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Cronkhite-Canada syndrome — acquired non-Mendelian polyposis- ectodermal syndrome. Rare (...

Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.

IDRF-CRONKHITE-CANADA-CONFIRMED
TipoSeñal de alerta
Situaciónreviewed 2026-05-20 | pending_clinical_signoff
EnfermedadesDIS-CRC DIS-GASTRIC
FuentesSRC-AGA-IBD-CRC-2024 SRC-NCCN-GENETIC-FAMILIAL-CRC-2025

Origen de la bandera roja

DefiniciónCronkhite-Canada syndrome — acquired non-Mendelian polyposis- ectodermal syndrome. Rare (~1000 reported cases globally; primarily middle-aged + elderly adults). Clinical presentation: gastrointestinal polyposis (juvenile-like, throughout stomach + small bowel + colon diffusely) + ectodermal changes (diffuse alopecia, nail dystrophy with onycholysis, skin hyperpigmentation) + protein-losing enteropathy (hypoalbuminemia, edema, weight loss, electrolyte derangement). Lifetime CRC risk ~12-25%; gastric cancer also elevated per IPCG case-series. Pathogenesis unclear — autoimmune-like; may respond to immunosuppression (prednisone, azathioprine) + nutritional support; untreated mortality high (~50% 5-year if uncontrolled). Diagnosis is clinical + supported by classic GI biopsy + ectodermal pattern. Patient has confirmed clinical diagnosis; no current personal cancer diagnosis. Prevention-perso...
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "any_of": [
    {
      "finding": "cronkhite_canada_clinical_diagnostic_criteria_met",
      "value": true
    },
    {
      "finding": "gastrointestinal_polyposis_with_ectodermal_changes",
      "value": true
    },
    {
      "finding": "protein_losing_enteropathy_with_diffuse_gi_polyposis",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

Prevention-persona RedFlag for Cronkhite-Canada syndrome. risk_category set to chronic_condition (not genetic) because etiology is acquired autoimmune-like + non-Mendelian. Surveillance: colonoscopy q1-2y from diagnosis; upper endoscopy q1-2y; small-bowel capsule q2y; treat active disease with immunosuppression (prednisone taper + azathioprine maintenance) + nutritional support (protein replacement, electrolyte correction). Mortality reduced markedly with immuno- suppression treatment. STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

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