Matsumoto Andrew, Gregory Neal, Rady Peter L, Tyring Stephen K, Carlson John A
*Divisions of Dermatopathology and Dermatology, Department of Pathology, Albany Medical College, Albany, NY; †Division of Dermatology, Upper Hudson Valley Dermatology, Castleton, NY; and ‡Departments of Dermatology, Microbiology/Medical Genetics, and Internal Medicine, University of Texas Health Science Center, Houston, TX.
Am J Dermatopathol. 2017 May;39(5):370-373. doi: 10.1097/DAD.0000000000000693.
The co-existence of Darier disease (DD) and acrokeratosis verruciformis of Hopf (AKV) has been noted for decades and the relationship between the 2 entities remains controversial. Although, it has been shown that both diseases are associated with mutations in ATPA2 gene, it is yet to be determined if they are the same disease, or separate but allelic, or interlinked in some other fashion. Herein, the authors report the case of a 13-year-old girl presenting with shiny flat-topped verruca plana-like papules, on the dorsal hands and feet and red-brown crusted papules on her forehead and along the sides of her neck. Histological evaluation of a wart-like lesion shows features of AKV, a verruca plana-like histopathology and focal acantholytic dyskeratosis. Forehead biopsy also demonstrated focal acantholytic dyskeratosis supporting the diagnosis of DD. Polymerase chain reaction for human papillomavirus (HPV) DNA detected HPV-17, a human betapapillomavirus in the verruca plana-like papule. Cytoplasmic expression of the L1 capsid expression was seen in areas of hypergranulosis. The presence of productive betaPV infection in the setting of DD and AKV suggests a susceptibility to HPV infection.
Darier病（DD）与霍普夫疣状肢端角化病（AKV）的共存已被关注数十年，这两种疾病之间的关系仍存在争议。尽管已表明这两种疾病均与ATPA2基因突变有关，但它们是同一种疾病、还是单独但等位基因相关的疾病，抑或以其他某种方式相互关联，仍有待确定。在此，作者报告了一例13岁女孩的病例，该女孩双手和双足背出现光泽性扁平状扁平疣样丘疹，前额和颈部两侧出现红棕色结痂丘疹。对一个疣状病变进行组织学评估显示有AKV的特征、扁平疣样组织病理学表现和局灶性棘层松解性角化不良。前额活检也显示局灶性棘层松解性角化不良，支持DD的诊断。针对人乳头瘤病毒（HPV）DNA的聚合酶链反应检测到HPV-17，这是一种在扁平疣样丘疹中的人β乳头瘤病毒。在颗粒层增厚区域可见L1衣壳蛋白的细胞质表达。在DD和AKV背景下存在有活性的βPV感染提示对HPV感染易感。
