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
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

e60072

Informations de copyright

Copyright © 2024, Khaladkar et al.

Déclaration de conflit d'intérêts

The authors have declared that no competing interests exist.

Auteurs

Sanjay M Khaladkar (SM)

Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.

Neeha A Jhala (NA)

Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.

Karishma S Krishnani (KS)

Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D.Y. Patil Vidyapeeth, Pune, IND.

Eshan C Durgi (EC)

Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.

Classifications MeSH