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Multiple lentigenes syndrome.

R P Sharma1, S P Singh

  • 1Department of Dermato-Venereology, L.L.R.M. Medical College, Meerut (UP), India.

Indian Journal of Dermatology, Venereology and Leprology
|July 28, 2007
PubMed
Summary
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A rare case of Leopard syndrome, a genetic disorder, was identified in a young male. This forme fruste presentation highlights key diagnostic features of this complex condition.

Area of Science:

  • Genetics and rare diseases
  • Cardiology
  • Dermatology

Background:

  • Leopard syndrome is a rare autosomal dominant disorder.
  • It is characterized by a specific set of clinical features.
  • A forme fruste indicates a milder or incomplete form of the syndrome.

Purpose of the Study:

  • To report a unique case of Leopard syndrome.
  • To describe the clinical presentation of a forme fruste.
  • To contribute to the understanding of Leopard syndrome variability.

Main Methods:

  • Case report of a 23-year-old male.
  • Clinical examination focusing on lentigines, cardiac abnormalities, skin elasticity, and joint hypermobility.
  • Diagnostic criteria assessment for Leopard syndrome.

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Main Results:

  • The patient presented with multiple lentigines.
  • Pulmonary stenosis was identified.
  • Hyperelasticity of the skin and hypermobile metacarpophalangeal joints were noted.
  • These findings are consistent with a forme fruste of Leopard syndrome.

Conclusions:

  • This case illustrates a forme fruste of Leopard syndrome.
  • Early recognition of these features is crucial for diagnosis.
  • Understanding atypical presentations aids in managing rare genetic disorders.