Akiyama M, Aranami A, Sasaki Y, Ebihara T, Sugiura M
Department of Dermatology, Shimizu City Hospital, Japan.
J Am Acad Dermatol. 1994 May;30(5 Pt 2):831-3. doi: 10.1016/s0190-9622(94)70090-7.
Two patients with familial linear and whorled nevoid hypermelanosis, a 33-year-old woman and her 3-month-old daughter, are described. These are the first cases of linear and whorled nevoid hypermelanosis of familial occurrence reported in the literature. Asymptomatic hyperpigmented macules in streaky configurations had appeared on the trunk and extremities of both patients several weeks after birth and then gradually spread. No previous inflammation or eruption was observed. Histologic examination revealed a slight increase in the number of melanocytes in the epidermis and an irregular basal melanosis. No pigmentary incontinence or melanophages were observed in the dermis. Ultrastructurally the only finding was an increase in the number of normal-appearing mature melanosomes in keratinocytes in the lesion. Chromosomal analysis of cultured peripheral blood lymphocytes and dermal fibroblasts from normal and pigmented skin revealed no evidence of mixoploidy or chimerism. An undescribed genetic abnormality is suggested as the cause.
本文描述了两名患有家族性线状和涡状痣样黑素沉着病的患者，一名33岁女性及其3个月大的女儿。这是文献中报道的首例家族性发生的线状和涡状痣样黑素沉着病病例。两名患者出生后数周，躯干和四肢出现无症状的条纹状色素沉着斑，随后逐渐蔓延。既往未观察到炎症或皮疹。组织学检查显示表皮黑素细胞数量略有增加，基底黑素沉着不规则。真皮中未观察到色素失禁或噬黑素细胞。超微结构上唯一的发现是病变处角质形成细胞中外观正常的成熟黑素小体数量增加。对正常皮肤和色素沉着皮肤的培养外周血淋巴细胞和真皮成纤维细胞进行染色体分析，未发现混合倍体或嵌合体的证据。提示存在一种未描述的基因异常作为病因。
