Embryonal Rhabdomyosarcoma of the Uterine Cervix in a Patient With Xeroderma Pigmentosum: An Exceptional Association.

Cervical rhabdomyosarcoma (RMS) is an uncommon malignant tumor. Its presentation in patients with xeroderma pigmentosum (XP), a genetic condition with marked ultraviolet (UV) sensitivity and skin cancer risk, is very rare. We report the case of a teenage girl with XP diagnosed with embryonal rhabdomyosarcoma of the uterine cervix. A 17-year-old girl with a longstanding history of XP presented with pelvic pain, abnormal vaginal bleeding, dysuria, and constipation. Clinical examination revealed a 7 × 6 cm exophytic cervical mass. Histopathological analysis confirmed the diagnosis of embryonal rhabdomyosarcoma of the cervix. Management included neoadjuvant chemotherapy based on the IVA protocol (ifosfamide, vincristine, and actinomycin D), followed by total hysterectomy and bilateral pelvic lymphadenectomy. The patient is currently undergoing adjuvant chemotherapy, with no clinical or radiological evidence of recurrence. This exceptional association between XP and cervical embryonal rhabdomyosarcoma presents complex diagnostic and therapeutic challenges. It underscores the importance of multidisciplinary management and heightened vigilance for rare tumors in the context of XP. Further research is warranted to better understand the management of extracutaneous malignancies in patients with XP.