Altaykan Asli, Ersoy-Evans Sibel, Emre Serap, Orhan Diclehan, Güçer Safak, Erkin Gül
Hacettepe University Faculty of Meicine, Department of Dermatology, Ankara, Turkey.
Eur J Dermatol. 2007 Jul-Aug;17(4):292-4. doi: 10.1684/ejd.2007.0202. Epub 2007 Jun 1.
Multiple endocrine neoplasia (MEN) type 2B syndrome is an autosomal dominantly inherited endocrine disorder with rare skin manifestations. We report the case of a 19-year-old Turkish girl who presented with skin-colored flat papules scattered all over the trunk and extremities. Additionally, she had marfanoid habitus, thick lips, and multiple flesh-colored papules over the inner eyelids and oral mucosa. Histopathological examination of one of the trunk lesions was consistent with lichen nitidus. Her past medical history was significant for medullary thyroid carcinoma. Genetic testing showed a point mutation in exon 16 at codon 918 (M918T) in the RET proto-oncogene. Based on all these findings, MEN type 2B was diagnosed. To the best of our knowledge we report the first case of MEN type 2B associated with lichen nitidus.
多发性内分泌腺瘤病(MEN)2B型综合征是一种常染色体显性遗传的内分泌疾病,伴有罕见的皮肤表现。我们报告了一例19岁的土耳其女孩,她躯干和四肢散在分布着肤色扁平丘疹。此外,她有类马凡氏体型、厚嘴唇,内眼睑和口腔黏膜有多个肉色丘疹。对躯干一处皮损进行组织病理学检查,结果符合光泽苔藓。她既往有甲状腺髓样癌病史。基因检测显示RET原癌基因第16外显子第918密码子(M918T)存在点突变。基于所有这些发现,诊断为MEN 2B型。据我们所知,我们报告了首例与光泽苔藓相关的MEN 2B型病例。