Malik Kunal, Patel Parth, Chen Jin, Khachemoune Amor
Department of Dermatology, SUNY Downstate Medical Center, Brooklyn, NY, USA.
Am J Clin Dermatol. 2015 Feb;16(1):35-46. doi: 10.1007/s40257-015-0112-1.
Cutaneous leiomyomas (CLs) are rare, sporadic, or inherited tumors of smooth muscle origin associated with various disorders. Hereditary leiomyomatosis and renal cell cancer (HLRCC) is the primary tumor predisposition syndrome associated with inherited CLs, affecting 180 families worldwide, with significant mortality. CLs are subdivided into piloleiomyomas, genital leiomyomas, and angioleiomyomas based on their smooth muscle of origin, as well as their clinicopathologic features. Piloleiomyomas, derived from arrector pili muscle, are solitary or multiple firm papulonodules located typically on the extremities and trunk; genital leiomyomas, derived from dartoic, vulvar, or mammary smooth muscle, are solitary papulonodules or pedunculated papules located on the scrotum, vulva, or nipple; and angioleiomyomas, which include solid, cavernous, or venous subtypes, are derived from the tunica media of small arteries and veins and typically present on the extremities. Partial/excisional biopsy is required for diagnosing all CLs. Histology shows interlacing fascicles of spindle cells with moderate amounts of eosinophilic cytoplasm and a blunt-ended, elongated nucleus with perinuclear halos. Surgical excision is curative for CLs, with other management options including medical or destructive therapy; active surveillance is advised to monitor HLRCC-associated neoplasms, with pharmacological therapies under active research.
皮肤平滑肌瘤(CLs)是一种罕见的、散发性或遗传性的平滑肌起源肿瘤,与多种疾病相关。遗传性平滑肌瘤病和肾细胞癌(HLRCC)是与遗传性CLs相关的主要肿瘤易感性综合征,全球有180个家庭受其影响,死亡率较高。CLs根据其起源的平滑肌以及临床病理特征可分为毛发平滑肌瘤、生殖器平滑肌瘤和血管平滑肌瘤。毛发平滑肌瘤起源于立毛肌,通常为位于四肢和躯干的单个或多个坚实丘疹结节;生殖器平滑肌瘤起源于肉膜、外阴或乳腺平滑肌,为位于阴囊、外阴或乳头的单个丘疹结节或带蒂丘疹;血管平滑肌瘤包括实性、海绵状或静脉型亚型,起源于小动脉和静脉的中膜,通常出现在四肢。所有CLs的诊断都需要进行部分/切除活检。组织学显示梭形细胞呈交织束状排列,有中等量嗜酸性细胞质,核钝圆、细长,有核周晕。手术切除对CLs有治愈作用,其他治疗选择包括药物或破坏性治疗;建议对HLRCC相关肿瘤进行主动监测,目前正在积极研究药物治疗。