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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

  • Familial lentiginosis syndromes such as LEOPARD syndrome and NAME may appear similar, but they have other associated systemic signs, and the pigmentation is not as clearly periorificial.
  • Addison disease – May give rise to multiple melanotic macules on the oral mucosa, but ACTH levels are elevated.
  • Laugier-Hunziker syndrome – Oral melanotic macules and melanotic striations on the nails.
  • Albright syndrome – Oral melanotic macules but also associated with precocious puberty and polyostotic fibrous dysplasia.
  • Drug-induced pigmentation – May affect the skin and oral mucosa but pigmentation usually not in periorificial configuration.
  • Human immunodeficiency virus infection – Often causes diffuse eruptive pigmentary macules of the oral cavity, but they are usually intraoral.

Best Tests

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Therapy

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References

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Last Reviewed: 06/21/2019
Last Updated: 06/26/2019
Copyright © 2019 VisualDx®. All rights reserved.
Peutz-Jeghers syndrome in Infant/Neonate
See also in: Oral Mucosal Lesion
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Peutz-Jeghers syndrome : Abdominal pain, Diarrhea, Vomiting, Hematochezia
Clinical image of Peutz-Jeghers syndrome
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