ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (19)
Peutz-Jeghers syndrome - Oral Mucosal Lesion
See also in: Skin
Print
Other Resources UpToDate PubMed

Peutz-Jeghers syndrome - Oral Mucosal Lesion

See also in: Skin
Print Images (19)
Contributors: Carl Allen DDS, MSD, Sook-Bin Woo MS, DMD, MMSc
Other Resources UpToDate PubMed

Synopsis

Peutz-Jeghers syndrome is a rare condition that presents with both mucocutaneous pigmentation and multiple intestinal polyposes. The genetic defect is due to mutations in serine-threonine protein-kinase-11 gene. Inherited in an autosomal dominant fashion, it may occur in any race or ethnic group. The pigmented skin macules may present in early childhood and sometimes fade over time.

The gastrointestinal polyps may be found throughout the GI tract, although the small intestine is most frequently involved. Patients present with abdominal pain, bleeding, diarrhea, intussusception, or obstruction. The polyps are benign hamartomas and have a low (2 to 13%) malignant potential. They may start to grow early in childhood, but tend to develop in the second decade.

Codes

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

SNOMEDCT:
54411001 – Peutz-Jeghers syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

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's disease – This may give rise to multiple melanotic macules on the oral mucosa but ACTH levels are elevated.
  • Laugier-Hunziker syndrome – This consists of oral melanotic macules and melanotic striations on the nails.
  • Albright's syndrome – This produces oral melanotic macules but is also associated with precocious puberty and polyostotic fibrous dysplasia.
  • Drug-induced pigmentation – This may affect the skin and oral mucosa but not usually in this periorificial configuration.
  • HIV infection - This often causes diffuse eruptive pigmentary macules of the oral cavity but they are usually intraoral.

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated: 05/19/2017
Copyright © 2018 VisualDx®. All rights reserved.
Peutz-Jeghers syndrome - Oral Mucosal Lesion
See also in: Skin
Print 19 Images Filter Images
View all Images (19)
(with subscription)
 Reset
Peutz-Jeghers syndrome : Abdominal pain, Diarrhea, Lips, Hematochezia, Hyperpigmented macules
Clinical image of Peutz-Jeghers syndrome
Copyright © 2018 VisualDx®. All rights reserved.