Sutphen R, Galán-Goméz E, Kousseff B G
Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
Am J Med Genet. 1995 Jan 30;55(3):325-30. doi: 10.1002/ajmg.1320550316.
Genitourinary neurofibromas are rare and clitoral involvement in neurofibromatosis (NF) has been reported infrequently. However, when it occurs, clitoromegaly is often the presenting sign. In many cases, it is congenital. In 236 families with type 1 neurofibromatosis (NF-1) evaluated through the USF Regional Genetics Program between January 1982 and September 1993, four patients had clitoral involvement. In three, involvement was limited to the clitoris. Biopsy/surgical excision in two of them showed a neurofibroma in one and non-specific hamartomatous soft tissue overgrowth in the other. In the fourth patient, the involvement was asymmetric and extended to the labia majora and mons pubis. Endocrine studies and chromosomes in all patients were normal; there was no exposure to androgens, progestins, or coumadin. There was no gestational history of maternal luteomas. Review of the literature documented 26 patients with NF and clitoral involvement. Clitoral involvement in NF-1 appears to be more common than previously reported and the differential diagnosis of ambiguous genitalia should include clitoromegaly due to NF. Pathogenesis of clitoral lesions appears similar to other lesions of NF. Biopsy of such lesions appears to be justified only when malignancy is suspected.
泌尿生殖系统神经纤维瘤罕见，关于神经纤维瘤病（NF）累及阴蒂的报道不多。然而，一旦发生，阴蒂肥大往往是主要表现。在许多情况下，这是先天性的。1982年1月至1993年9月期间，通过南佛罗里达大学区域遗传学项目评估的236个1型神经纤维瘤病（NF-1）家庭中，有4例患者阴蒂受累。其中3例仅累及阴蒂。其中2例的活检/手术切除显示，1例为神经纤维瘤，另1例为非特异性错构瘤性软组织过度生长。第4例患者的病变不对称，累及大阴唇和耻骨联合。所有患者的内分泌检查和染色体均正常；未接触过雄激素、孕激素或香豆素。无母体黄体瘤的妊娠史。文献回顾记录了26例NF累及阴蒂的患者。NF-1累及阴蒂似乎比之前报道的更为常见，两性畸形的鉴别诊断应包括NF所致的阴蒂肥大。阴蒂病变的发病机制似乎与NF的其他病变相似。仅在怀疑恶性肿瘤时，对此类病变进行活检才是合理的。
