Department of Dermatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.
Department of Pathology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.
J Dermatol. 2018 Dec;45(12):1459-1462. doi: 10.1111/1346-8138.14672. Epub 2018 Oct 15.
Anetoderma is a rare cutaneous disorder characterized by focal loss of dermal elastic tissue, resulting in macular atrophy or herniated saclike skin. Some families with hereditary anetoderma have been described, but there have been no reports on Japanese familial anetoderma so far. We herein report two Japanese sibling cases of primary anetoderma. A healthy 13-year-old Japanese girl and a healthy 15-year-old Japanese girl presented to our hospital with a 6-month history of small atrophic pittings on their arms and trunks. All lesions were less than 0.5 cm in diameter, which are relatively small for non-familial anetoderma. Preceding infections or skin lesions were not observed. A skin biopsy revealed a focal, complete loss of elastic tissue in the superficial to mid-dermis which was surrounded by fine, irregular or twisted elastic fibers. Based on these findings, the diagnosis of anetoderma was made. Review of published works demonstrated that the mode of inheritance of familial anetoderma is not simple, suggesting that it is important to survey any family member of the patients with anetoderma.
萎缩性皮肤病是一种罕见的皮肤疾病，其特征是皮肤弹性组织局灶性丧失，导致皮肤出现黄斑萎缩或疝出的囊状皮肤。已有一些遗传性萎缩性皮肤病的家族被描述，但迄今为止，尚未有关于日本家族性萎缩性皮肤病的报道。我们在此报告两例日本同胞兄弟姐妹的原发性萎缩性皮肤病病例。一名健康的 13 岁日本女孩和一名健康的 15 岁日本女孩因手臂和躯干上出现 6 个月的小萎缩性凹陷就诊。所有病变的直径均小于 0.5cm，相对非家族性萎缩性皮肤病的病变较小。未观察到先前的感染或皮肤病变。皮肤活检显示真皮浅层至中层局灶性、完全性弹性组织丧失，周围有纤细、不规则或扭曲的弹性纤维。根据这些发现，做出了萎缩性皮肤病的诊断。对已发表文献的回顾表明，家族性萎缩性皮肤病的遗传方式并不简单，因此，对患有萎缩性皮肤病的患者的任何家庭成员进行调查很重要。
