Proteus Syndrome: A Rare Congenital Disorder.
Cureus
; 16(5): e60072, 2024 May.
Article
in En
| MEDLINE
| ID: mdl-38860105
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Cureus
Year:
2024
Document type:
Article