Feng Jessica, LaChance Avery, Sinclair David A, Asgari Maryam M
University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
BMJ Case Rep. 2019 Mar 8;12(3):e227233. doi: 10.1136/bcr-2018-227233.
A man in his early 60s with myotonic dystrophy type 1 (DM1) and an extensive history of non-melanoma skin cancer presented with multiple pearly, erythematous papules on his face, head, trunk and extremities, clinically consistent with basal cell carcinoma (BCC). Due to the numerous BCC and history of multiple and early-onset BCC, examination was concerning for a hereditary BCC syndrome. Subsequent histopathology confirmed BCC. Genetic testing was negative for basal cell nevus syndrome and clinical findings were inconsistent with other known hereditary BCC syndromes. There have been reports of an association between DM1 and BCC, however, it is not well known among clinicians. We hope to raise awareness among clinicians about this association.
一名60岁出头的男性，患有1型强直性肌营养不良（DM1），并有广泛的非黑色素瘤皮肤癌病史，其面部、头部、躯干和四肢出现多个珍珠样、红斑性丘疹，临床诊断与基底细胞癌（BCC）相符。由于存在大量基底细胞癌以及多发和早发性基底细胞癌病史，检查结果提示可能为遗传性基底细胞癌综合征。随后的组织病理学检查确诊为基底细胞癌。基底细胞痣综合征的基因检测结果为阴性，临床症状也不符合其他已知的遗传性基底细胞癌综合征。虽然有报告称DM1与基底细胞癌之间存在关联，但临床医生对此并不十分了解。我们希望提高临床医生对这种关联的认识。
