions of hair, teeth, nails or mucosa. Conclusion： DUH is a rare genodermatosis, and the diagnosis of DUH is mainly based on typical clinical findings.