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尼日利亚的白化病及一种新的隐性眼皮肤白化病类型的描述。

Albinism in Nigeria with delineation of new recessive oculocutaneous type.

作者信息

King R A, Creel D, Cervenka J, Okoro A N, Witkop C J

出版信息

Clin Genet. 1980 Apr;17(4):259-70. doi: 10.1111/j.1399-0004.1980.tb00145.x.

Abstract

Seventy-nine Nigerian oculocutaneous albinos were investigated. Fifty-six had typical tyrosinase-positive albinism (TPA) and 23 had brown albinism (BA), a new oculocutaneous type. The TPA were characterized by localized but no generalized skin pigment, yellow hair, blue to brown irides, nystagmus, and reduced or absent retinal pigment. Localized skin pigment included freckles and lentigines. The iris and skin pigment were the result of the slow accumulation of pigment with age as both were found in older individuals. The most severe skin changes were premalignant keratoses and squamous cell carcinoma of the skin, and the skin malignancies were the major factor in limiting the lifespan for TPA. The BA were characterized by generalized light brown skin pigment, light brown hair, blue to brown irides, nystagmus, and reduced retinal pigment. There was little accumulation or change of pigment in the eyes or skin with age. The generalized light skin pigment was effective in reducing sensitivity to solar radiation and very few BA had premalignant keratoses. Pedigree analysis for BA suggested on autosomal recessive inheritance pattern.

摘要

对79名尼日利亚眼皮肤白化病患者进行了调查。56人患有典型的酪氨酸酶阳性白化病(TPA),23人患有棕色白化病(BA),这是一种新的眼皮肤白化病类型。TPA的特征是皮肤色素局部存在但无全身色素沉着、黄发、蓝至棕色虹膜、眼球震颤以及视网膜色素减少或缺失。局部皮肤色素包括雀斑和雀斑样痣。虹膜和皮肤色素是随着年龄增长色素缓慢积累的结果,因为在年长个体中均有发现。最严重的皮肤变化是皮肤的癌前角化病和鳞状细胞癌,皮肤恶性肿瘤是限制TPA寿命的主要因素。BA的特征是全身浅棕色皮肤色素沉着、浅棕色头发、蓝至棕色虹膜、眼球震颤以及视网膜色素减少。随着年龄增长,眼睛或皮肤中的色素几乎没有积累或变化。全身浅肤色色素沉着有效地降低了对太阳辐射的敏感性,很少有BA患者患有癌前角化病。对BA的系谱分析表明其遗传模式为常染色体隐性遗传。

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