Severo Mateus Dornelles, Rosa Verônica Denardin da, De Carli Diego Michelon, Beck Maristela de Oliveira, Danbermam Melissa Falster
Serviço de Clínica Médica, Hospital Universitário, Universidade Federal de Santa Maria, RS, Brazil.
Arq Bras Endocrinol Metabol. 2008 Feb;52(1):131-3. doi: 10.1590/s0004-27302008000100019.
The neurofibromatosis type 1 (NF1), also known as von Recklinghausens disease, is an autosomal dominant disorder, with high degree of variability of clinical expression, usually involved with formation of tumors, with benign origin in the majority of cases mainly localized in the region of the head and neck and rarely incident in the thyroid area. However, the association with medullary carcinoma of the thyroid (MCT) exists in literature and needs to be excluded. We report a case of a patient with NF1, nonfunctional thyroid nodule and obstructive symptoms. Surgical resection of lesion was performed, with histopathologic findings compatible with neurofibroma in thyroid tissue. This case is relevant not only because of the rarity of the presentation of NF1, but also due to the likely association with MCT, an aggressive tumor that can be cured by surgery.
1型神经纤维瘤病(NF1),也称为冯·雷克林豪森病,是一种常染色体显性疾病,临床表现具有高度变异性,通常与肿瘤形成有关,大多数情况下肿瘤起源于良性,主要位于头颈部区域,很少发生在甲状腺区域。然而,文献中存在与甲状腺髓样癌(MCT)相关的情况,需要排除。我们报告一例患有NF1、无功能性甲状腺结节和阻塞性症状的患者。对病变进行了手术切除,组织病理学结果显示甲状腺组织中的神经纤维瘤与之相符。该病例不仅因其NF1表现罕见而具有相关性,还因其可能与MCT相关,MCT是一种可通过手术治愈的侵袭性肿瘤。