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Peutz-Jeghers Syndrome

definition

Autosomal dominant disorder characterized by mucocutaneous pigmentation and generalized intestinal polyposis. Clinically normal carriers and monosymptomatic cases have been reported. The pigmented macules usually appear in early childhood, but may be present at birth or develop later in life. The oral mucous membrane is almost constantly involved. Patches of brown or almost black pigmentation 1 - 5 mm in diameter are irregularly distributed over the buccal mucosa, the gums, the hard palate and the lips. Pigmented macules may also appear on the face, especially around the nose and mouth, and on the hands and feet. Intestinal polyposis can express itself in vomiting and abdominal pain. Symptoms of ileus, gastrointestinal bleeding, and secondary anaemia may occur as a consequence. There is an increased risk of malignancy.

synonyms

Peutz-Jeghers Syndrome, Pigment Spot Polyposis, Periorificial Lentiginosis

UMLS

INTESTINAL POLYPOSIS-CUTANEOUS PIGMENTATION SYNDROME, Lentiginoses, Perioral, Lentiginosis, Perioral, Perioral Lentiginoses, Perioral Lentiginosis, Periorificial lentiginosis, Periorificial lentiginosis syndrome, Peutz - Jeghers polyposis, Peutz Jeghers Syndrome, Peutz Jegher's Syndrome, Peutz-Jegher Syndrome, Peutz-Jeghers Syndrome, Peutz-Jegher's Syndrome, Peutz-Jeghers' syndrome, PJS - Peutz - Jehgers syndrome, POLYPOSIS, INTESTINAL, II, Syndrome, Peutz-Jeghers, Syndrome, Peutz-Jegher's

images

5 images found for this diagnose
localisation: lips (skin), diagnosis: Peutz-Jeghers Syndrome localisation: mucous membrane of the mouth, diagnosis: Peutz-Jeghers Syndrome localisation: lower lip, diagnosis: Peutz-Jeghers Syndrome localisation: tip of the finger, diagnosis: Peutz-Jeghers Syndrome localisation: finger, diagnosis: Peutz-Jeghers Syndrome