Department of Dermatology, Zhongshan Hospital Xiamen University, Xiamen, Fujian, China.
Australas J Dermatol. 2020 Nov;61(4):e399-e402. doi: 10.1111/ajd.13316. Epub 2020 Jun 1.
We reported a Chinese pedigree with scrotal Dowling-Degos disease and evaluated the phenotypic and genotypic characteristics. In affected cases, pigmented macules were identified on the scrotum. The rashes increased, and the colour deepened progressively. No pain or pruritus were noticed, and no other skin folds were involved. Skin histopathology showed characteristic features of Dowling-Degos disease. A heterozygous PSENEN frameshift variant c.292delC（p.L98Wfs*47） was identified in affected cases. The variant was not found in dbSNP, 1000 Genomes project database and the ExAC Browser. The p.L98 and adjacent amino acids are highly conserved among species. Our cases expand the phenotypic and genotypic spectrum of PSENEN-related Dowling-Degos disease.
我们报道了一个有阴囊 Dowling-Degos 病的中国家系，并评估了其表型和基因型特征。在受影响的病例中，阴囊上出现色素性斑点。皮疹逐渐增多，颜色加深。无疼痛或瘙痒，无其他皮肤褶皱受累。皮肤组织病理学显示 Dowling-Degos 病的特征性表现。在受影响的病例中发现了一个 PSENEN 框移变异 c.292delC（p.L98Wfs*47）杂合子。该变异未在 dbSNP、1000 基因组计划数据库和 ExAC 浏览器中发现。p.L98 和相邻的氨基酸在物种间高度保守。我们的病例扩大了 PSENEN 相关 Dowling-Degos 病的表型和基因型谱。
