中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (9): 642-646.doi: 10.12144/zgmfskin202609642

• 临床研究 • 上一篇    下一篇

丘疹性弹力纤维溶解症一家系报道并文献复习

诸允露,葛宏松   

  1. 安徽省儿童医院皮肤科,安徽合肥,230051
  • 出版日期:2026-09-15 发布日期:2026-09-02

Papular elastorrhexis: family case report and literature review

ZHU Yunlu, GE Hongsong   

  1. Department of Dermatology, Anhui Provincial Children's Hospital, Hefei 230051, China
  • Online:2026-09-15 Published:2026-09-02

摘要: 家族性儿童丘疹性弹力纤维溶解症(papular elastorrhexis,PE)罕见,本文报道一家系并复习相关文献。先证者为11岁女童,躯干、上肢多发无症状白色丘疹1年,其8岁妹妹前胸见2枚类似皮损,两患儿确诊后随访6个月,皮损无进展,未予特殊治疗。多数据库检索建库至2025年10月中英文文献,初检获得文献58篇,最终纳入15篇,共报道41例患者,其中3例行皮肤镜检查,27例完善组织病理及VVG弹性纤维特殊染色。皮损以躯干、上肢多发肤色或淡白色小丘疹为特点,无自觉症状。皮损皮肤镜特征为中央黄白色无结构区,周边伴放射状色素沉着,无异常血管;组织病理示表皮基本正常,真皮浅层少量血管周围淋巴细胞浸润,VVG染色见真皮弹性纤维断裂、数目减少或缺如。临床表型缺乏特异性,组织病理是确诊金标准,特征性皮肤镜表现可作为无创辅助诊断手段,有助于提高临床诊断效率。

关键词: 丘疹性弹力纤维溶解症, 家族性, 儿童, 皮肤镜, 弹性纤维

Abstract: Familial juvenile papular elastorrhexis (PE) is a rare disease. This paper reports one affected family and reviews relevant literature: the proband was an 11-year-old girl with multiple asymptomatic white papules on the trunk and upper extremities for one year, and her 8-year-old younger sister presented with two similar lesions on the anterior chest, both children were followed up for 6 months after confirmed diagnosis, with no lesion progression and no specific treatment given. We searched Chinese and English literature from database establishment to October 2025 across multiple databases, initially retrieving 58 articles and finally including 15 pepers involving 41 patients, among whom 3 received dermoscopy and 27 underwent histopathological examination combined with special VVG elastic fiber staining. The lesions are characterized by multiple skin-colored or pale white small papules predominantly on the trunk and upper extremities without subjective symptoms; dermoscopy shows central yellow-white structureless areas surrounded by radial pigmentation and no abnormal vessels, while histopathology reveals basically normal epidermis and mild perivascular lymphocytic infiltration in the superficial dermis, and VVG staining indicates fragmentation, reduction or absence of dermal elastic fibers. Given the non-specific clinical manifestations, histopathology is the gold standard for definite diagnosis, and the characteristic dermoscopic findings can act as a non-invasive auxiliary diagnostic tool to improve clinical diagnostic efficiency.

Key words: papular elastorrhexis, familial, child, dermoscopy, elastic fibers