Diagnosis: Peutz-Jeghers syndrome
Our patient was given a diagnosis of Peutz-Jeghers syndrome (PJS) based on the characteristic pigmented mucocutaneous macules and numerous polyps in the stomach and small bowel. PJS is an autosomal dominant syndrome characterized by mucocutaneous pigmentation, polyposis of the GI tract, and increased cancer risk. The prevalence is approximately 1 in 100,000.1 Genetic testing for the STK11 gene mutation, which is found in 70% of familial cases and 30% to 67% of sporadic cases, is not required for diagnosis.1
What you’ll see. The bluish brown to black spots of PJS often are apparent at birth or in early infancy. They are most common on the lips, buccal mucosa, perioral region, palms, and soles.
The polyps may cause bleeding, anemia, and abdominal pain due to intussusception, obstruction, or infarction.2 Intussusception is the most frequent cause of morbidity in childhood for PJS patients.3,4 Recurrent attacks of abdominal pain likely result from recurring transient episodes of incomplete intussusception. The polyps usually are benign, but patients are at increased risk of GI and non-GI malignancies such as breast, pancreas, lung, and reproductive tract cancers.1 Most cancers associated with PJS occur during adulthood.2
Other possible causes of hyperpigmentation
PJS can be differentiated from other causes of hyperpigmentation by clinical presentation and/or genetic testing.
Laugier-Hunziker syndrome manifests with macular hyperpigmentation of the lips and buccal mucosa and pigmented bands on the nails in young or middle-aged adults. It is not associated with intestinal polyps.
Continue to: Cronkhite-Canada syndrome