汗孔角化病2例及文献复习

Porokeratosis:two cases and literature review

报告2例汗孔角化病。例1.患者女,57岁,面部、颈部及四肢斑块渐增多30年。皮肤科检查:面部、颈部及四肢等暴光部位可见圆形、花环状或不规则的角化过度斑,边缘隆起,中央轻度凹陷、萎缩。诊断:播散性浅表性光线性汗孔角化病。例2.患者男,45岁,全身散在斑块20年余。皮肤科检查:全身散在棕褐色角化性斑块,部分边缘隆起,纤细如线,离心性扩大,中央色素沉着。诊断:播散性浅表性汗孔角化病。2例皮损组织病理检查均可见角化不全柱斜插入凹陷的表皮内。全外显子测序发现相关突变,例1为MVK c.1126G>A,例2为ATP2C1 c.899+4A>T。

Two cases of porokeratosis are reported.Case 1 was a 57-year-old female presenting with plaques in the face,neck and limbs that had gradually developed for 30 years.Physical examination revealed round,flower rings or irregular excessive keratinization plaques on the face,neck,limbs and other sun exposed areas,with clearly raised edge and mild shrinkage in the central plaque.Disseminated superficial actinic porokeratosis was diagnosed based on the above considerations.Case 2 was a 45-year-old male presenting with scattered patches for over 20 years.Physical examination revealed scattered brown keratinized patches,some with line-like edges,central centrifugal enlargement and central pigmentation.Diagnosis of dissemi-nated superficial porokeratosis was made.Histopathological examination of skin lesions in both two cases showed that the ker-atinized incomplete column was obliquely inserted into the sunken epidermis.Whole exome sequencing found mutation MVK c.1126G>A in case 1 and ATP2C1 c.899+4A>T in case 2.