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Proteus Syndrome: Case Report with Anatomopathological Correlation.

Javier Arredondo Montero1, Mónica Bronte Anaut2, Juan Carlos López-Gutiérrez3

  • 1Pediatric Surgery Department, Complejo Hospitalario de Navarra, Pamplona, Spain.

Fetal and Pediatric Pathology
|October 20, 2021
PubMed
Summary

Proteus syndrome involves progressive tissue overgrowth and carries risks for neoplasms and thrombosis. Genetic testing, specifically for AKT1 mutations, is crucial for confirming the diagnosis.

Keywords:
ProteusSyndromelobular adipose hyperplasiapediatricplantar cerebriform connective nevus

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Area of Science:

  • Medical Genetics
  • Dermatology
  • Pathology

Background:

  • Proteus syndrome is a rare disorder causing progressive, segmental overgrowth of tissues like bone, skin, and adipose tissue.
  • Histological hallmarks include patchy skin overgrowth, plantar cerebriform connective tissue nevus, and ossification defects.
  • Associated risks include neoplasms, pulmonary issues, and thrombotic events.

Observation:

  • A case report details a patient meeting clinical and histological criteria for Proteus syndrome.
  • The patient underwent multiple surgeries, including a right foot amputation.
  • Genetic analysis confirmed a mutation in the AKT1 gene.

Findings:

  • The AKT1 mutation was identified in the patient, confirming the genetic basis.
  • Clinical and histological findings were consistent with Proteus syndrome diagnosis.
  • Differential diagnoses like CLOVES syndrome, neurofibromatosis 1, and PTEN hamartoma tumor syndrome were considered.

Implications:

  • Genetic confirmation is essential for accurate Proteus syndrome diagnosis.
  • Understanding AKT1 mutations aids in differentiating Proteus syndrome from similar conditions.
  • This case highlights the importance of genetic evaluation in complex overgrowth disorders.