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What is your diagnosis?

Manuela Panteliades1, Claudia Marcia Resende Silva1, Bernardo Gontijo1

  • 1Universidade Federal de Minas Gerais (UFMG) - Belo Horizonte, MG, Brazil.

Anais Brasileiros De Dermatologia
|July 21, 2016
PubMed
Summary
This summary is machine-generated.

CLOVES syndrome, a rare condition linked to PIK3CA gene mutations, presents with overgrowth and deformities. This case highlights unique skin and imaging features of this newly described disorder.

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Area of Science:

  • Genetics
  • Dermatology
  • Radiology

Background:

  • CLOVES syndrome is a rare genetic disorder associated with somatic mutations in the PIK3CA gene.
  • It is a newly described condition with limited understanding and documentation.

Observation:

  • This report details a case with a characteristic phenotype of CLOVES syndrome.
  • The case presented with peculiar cutaneous and radiological changes.

Findings:

  • The patient exhibited typical features of CLOVES syndrome, including adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities.
  • Specific attention was given to unusual skin manifestations and radiological findings.

Implications:

  • This case contributes to the understanding of CLOVES syndrome's clinical spectrum.
  • Highlighting unique features aids in diagnosis and management of this rare condition.