Peutz-Jeghers syndrome - Oral Mucosal Lesion
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.
Q85.8 – Other phakomatoses, not elsewhere classified
54411001 – Peutz-Jeghers syndrome
- 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.