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[Hereditary predisposition to cancers of the digestive tract, breast, gynecological and gonadal: focus on the Peutz-Jeghers].
Bull Cancer
September 2014
CHRU Lille, service de génétique clinique, Lille, France.
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease due to mutations in the tumor suppressor gene STK11. PJS is characterized by periorificial hyperpigmented macules (lentiginosis) and hamartomatous polyposis. Polyps can be located anywhere in the gastrointestinal tract, but are preferably observed in the small bowel (70-90%), the colon (50%) and the stomach (25%).
View Article and Find Full Text PDFPeutz-Jeghers syndrome with germline mutation of STK11.
Ann Surg Treat Res
June 2014
Department of Laboratory Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea.
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intestine.
View Article and Find Full Text PDFPeutz-Jeghers syndrome: case report and literature review.
Rom J Morphol Embryol
October 2008
Department of Internal Medicine 2, Filantropia University Hospital, University of Medicine and Pharmacy of Craiova, Romania.
Periorificial lentiginosis, also knew as Peutz-Jeghers Syndrome (PJS), is an autosomally dominant inherited condition determined by a mutation localized at 19p13.3 responsible for mucocutaneous pigmentation and gastrointestinal polyps. Skin- and mucosal pigmentation may be present at birth but usually occur in early childhood, and occasionally may develop later.
View Article and Find Full Text PDFMelanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study.
Pediatr Dermatol
October 2003
Department of Dermatology, Ed. Herriot Hospital, Lyon, France.
Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis transmitted in a dominant, X-linked mode. It is characterized clinically by atrophic skin lesions, multiple mucocutaneous papillomas, hyperpigmented linear skin lesions, and several skeletal and visceral anomalies. We followed over several years a female patient with FDH, who had the characteristic atrophic cutaneous lesions and periorificial papillomas, who developed at the periphery of atrophic lesions peculiar lentigo-like pigmented macules.
View Article and Find Full Text PDF[Peutz-Jeghers syndrome. A case in an adolescent].
Pediatrie
July 1994
Service de pédiatrie, CHG, Annonay, France.
The Peutz-Jeghers syndrome includes periorificial melanin spots and digestive adenoma, transmitted according to an autosomal dominant mode. We report on a case discovered in a 13 year-old girl presenting with anaemia.
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