Chung Amanda T, Taguibao Jerson N, Siripunvarapon Arunee H, Frez Ma Lorna F
Department of Dermatology, Philippine General Hospital, University of the Philippines Manila.
Acta Med Philipp. 2024 Sep 30;58(17):100-105. doi: 10.47895/amp.v58i17.9208. eCollection 2024.
Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by sensitivity to sunlight and predisposition to cutaneous malignancies. There are various types, including the Variant type, which does not manifest with acute sunburn reactions. This results to the development of multiple malignancies that are often discovered at late stages, making management more challenging. This is a case of a 54-year-old Filipino female presenting with multiple basal cell carcinomas (BCCs) on several areas of the face and advanced cutaneous squamous cell carcinoma (cSCC) on the right zygomatic area, treated with imiquimod 5% cream and external beam radiation therapy, respectively. There was an excellent response of the BCCs to imiquimod 5% cream and good tumoral response of the SCC to radiation therapy, with tolerable side effects, highlighting the use of these palliative treatment modalities for XP patients with multiple, unresectable, or difficult-to-treat cutaneous malignancies.
着色性干皮病(XP)是一种罕见的DNA修复障碍疾病,其特征为对阳光敏感且易患皮肤恶性肿瘤。它有多种类型,包括变异型,该型不会出现急性晒伤反应。这会导致多种恶性肿瘤的发生,且这些肿瘤常在晚期才被发现,使得治疗更具挑战性。这是一例54岁的菲律宾女性患者,面部多个部位出现多发性基底细胞癌(BCC),右侧颧部出现晚期皮肤鳞状细胞癌(cSCC),分别采用5%咪喹莫特乳膏和外照射放疗进行治疗。BCC对5%咪喹莫特乳膏反应良好,SCC对放疗的肿瘤反应良好,且副作用可耐受,这突出了这些姑息治疗方式在患有多发性、不可切除或难以治疗的皮肤恶性肿瘤的XP患者中的应用。