Diffuse Nonepidermolytic Palmoplantar Keratoderma

Diffuse Nonepidermolytic Palmoplantar Keratoderma Research Fallback

⚠️ Fallback MONDO:0010962

Diffuse Nonepidermolytic Palmoplantar Keratoderma Research Fallback

Deep-research provider attempts were bounded and did not produce usable output:

  • just research-disorder falcon Diffuse_Nonepidermolytic_Palmoplantar_Keratoderma was stopped after extended silence; the wrapper returned exit code 124 after the provider process was terminated.
  • just research-disorder openai Diffuse_Nonepidermolytic_Palmoplantar_Keratoderma was stopped after extended silence; the wrapper returned exit code 124 after the provider process was terminated.

Local curation proceeded from generated Orphanet and PubMed caches:

  • ORPHA:530838: primary structured record for KRT1-related diffuse nonepidermolytic keratoderma, including definition, autosomal dominant inheritance, KRT1 gene association, epidemiology, exact MONDO/OMIM mappings, and 15 HPO phenotype rows.
  • ORPHA:496: sparse historical Thost-Unna palmoplantar keratoderma record, used only as a naming-history signal.
  • PMID:30452289: KRT1 splice-site mutation in a large Han Chinese diffuse NEPPK pedigree.
  • PMID:7531539: autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma in northern Sweden, regional prevalence, fungal infections, and chromosome 12q11-q13 linkage.
  • PMID:32307694: hereditary palmoplantar keratoderma treatment review supporting topical symptom therapy and oral retinoids.

Scope note: no provider-generated synthesis was used. The YAML claims are limited to snippets available in the cached Orphanet/PubMed references listed above.