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Peutz-Jeghers syndrome

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A condition characterized by gastrointestinal polyposis (especially of the small intestine) associated with benign adenomatous (hamartous) tumours 0.5 to 7.0 cm in diameter, and mucocutaneous pigmentation consisting of discrete brown to bluish-black macules about the lips, oral mucosa, and other facial orifices. Anaemia due to bleeding from the intestinal polyps is a common finding. Malignancy supervenes in the polyps in a minority of affected persons. Recurrent and severe abdominal pain can occur. Symptoms begin in adolescence. Both sexes and all ethnic groups affected. The disorder is familial in 40 to 55 percent of cases and inherited as a simple Mendelian dominant with complete penetration and variable expressivity. Also sporadic occurrence. It is a rare disease affecting about 1 in 25,000 individuals.

In 1921 Peutz gave a full description of a familial condition which was characterised by intestinal polyposis and pigmentation of the skin and mucous membranes. The dermal involvement in this disorder had previously been described by Sir Jonathan Hutchinson in 1896, when he reported identical twins, one of whom subsequently died of intussusceptions. Frederick Parkes Weber described this in 1919.

In 1949 a work of Jeghers, McKusick and Katz was published under the title of "Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits".

In 1949 Jeghers and his colleagues in the USA wrote a detailed account of the condition and the term Jeghers or Jeghers-Peutz syndrome came into use. Peutz, with characteristic modesty, had expressed his wish that his name should not be used eponymously, but in the following year one of his postgraduate students, Van Wijk, published on the topic of the Ziekte van Peutz and established his mentor's priority. Thereafter the reversed form of the conjoined eponym Peutz-Jeghers syndrome gained general acceptance.

The eponymic term Peutz-Jeghers syndrome was introduced by the radiologist André J. Bruwer in 1954.


  • J. Hutchinson:
    Pigmentation of lip and mouth. Archives of Surgery, London, 1896, 7: 290.
  • J. L. A. Peutz:
    Over een zeer merkvaardige gecombineerde familiaire polyposis van de slijmvliezen, van den tractus intestinalis met die van de neuskeelholte en gepard met eigenaardige pigmentaties van huid en slijmvliezen.
    Nederlandsch Maandschrift voor Geneeskunde, Amsterdam, 1921, 10: 134-136.
    "Very remarkable case of familial polyposis of mucous membraneof intestinal tract and nasopharynx accompanied by peculiar pigmentation of skin and mucous membrane".
  • F. P. Weber:
    Patches of deep pigmentation of the oral mucous membrane not connected with Addison’s disease.
    Quarterly Journal of Medicine, Oxford, 1919, 12: 204-208.
  • H. Touraine, F. Couder:
    Syndrome de Peutz (lentigo-polypose digestive).
    Annales de dermatologie et de syphilographie, Paris, 1945, 5: 313.
  • H. Jeghers:
    Pigmentation of the skin.
    The New England Journal of Medicine, 1944, 231: 88-100, 122-136, 181-189.
  • H. J. Jeghers, V.A. McKusick, K. H. Katz:
    Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. A syndrome of diagnostic significance.
    The New England Journal of Medicine, Boston, 1949, 241: 993-1005, 1031-1036.
  • A. Bruwer, J. A. Bargen, R. R. Kierland:
    Surface pigmentation and generalized intestinal polyposis (Peutz-Jeghers syndrome).
    Proceedings of the Staff Meetings of the Mayo Clinic, 1954, 29: 168­-171.
  • G. F. Klostermann:
    Pigmentflecken-polypose. Klinische, histologische und erbbiologische Studien an sogenannten Peutz-Syndrom. Stuttgart, Thieme, 1960.
  • Josbert J. Keller, G. Johan A. Offerhaus, Francis M. Giardiello and Fred H. Menko:
    Jan Peutz, Harold Jeghers and a remarkable combination of polyposis and pigmentation of the skin and mucous membranes.
    Familial Cancer, 2001, 1: 181-­185.
  • Douglas Riegert-Johnson, MD:
    Familial Cancer Syndromes. 2009.
    Chapter 1. Peutz-Jeghers Syndrome. By: Douglas Riegert-Johnson, Ferga C. Gleeson, Wytske Westra, Timothy Hefferon, Louis M. Wong Kee Song, Lauren Spurck, and Lisa A. Boardman
    See: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=famcan

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