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Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy

Manuela Pigors1, Agnes Schwieger-Briel, Rodica Cosgarea

  • 1Department of Dermatology, Medical Center, University Freiburg, Freiburg, Germany.

Acta Dermato-Venereologica
|September 18, 2014
PubMed

Insights

Desmoplakin (DSP) gene mutations cause skin, hair, and heart conditions. This study identifies new DSP mutations linked to woolly hair, palmoplantar keratoderma, and cardiac issues, highlighting complex genotype-phenotype correlations.

Area of Science:

  • Genetics
  • Cardiology
  • Dermatology

Background:

  • Mutations in desmosomal genes cause various phenotypes, including skin and hair abnormalities, and are linked to arrhythmogenic right ventricular cardiomyopathy.
  • Over 120 dominant and recessive desmoplakin (DSP) gene mutations are known to cause skin, hair, and/or heart defects.

Observation:

  • This study reports three novel DSP gene mutations: c.7566_7567delAAinsC (p.R2522Sfs*39), c.7756C>T (p.R2586*), c.2131_2132delAG, and c.1067C>A (p.T356K).
  • These mutations were associated with variable presentations of woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations.

Findings:

  • The identified DSP mutations contribute to a spectrum of clinical features, including ectodermal abnormalities and cardiac involvement.
  • A review of literature emphasizes the intricate genotype-phenotype correlations in DSP-related disorders, which are challenging to predict.
  • The study underscores the complexity of desmoplakin-related disorders and the difficulty in predicting clinical outcomes based on genotype alone.

Implications:

  • Early diagnosis of DSP-related disorders is critical for timely intervention.
  • Regular cardiac examinations are essential for patients with suspected or confirmed DSP mutations to monitor for potential cardiac complications.
  • Understanding these genotype-phenotype correlations is vital for improved patient management and genetic counseling.

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