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Erythrokeratodermia cardiomyopathy syndrome

Last edited: 4/15/2026

Overview

Erythrokeratodermias are a heterogeneous group of inherited disorders characterized by well-demarcated erythematous lesions and hyperkeratotic plaques. Genetic heterogeneity is evident, with connexin mutations implicated in many cases, though other genetic causes like loricrin mutations also contribute to clinical variability 1.

Diagnosis

  • Presence of well-demarcated erythematous and hyperkeratotic skin lesions
  • Genetic testing for connexin mutations and loricrin mutations may aid in diagnosis 1
  • Clinical overlap with erythrokeratoderma variabilis and variant Vohwinkel syndrome complicates definitive classification 1

    • Management

  • No specific first-line treatments universally recommended; management often symptomatic
  • Topical emollients and keratolytics may help manage hyperkeratosis 1
  • Photoprotection is crucial to prevent exacerbation of erythematous lesions 1

    • Special Populations

  • Pediatrics: Early diagnosis and supportive care are essential; genetic counseling recommended for families 1
  • Comorbidities: No specific guidance provided in the abstracts regarding comorbidities 1

    • Key Recommendations

  • Genetic testing for connexin and loricrin mutations can aid in diagnosis and classification of erythrokeratodermias (Evidence: Moderate) 1
  • Implement photoprotection strategies to manage erythematous lesions (Evidence: Expert opinion) 1
  • Use topical emollients and keratolytics to alleviate hyperkeratotic symptoms (Evidence: Weak) 1

    • References

    1 Rogers M. Erythrokeratodermas: a classification in a state of flux?. The Australasian journal of dermatology 2005. link

    Original source

    1. [1]
      Erythrokeratodermas: a classification in a state of flux? — Rogers M The Australasian journal of dermatology (2005)
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