变形综合征：一例罕见病例报告。

Proteus syndrome: A rare case report.

作者信息

Talari Keerthi, Subbanna Praveen Kumar Arinaganhalli, Amalnath Deepak, Suri Subrahmanyam Dharanitragada Krishna

机构信息

Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.

出版信息

Indian J Hum Genet. 2012 Sep;18(3):356-8. doi: 10.4103/0971-6866.108036.

DOI:10.4103/0971-6866.108036

PMID:23716948

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3656529/

Abstract

Proteus syndrome (PS) is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands.

摘要

变形综合征（PS）是一种罕见的错构瘤性疾病，其特征为各种皮肤和皮下病变，包括血管畸形、脂肪瘤、色素沉着以及多种类型的痣。伴有肢体或手指过度生长的部分巨人症是PS的特征性表现。我们报告了一例罕见的PS病例，患者为一名50岁男性，因下壁心肌梗死就诊，偶然发现双手示指和中指肥大。