Peutz-Jeghers syndrome
| Peutz-Jeghers syndrome | |
|---|---|
 |
|
| Micrograph of Peutz-Jeghers type colonic polyp. H&E stain. | |
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q85.8 |
| ICD-9-CM | 759.6 |
| OMIM | 175200 |
| DiseasesDB | 9905 |
| MedlinePlus | 000244 |
| eMedicine | med/1807 article/182006article/1664349 |
| MeSH | D010580 |
| GeneReviews | |
| Orphanet | 2869 |
Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis). This syndrome can be classed as one of various hereditary intestinal polyposis syndromes and one of various hamartomatous polyposis syndromes. It has an incidence of approximately 1 in 25,000 to 300,000 births.
The risks associated with this syndrome include a strong tendency of developing cancer in a number of parts of the body. While the hamartomatous polyps themselves only have a small malignant potential (<3% - OHCM), patients with the syndrome have an increased risk of developing carcinomas of the pancreas, liver, lungs, breast, ovaries, uterus, testicles and other organs.
The average age of first diagnosis is 23, but the lesions can be identified at birth by an astute pediatrician. Prior to puberty, the mucocutaneous lesions can be found on the palms and soles. Often the first presentation is a bowel obstruction from an intussusception which is a common cause of mortality; an intussusception is a telescoping of one loop of bowel into another segment.
The main criteria for clinical diagnosis are:
Having 2 of the 3 listed clinical criteria indicates a positive diagnosis. The oral findings are consistent with other conditions, such as Addison's disease and McCune-Albright syndrome, and these should be included in the differential diagnosis. 90-100% of patients with a clinical diagnosis of PJS have a mutation in the STK11/LKB1 gene. Molecular genetic testing for this mutation is available clinically.
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