Abouzeid Bassel, Buck Amanda, Haikal Samantha, Elkattah Rayan
University of Illinois College of Medicine, Department of Obstetrics and Gynecology, Peoria, IL, USA.
Case Rep Womens Health. 2021 Dec 2;33:e00373. doi: 10.1016/j.crwh.2021.e00373. eCollection 2022 Jan.
Proteus syndrome is a genetic condition with an estimated incidence of less than one in a million. This condition is sporadic and presents as progressive, mosaic overgrowth of different tissues. Clinical manifestations are diverse, with the reported involvement of lungs, skin, blood cells, the nervous system and bones. Gynecologic manifestations have rarely been reported in the literature. This case is the first to be reported in the literature of a woman with Proteus syndrome diagnosed in her prepubertal years and presenting at 34 years old with a cervical mass protruding from the vagina. The patient sought medical intervention only after the prolapse was advanced and symptomatic. Management of this case was surgical and consisted of vaginal hysterectomy, with vaginal suspension.
变形综合征是一种遗传性疾病,估计发病率低于百万分之一。这种疾病是散发性的,表现为不同组织的进行性、镶嵌性过度生长。临床表现多样,据报道可累及肺、皮肤、血细胞、神经系统和骨骼。妇科表现很少见诸文献报道。该病例是文献中首例报道的在青春期前被诊断为变形综合征的女性,34岁时出现从阴道突出的宫颈肿物。患者直到脱垂严重且出现症状后才寻求医疗干预。该病例的治疗方式为手术,包括阴道子宫切除术及阴道悬吊术。