Proteus Syndrome: A Rare Congenital Disorder

被引：0

作者：

Khaladkar, Sanjay M. ^{[1
]}

Jhala, Neeha A. ^{[1
]}

Krishnani, Karishma S. ^{[2
]}

Durgi, Eshan C. ^{[1
]}

机构：

[1] Dr DY Patil Vidyapeeth, Dr DY Patil Med Coll Hosp & Res Ctr, Radiodiag, Pune, India

[2] Dr DY Patil Vidyapeeth, Dr DY Patil Med Coll Hosp & Res Ctr, Radiodiag, Pune, India

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2024年 / 16卷 / 05期

关键词：

pediatric disease; connective tissue naevus; pediatric vascular malformation; congenital abnormalities; proteus syndrome; MANIFESTATIONS; ANOMALIES;

D O I：

10.7759/cureus.60072

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

An uncommon congenital hamartomatous disorder called Proteus syndrome is characterized by multifocal tissue expansion originating from all three germinal layers. Diagnosis mainly relies on clinical and radiological criteria. Here, we present a case of a 13-year-old female child exhibiting bony, soft tissue, and vascular abnormalities, along with developmental delay. We conclude by highlighting the importance of imaging studies in conjunction with physical examination, which are characterized by general and specific criteria to diagnose this rare condition until a specific gene test becomes available.

引用

页数：10