节段性毛囊角化病一例

A case of segmental Darier's disease

25岁女性患者,右侧腋窝及肘窝丘疹伴瘙痒7年余。皮肤科查体见右腋下泛发棕色或红棕色、针尖至黄豆大小顶部平坦丘疹,质坚实;周围少量棕黄色扁平小丘疹。皮肤镜检可见红棕色背景下,中央淡黄色至棕色多边形或星状无结构区,边缘白色线状结构。皮损组织病理:表皮角化过度,棘层增生肥厚呈乳头瘤样,棘层松解,局灶性基底细胞层上裂隙形成,颗粒层及基底细胞层中可见角化不良细胞、圆体和谷粒,真皮浅层血管周围少量淋巴细胞浸润。皮损样本基因检测提示ATP2A2基因突变;血液样本则未检测到该位点突变。诊断:节段性毛囊角化病。治疗:0.1%维A酸乳膏局部外用,皮损逐渐消退,目前仍在随访中。

A 25-year-old female patient has prutitic lesionson the right side of her axilla and antecubital fossa more than 7 years.Dermatological examination was notable for the presence of brownish to redbrownish-red,flat-topped papules,which were in a segmentally distribution on the right side of her axilla and antecubital fossa.Dermoscopic examination,on the right side of axilla,showed a central polygonal irregular yellowish area with crusts surrounded by a whitish halo on a purplish background,while on the right side of axilla,showed several irregular to star-shaped brownish areas.Histopathologic examination taken from her axilla showed focal suprabasilar acantholysis accompanied by dyskeratotic keratinocytes both in the stratum spinosum and stratum corneum.Dyskeratotic cells in the stratum spinosum showed pyknotic nuclei and enlarged homogeneous eosinophilic cytoplasm,whereas basophilic elongated nuclei were observed in dyskeratotic cells of the stratum corneum,associated to corps ronds.Superficial inflammatory perivascular infiltration of lymphocytes were also noticed.Genetic testing of blood samples revealed a mutation in the ATP2A2 gene(-),and the gene detection of local skin lesions showed that ATP2A2 gene mutation(+).She was diagnosed as segmental keratosis follicularis,and was treated with 0.1%retinoic acid cream for topical application.The skin lesions were stable and gradually subsided.This patient is still being followed up.