Bechelli L M, Gonçalves R P, Tanaka A M, Pagnano P M
Ann Dermatol Venereol. 1978 Feb;105(2):165-73.
The authors have studied skin color modifications in 3 cases of phenylketonuria and have observed the characteristic changes; fair skin and fair hair. In addition they noted hundred of pigmented pin point or slightly larger patches in the two more affected patients, in the areas exposed to sunshine. With regard to the ultrastructural study of the epidermis basal layer, the proportion of melanocytes in the two most severe cases was slightly higher than in the normal skin of 6 control subjects. Langerhans cells could not be acertained. The more severe was the disease the greater was the tendency for a lower proportion of keratinocytes containing melanin. There is a certain parallelism between the skin color modifications the biochemical examinations (blood level of phenylalanin and tyrosine) and the ultrastructural changes. The higher the blood level of phenlalanine and/or the more pronounced the disorders of skin color, the more evident would be the ultrastructural changes: higher proportion of melanocytes that usually do not produce the melanosomes, and lower percentage of keratinocytes with melanin. On the other hand, the ultrastructure of the basal layer would suggest the seriousness of clinical manifestations and/or the intesity of the metabolic error.
作者对3例苯丙酮尿症患者的肤色变化进行了研究，观察到了其特征性变化：皮肤白皙、头发金黄。此外，他们还注意到，在另外两名病情较重的患者暴露于阳光下的部位，有数百个色素沉着的针尖状或稍大的斑点。关于表皮基底层的超微结构研究，两名病情最严重的患者的黑素细胞比例略高于6名对照受试者的正常皮肤。无法确定朗格汉斯细胞。病情越严重，含黑色素的角质形成细胞比例越低的趋势就越明显。肤色变化、生化检查（血液中苯丙氨酸和酪氨酸水平）和超微结构变化之间存在一定的平行关系。血液中苯丙氨酸水平越高和/或肤色紊乱越明显，超微结构变化就越明显：通常不产生黑素小体的黑素细胞比例越高，含黑色素的角质形成细胞百分比越低。另一方面，基底层的超微结构可以提示临床表现的严重程度和/或代谢错误的严重程度。
