Skin Manifestations of Gastrointestinal Diseases: A Comprehensive Guide

In this video, we explore the various skin manifestations that can occur in gastrointestinal diseases. These manifestations can be a result of the gastrointestinal disease itself or can be indicative of systemic diseases or tumors. From celiac disease to inflammatory bowel disease, we delve into the different conditions and their associated skin manifestations. Additionally, we touch upon other syndromes like Juvenile polyposis syndrome, highlighting their unique characteristics and the skin manifestations they can present. Tune in to learn more about the fascinating relationship between gastrointestinal diseases and skin manifestations.

[00:00:07] Skin manifestations in gastrointestinal diseases.

[00:06:23] SMAD4 and arteriovenous malformations.

[00:11:04] Pseudopolyposis syndrome and its characteristics.

[00:16:12] Skin manifestations of stomach cancer.


  • Overview of skin manifestations of GI diseases
  • Skin findings can be due to the GI disease itself or related systemic diseases
  • Covers conditions like: celiac disease, IBD, infiltrative diseases, vasculitis, infections

Hereditary Polyposis Syndromes

  • Juvenile polyposis syndrome
    • Two classic types: infantile (severe diarrhea, bleeding) and adolescent/adult (GI bleeding, anemia, abdominal pain)
    • Polyps often in colon, rectum, stomach
    • High cancer risk by age 60
  • Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu)
    • Associated with juvenile polyposis via SMAD4 mutation
    • Explains the mechanism linking polyps and arteriovenous malformations
  • Banayan-Riley-Ruvalcaba syndrome
    • Hamartomatous GI polyps, hyperextensibility, hemangiomas
    • Lipomas, Hashimoto’s thyroiditis

Other Hamartomatous Syndromes

  • Peutz-Jeghers Syndrome
    • Characteristic mucocutaneous pigmentation
    • STK11 mutations; cancer risk (GI, breast, ovarian, etc)
  • Cowden Syndrome (PTEN)
    • Pathognomonic criteria (skin findings, oral lesions)
    • High risk of cancers (breast, thyroid, uterine, etc)
  • Bannayan-Riley-Ruvalcaba Syndrome
    • Hemangiomas, hyperextensibility, Hashimoto's thyroiditis
  • Cronkhite-Canada Syndrome (nonhereditary)
    • GI pseudopolyps, alopecia, nails, pigmentation
    • Antibiotics sometimes effective; role of zinc

Cancer-Associated Skin Conditions

  • Acanthosis nigricans
    • Paraneoplastic type has distinct distribution
    • Can indicate GI malignancy (stomach, colon, etc)
  • Sign of Leser-Trélat
    • Eruptive seborrheic keratoses
    • Indicates internal malignancy, poor prognosis
  • Erythema gyratum repens (Gammel's syndrome)
    • Figurate erythema associated with GI, breast, lung cancer

Conclusion & Additional Tips

  • Highlights interrelatedness of skin, GI, and systemic diseases
  • Genes, pathways, and clinical findings
  • Key for accurate pathology diagnosis
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