Proteus Syndrome: A Rare Congenital Disorder.
congenital abnormalities
connective tissue naevus
pediatric disease
pediatric vascular malformation
proteus syndrome
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
May 2024
May 2024
Historique:
received:
30
04
2024
accepted:
10
05
2024
medline:
11
6
2024
pubmed:
11
6
2024
entrez:
11
6
2024
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 38860105
doi: 10.7759/cureus.60072
pmc: PMC11163185
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
e60072Informations de copyright
Copyright © 2024, Khaladkar et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.