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[Palmoplantar dermatoses: when should genes be considered?].

C Seebode1, S Schiller, S Emmert

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Palmoplantar keratoses (PPK) have acquired or hereditary causes. Understanding gene defects in hereditary PPK is crucial for accurate diagnosis and patient care.

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Area of Science:

  • Dermatology
  • Genetics
  • Medical Science

Context:

  • Palmoplantar dermatoses, including palmoplantar hyperkeratosis (PPK), are common and can cause significant functional impairment and social stigma.
  • PPK can be broadly classified into acquired (non-hereditary) and hereditary (monogenetic) forms.
  • A substantial number of PPK cases stem from underlying genetic defects, presenting as a heterogeneous group of rare disorders.

Purpose:

  • To review the latest literature on the common causes of both acquired and hereditary palmoplantar keratoses.
  • To guide physicians in recognizing when to suspect hereditary PPK and identify potential causative genes.
  • To highlight the shift towards a gene-defect-based classification replacing traditional clinical methods.

Summary:

  • Acquired PPK commonly arise from inflammatory conditions (psoriasis, eczema), toxic exposures, or infections (HPV, syphilis).
  • Hereditary PPK can manifest independently, as part of syndromes, or as paraneoplastic markers.
  • Current research indicates a new classification based on causative gene defects is emerging, complementing traditional clinical and histological distinctions.

Impact:

  • Enhanced understanding of the diverse etiologies of PPK, encompassing both common acquired causes and rarer genetic origins.
  • Improved diagnostic capabilities for physicians encountering PPK, facilitating timely identification of hereditary forms.
  • Facilitates better patient and family counseling and treatment strategies for individuals affected by hereditary palmoplantar keratoses.