Peutz-Jeghers syndrome (hamartomatous intestinal polyposis)
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Introduction
Intestinal polyposis with freckles.
Epidemiology
rare, 1 in 120,000[3]
Pathology
- hamartomas mostly involving the small bowel
- slightly increased risk of developing carcinoma
Genetics
- autosomal dominant inheritance
- associated with defects in STK11
Clinical manifestations
- generalized multiple polyposis of the intestinal tract, consistently involving the jejunum
- 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
- intermittent bloody stools
- abdominal pain
* Image[6]
Diagnostic procedures
- 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
- 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
- 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]
More general terms
More specific terms
Additional terms
References
- ↑ Stedman's Medical Dictionary 24th ed, Williams & Wilkins, Baltimore, 1982
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 174
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018, 2021.
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 573
- ↑ 5.0 5.1 5.2 5.3 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: https://www.ncbi.nlm.nih.gov/pubmed/20581245
- ↑ 6.0 6.1 6.2 6.3 6.4 6.5 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
Patient information
Peutz Jeghers syndrome patient information