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Peutz-Jeghers syndrome (hamartomatous intestinal polyposis)

Intestinal polyposis with freckles. Epidemiology: rare, 1 in 120,000 [3] Pathology: 1) hamartomas mostly involving the small bowel 2) slightly increased risk of developing carcinoma a) gastric carcinoma b) colorectal adenocarcinoma c) ovarian cancer, d) pancreatic cancer e) breast cancer f) endometrial cancer g) non-small-cell lung cancer Genetics: 1) autosomal dominant inheritance 2) associated with defects in STK11 Clinical manifestations: 1) generalized multiple polyposis of the intestinal tract, consistently involving the jejunum 2) melanin spots of the lips, buccal mucosa, periungual skin, fingers, toes, oral mucosa, nose, perianal region, genitalia [3,6] - melanocytic lesions tend to arise during infancy & fade during adulthood 3) intermittent bloody stools 4) abdominal pain * Image [6] Special laboratory: - upper GI endoscopy at age 8-10, repeat every 2 years - colonoscopy at age 25 [3] 10 [6], repeat every 2-3 years - capsule endoscopy for obscure source of GI bleed [3] * surveillance protocols are controversial & not evidence-based, due to the relative rarity of the condition [5] Radiology: - small bowel radiography at age 8-10, repeat every 2 years * surveillance protocols are controversial & not evidence-based, due to the relative rarity of the condition [3,5] Complications: - increased risk for gastrointestinal cancers - also an increased incidence of extraintestinal cancers - breast cancer, pancreatic cancer, ovarian cancer, testicular cancer, cervical cancer, lung cancer [6] - intussusception or intestinal obstruction [5] Differential diagnosis: - ephelides (freckles) tend not to involve mucosa - Laugier-Hunziker syndrome - mucocutaneous features similar to Peutz-Jeghers syndrome - no systemic manifestations - Addison's disease - more generalized hyperpigmentation - nausea/vomiting, abdominal pain, weakness, weight loss - no bloody stools - Gardner syndrome - epidermoid cysts, fibromas - Cowden syndrome - flesh-colored facial papules (tricholemmomas), oral mucosal papillomatosis - dysplastic nevus syndrome - multiple dysplastic nevi anywhere on the skin Management: - pulsed light therapy or laser therapy is a potential treatment option for pigmented skin lesions [6]

Related

hamartoma

Specific

Peutz Jeghers syndrome/chromosome 19p linkage Peutz Jeghers syndrome/chromosome 1p linkage

General

hamartomatous polyposis syndrome; familial hamartomatous polyposis

Properties

ASSOCIATED-NEOPLASM[S]: polyp :SITE intestine bronchus ureter urinary bladder

Database Correlations

OMIM correlations MORBIDMAP 602216

References

  1. Stedman's Medical Dictionary 24th ed, Williams & Wilkins, Baltimore, 1982
  2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 174
  3. Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018, 2021.
  4. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 573
  5. Beggs AD, Latchford AR, Vasen HF et al Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 Jul;59(7):975-86 PMID: 20581245
  6. Sato E, Goto T, Honda H Images in Dermatology Peutz-Jeghers Syndrome. JAMA Dermatol. 2022;158(11):1316 Online: October 5, 2022. https://jamanetwork.com/journals/jamadermatology/fullarticle/2796850