Conjunctival leiomyosarcoma in a patient with xeroderma pigmentosum: 5-year follow-up without recurrence

ABSTRACT Conjunctival leiomyosarcoma is a very rare soft tissue malignancy. Herein, we describe a conjunctival leiomyosarcoma case in a patient with another rare disease, xeroderma pigmentosum. The 27-year-old single-eyed xeroderma pigmentosum patient complained of exophytic mass covering the ocular surface in her left eye. A vascular, hemorrhagic mass covering the entire ocular surface of the left eye was identified on the examination. Thus, total mass excision surgery was performed. The pathological diagnosis was compatible with conjunctival leiomyosarcoma. Additional chemotherapy, radiotherapy, or surgery were not accepted by the patient. No recurrence or metastasis was observed during the 5-year follow-up. Both primary conjunctival leiomyosarcoma and xeroderma pigmentosum are very rare diseases. Conjunctival masses in xeroderma pigmentosum patients should be approached carefully, and histopathological examination is warranted. For conjunctival leiomyosarcoma, early diagnosis, localized, unspread disease, and complete resection provide the best prognosis.

摘要：结膜平滑肌肉瘤是一类极为罕见的软组织恶性肿瘤。本文报告1例合并另一种罕见疾病——着色性干皮病（xeroderma pigmentosum）的结膜平滑肌肉瘤病例。该患者为27岁单眼受累的着色性干皮病患者，主诉左眼眼表被外生性肿物覆盖。临床检查发现其左眼全眼表被一处血管丰富且伴出血的肿物所覆盖，遂行肿物完全切除术。术后病理诊断符合结膜平滑肌肉瘤。患者拒绝接受辅助化疗、放疗或额外手术治疗。经5年随访，未观察到肿瘤复发或转移情况。原发性结膜平滑肌肉瘤与着色性干皮病均为罕见疾病。对于着色性干皮病患者的结膜肿物，应谨慎处置，且需开展组织病理学检查。针对结膜平滑肌肉瘤，早期诊断、病变局限未发生播散以及完整切除，可获得最佳预后。