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Peutz-Jeghers syndrome in Infant/Neonate
See also in: Oral Mucosal Lesion
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Peutz-Jeghers syndrome in Infant/Neonate

See also in: Oral Mucosal Lesion
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Contributors: Connie Zhong, Craig N. Burkhart MD, Dean Morrell MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant syndrome associated with both mucocutaneous pigmentation and multiple intestinal hamartomatous polyps. The genetic defect is due to mutations in serine / threonine kinase 11 (STK11) gene.

Pigmented cutaneous and mucosal macules usually present at birth or in infancy. Those on the skin and lips fade around the time of puberty but the intraoral macules tend to persist. The gastrointestinal (GI) polyps typically present in adolescence or early adulthood and are most commonly in the small intestine, although any part of the GI tract may be involved. Polyps may also be extraintestinal, such as in the respiratory and urinary tracts.

Patients with polyps in the GI tract may present with abdominal pain, GI bleeding, diarrhea, intussusception, or obstruction. The polyps are benign hamartomas. They may start to grow early in childhood, but tend to develop in the second decade.

Because STK11 is a tumor suppressor gene, patients with PJS have an increased risk of developing malignant tumors compared with the general population. In a 2010 systematic review looking at over 1000 PJS patients, colorectal cancer was the most common malignancy, followed by breast, small bowel, gastric, and pancreatic cancer. Testicular and ovarian cancer risk is also increased. The GI tract polyps themselves have a cumulative risk of around 13% of developing into small intestine carcinoma. Malignancies typically arise in adulthood (for example, the mean age of diagnosis for small intestine cancer is 42 years), so patients should undergo frequent cancer screenings.

For more information, see OMIM.

Codes

ICD10CM:
Q85.8 – Other phakomatoses, not elsewhere classified

SNOMEDCT:
54411001 – Peutz-Jeghers syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Causes of diffuse oral pigmentation:
  • Physiologic pigmentation – Diffuse and bilateral, childhood onset (see multifocal or diffuse mucosal pigmentation).
  • Cronkhite-Canada syndrome – Nonfamilial gastrointestinal polyposis syndrome with associated cutaneous hyperpigmented macules, onychodystrophy, and alopecia.
  • Laugier-Hunziker syndrome
  • McCune-Albright syndrome – Polyostotic fibrous dysplasia, café-au-lait spots, and gonadotropin-independent precocious puberty.
  • Carney complex – Lentigines of the lips and intraoral pigmentation may be present.
  • Primary hypoadrenalism (Addison disease) – Diffuse blue-black streaks or patches on oral mucosa and tongue in addition to hyperpigmentation, particularly in sun-exposed areas and flexural creases; also with fatigue, hypotension, electrolyte abnormalities. Palms and nails may also be affected. 
  • Other endocrine disorders: hyperthyroidism, Cushing disease
  • Drug-induced oral pigmentation including from minocycline, antimalarials, clofazimine, and oral contraceptives
  • Elevated heavy metal levels (lead, bismuth, silver, mercury, gold, arsenic) – Blue-black discoloration along the gingival margin.
  • Postinflammatory pigmentation – Hyperpigmented lesions at sites of previous inflammatory or traumatic lesions or adjacent to active lesions (eg, lichen planus, pemphigus, pemphigoid).
  • Smoker's melanosis – Brown-black lesions on the anterior labial and buccal mucosa in smokers.
Purple macules may mimic brown pigmented macules:
  • Scurvy – Ecchymosis, sometimes dusky purple discoloration of the gingiva with intraoral swelling and hemorrhage.
  • Kaposi sarcoma – Bilateral brown to purple plaques / nodules in human immunodeficiency virus (HIV)-positive individuals; ulcerative and necrotic in advanced stages.

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Therapy

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References

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Last Reviewed: 06/21/2019
Last Updated: 11/06/2019
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Peutz-Jeghers syndrome in Infant/Neonate
See also in: Oral Mucosal Lesion
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Peutz-Jeghers syndrome : Abdominal pain, Diarrhea, Vomiting, Hematochezia
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