Peutz-Jeghers syndrome

Abstract

Phenotype and clinics Skin numerous brown or bleuish mucocutaneous macules (melanin spots), especially around the orifices (mouth, including the buccal mucosa, eyes, nostrils, anus, genitalia), on the hands...; they tend to deseapear with age; (at puberty or in adulthood); Note: in patients with isolated mucocutaneous melanotic pigmentation (without polyps), the cancer risk is lower, and the genetic defect looks different. Gastrointestinal tract (GI tract): polyps of amartomatous origin (with a characteristic arborization of nonstriated muscles) may be found in any portion of the GI tract with varying frequencies: from 95% to 15%: in the small bowel, jejunum, ileum, large intestin, rectum,stomach, and the duodenum; risk of intussusception, which may be cause of death; onset for symptoms occurs from the firstyear of life to elderness (median age10-25 years, somewhat earlier in male patients); polyps of other organs can occur.