Carvajal Syndrome

  • Desmoplakin gene mutation
  • Desmoplakin defect phenotypes:
    1. Carvajal syndrome
    2. Isolated striate palmoplantar keratoderma or cardiac anomalies
    3. Suprabasal epidermolysis bullosa simplex
    4. Erythrokeratodermia–cardiomyopathy syndrome
    5. Severe dermatitis, Multiple allergies, Metabolic wasting syndrome

  • Abnormal epidermal and cardiac myocyte desmosome activity

  • Areata and striate palmoplantar keratoderma (infancy), wooly hair (birth), cardiomyopathy (childhood-adolescence)
  • Scaly plaques / keratoses (elbow, knee, flexures)
    • Leukonychia and oligodontia in autosomal dominant type
    • Skin fragility, acantholysis, nail dystrophy, dental enamel defects in autosomal recessive type

  • Cardiac assessment necessary

Pathology: 

  • Increased intercellular distancing, partial suprabasal keratinocyte dehiscence, nuclear pyknosis, eosinophilic cytoplasm
  • Collapsed intermediate keratin filament network

Differential (woolly hair, cardiomyopathy, palmoplantar keratoderma)

  • Naxos disease (diffuse more than focal)
  • Desmocollin 2 defects

  • Unknown