Gastrointestinal polyposis with associated cutaneous manifestations

Melissa Duarte, Clara Milikowski

Research output: Contribution to journalReview articlepeer-review

Abstract

Cutaneous findings are commonly associated with underlying gastrointestinal disorders and, in many instances, may be the first manifestation. Many such syndromes have incomplete penetrance and variable expressivity, making them difficult to recognise. Skin manifestations may be an easily recognised feature of the underlying disorder. Most of these syndromes are hereditary but not all are associated with malignancies; either benign or premalignant extraintestinal lesions can be the initial manifestation. Some involve a single organ system, while others involve multiple organs of the gastrointestinal tract. In this review, we have focused on Lynch syndrome (hereditary nonpolyposis colon cancer and Muir–Torre syndrome), familial adenomatous polyposis, the hamartomatous polyposis syndromes that include Peutz–Jeghers syndrome and the PTEN hamartoma syndromes, which include Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome and, lastly, Cronkhite–Canada syndrome, which is not heritable. Some of these are associated with colorectal cancer, of which 15% are heritable. The majority are inherited in an autosomal dominant fashion. These syndromes are uncommon. However, because of the strong association with the cutaneous findings, early detection and screening may be possible and are key to decreasing the morbidity and mortality associated with them, for both the patient and family members. The clinical findings, epidemiological findings, underlying genetic alterations and pathological findings are reviewed.

Original languageEnglish (US)
JournalPathology
DOIs
StateAccepted/In press - 2021

Keywords

  • cutaneous manifestations
  • genetic defects
  • Hereditary polyposis syndrome

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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