Rallis Efstathios, Ragiadakou Dimitra
Department of Dermatology, Army General Hospital, Athens, Greece.
Dermatol Online J. 2009 May 15;15(5):7.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder primarily affecting the development and growth of nerve cell tissues. Plexiform neurofibroma is considered an uncommon skin tumor. The involvement of the genitourinary tract or the lower limb is rare, with bladder, upper urinary tract and genital involvement reported in decreasing order of frequency. The management of patients with plexiform neurofibroma is not well defined and aiming mostly at controlling symptoms. We present a case of a giant genitourinary plexiform neurofibroma associated with lower limb gigantism in a patient with NF1.
1型神经纤维瘤病(NF1)是一种常染色体显性疾病,主要影响神经细胞组织的发育和生长。丛状神经纤维瘤被认为是一种罕见的皮肤肿瘤。泌尿生殖道或下肢受累情况罕见,膀胱、上尿路和生殖器受累的报告频率依次递减。丛状神经纤维瘤患者的治疗方法尚不明确,主要目的是控制症状。我们报告1例患有1型神经纤维瘤病的患者,其患有巨大的泌尿生殖系统丛状神经纤维瘤并伴有下肢巨大症。