Holloway K B, Flowers F P
Division of Dermatology and Cutaneous Surgery, University of Florida College of Medicine, Gainesville, USA.
Dermatol Clin. 1995 Jan;13(1):99-103.
Multiple endocrine neoplasia type 2B/3 is characterized by multiple mucosal neuromas, a marfanoid appearance, medullary thyroid carcinoma, pheochromocytoma, gastrointestinal ganglioneuromatosis, and thickened corneal nerves. This rare syndrome is inherited in an autosomal dominant pattern. Early recognition followed by appropriate screening and treatment can be life-saving.
2B/3型多发性内分泌腺瘤病的特征为多发性黏膜神经瘤、类马凡氏体型外貌、甲状腺髓样癌、嗜铬细胞瘤、胃肠道神经节瘤病以及角膜神经增粗。这种罕见综合征以常染色体显性模式遗传。早期识别并随后进行适当的筛查和治疗可挽救生命。