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[Autosomal dominant punctate palmoplantar keratoderma].

Susana Mallo1, Ana I Bernal, María Inés Fernández-Canedo

  • 1Servicio de Dermatología, Hospital Costa del Sol, Marbella, Málaga, Spain. susana2505@yahoo.com

Actas Dermo-Sifiliograficas
|April 6, 2006
PubMed
Summary

Hereditary punctate palmoplantar keratoderma (Buschke-Fisher-Brauer disease) is a rare genetic skin condition. This case highlights its presentation and potential links to other diseases, emphasizing differential diagnosis.

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Area of Science:

  • Dermatology
  • Genetics
  • Medical Case Reports

Background:

  • Hereditary punctate palmoplantar keratoderma, also known as Buschke-Fisher-Brauer disease, is an autosomal dominant genetic disorder.
  • It typically manifests between ages 12 and 30 with variable penetrance.
  • The condition involves hyperkeratotic papules on palms and soles and may be associated with malignancies.

Observation:

  • A 43-year-old male patient presented with hereditary punctate palmoplantar keratoderma.
  • The patient had no other associated symptoms.
  • A first-degree relative was affected and had a history of colon cancer.

Findings:

  • The case illustrates the clinical presentation of Buschke-Fisher-Brauer disease.
  • It underscores the importance of considering potential associations with other diseases, particularly malignant processes.

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  • Differential diagnosis with other conditions is crucial for accurate management.

    • Implications:

    • This case contributes to understanding the variable presentation of hereditary palmoplantar keratoderma.
    • It emphasizes the need for vigilance regarding potential associated conditions, including cancer.
    • Further research may elucidate the genetic and clinical links between this keratoderma and other diseases.