中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (11): 788-791.doi: 10.12144/zgmfskin202311788

• 论著 • 上一篇    下一篇

Dowling-Degos病伴非毛囊性炎性丘疹一家系研究

贾凤铭,王真真,于功奇,陈声利,吴梅,刘红   

  1. 山东第一医科大学附属皮肤病医院(山东省皮肤病医院) ，山东省皮肤病性病防治研究所，济南，250022
  • 出版日期:2023-11-15 发布日期:2023-10-27

Dowling-Degos disease with non-follicular inflammatory papules: a family study

JIA Fengming, WANG Zhenzhen, YU Gongqi, CHEN Shengli, WU Mei, LIU Hong   

  1. Shandong Provincial Hospital for Skin Diseases ＆ Shandong Provincial Institute of Dermatology and Venereology，Shandong First Medical University ＆ Shandong Academy of Medical Sciences，Jinan 250022，China
  • Online:2023-11-15 Published:2023-10-27

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摘要： 先证者,男，30岁。患者全身红色粟粒大小扁平丘疹12年，以腋下、脐周、上臂内侧为重，随年龄增加，皮损逐渐增多。皮疹伴轻微瘙痒，遇热出汗时瘙痒感加重。皮损组织病理示：表皮棘细胞层部分萎缩变薄，表皮突延长，见角囊肿结构，真皮浅层血管周围见少许单一核细胞。先证者家系中有5例相似表现的患者，其中男4例，女1例。5例患者均携带KRT5基因杂合突变(c.14C>A, p. Ser5*)。结合基因检测、临床及组织病理表现，诊断：家族性Dowling-Degos病。

关键词: Dowling-Degos病, 家系, 基因诊断

Abstract: The proband, a 30-year-old Chinese male presented with skin rashes for 12 years, especially on the armpit, periumbilical area and inner upper arm and which gradually increased. The rashes was accompanied by mild itching, which was aggravated by heat and sweating. Pathologic examination showed that the acanthocyte layer of the epidermis was partially shrunk, the epidermal process was extended, horn cyst structures were seen, and a few mononuclear cells were infiltrated around the blood vessels in the superficial dermis. A total of 5 cases in the family, including 4 males and 1 female, sufferred from similar symptoms. All 5 patients carried the nonsense heterozygotic mutation of KRT5 gene (c.14C>A; p. Ser5*). The diagnosis of Dowling-Degos disease was made according to the genetic testing, clinical and histopathological findings.

Key words: Dowling-Degos disease, family, genetic diagnosis