Huang Shuqi, Alhadidi Moath Abbas Abdalla, Feng Nanfei, Wan Chuan
Department of Dermatology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People's Republic of China.
Clin Cosmet Investig Dermatol. 2024 Dec 4;17:2773-2776. doi: 10.2147/CCID.S498588. eCollection 2024.
Papular acantholytic dyskeratosis (PAD), often found to occur in the vulvar or anogenital area, is an exceedingly rare skin condition that usually presents in adulthood and features multiple smooth skin-colored or grayish-white papules with or without pruritus. Although the pathogenesis of PAD is unknown, PAD may be associated with mutations in ATP2C1 and ATP2A2 genes. Here, we report on an 18-year-old female patient with multiple gray-white flat papules in the anogenital area. Skin biopsy revealed hyperkeratosis of the epidermis, acantholysis, formation of fissures or lacunae, and disappearance of desmosomes. Whole exon sequencing (WES) of the patient indicated mutations in the ATP2C1 gene.
丘疹性棘层松解性角化不良（PAD）常发生于外阴或肛门生殖器区域，是一种极为罕见的皮肤疾病，通常在成年期出现，其特征为多个光滑的肤色或灰白色丘疹，伴或不伴有瘙痒。尽管PAD的发病机制尚不清楚，但它可能与ATP2C1和ATP2A2基因的突变有关。在此，我们报告一名18岁女性患者，其肛门生殖器区域有多个灰白色扁平丘疹。皮肤活检显示表皮角化过度、棘层松解、裂隙或腔隙形成以及桥粒消失。对该患者进行的全外显子测序（WES）表明ATP2C1基因存在突变。
