Jan Peutz, Harold Jeghers and a remarkable combination of polyposis and pigmentation of the skin and mucous membranes

Familial Cancer

Volumn 1, Issue 3-4, 2001, Pages 181-185

  Keller, Josbert J ^a   Offerhaus, G Johan A ^a   Giardiello, Francis M ^b   Menko, Fred H ^c  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COLORECTAL CANCER; HISTORY OF MEDICINE; HUMAN; MOLECULAR GENETICS; NOSE POLYP; PEUTZ JEGHERS SYNDROME; POLYPOSIS; PRIORITY JOURNAL; REVIEW; SKIN PIGMENTATION;

HISTORY, 19TH CENTURY; HISTORY, 20TH CENTURY; HUMANS; MUCOUS MEMBRANE; NETHERLANDS; PEUTZ-JEGHERS SYNDROME; PORTRAITS; SKIN PIGMENTATION; UNITED STATES;

EID: 0035782645     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021149327174     Document Type: Review

References (23)

1. Peutz JLA. Over een zeer merkwaardige, gecombineerde familiaire polyposis van de slijmvliezen van den tractus intestinalis met die van de neuskeelholte en gepaard met eigenaardige pigmentaties van huid en slijmvliezen. Ned Maandschr Geneeskd 1921; 10: 134-46.
2. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. A syndrome of diagnostic significance. N Engl J Med 1949; 241: 993-1005, 1031-6.
3. van Wijk TW. Over het Syndroom Polyposis Adenomatosa Gastro-intestinalis Generalisata Heredofamiliaris Gecombineerd met Huid- en Slijmvliespigmentaties; of Ziekte van Peutz. Leiden: University of Leiden (thesis), 1950.
4. Caccamo LP. Harold Joseph Jeghers: A student for life. Jeghers Medical Index www.jeghers.com.
5. Connor JT. Aesculapian society of London. Lancet 1895; 2: 1169.
6. Hutchinson J. Pigmentation of lips and mouth. Arch Surg 1896: 7: 290.
7. McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol 2000; 95: 596-604.
8. Weber FP. Patches of deep pigmentation of oral mucous membrane not connected with Addison's disease. Q J Med 1949; 12: 404-8.
9. Jeghers H. Pigmentation of skin. N Eng J Med 1944; 231: 88-100, 122-36, 181-9.
10. Tourraine A, Couder F. Syndrome de Peutz (Lentigo-polypose digestive). Ann Dermat Syph 1945; 5: 313.
11. Bruwer A, Bargen JA, Kierland RR. Surface pigmentation and generalized intestinal polyposis (Peutz-Jeghers syndrome). Proc Mayo Clin 1954; 29: 168-71.
12. Hemminki A, Markie D, Tomlinson I et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998; 391: 184-7.
13. Jenne DE, Reimann H, Nezu J et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998; 18: 38-43.
14. McGrath DR, Spigelman AD. Preventive measures in Peutz-Jeghers syndrome. Familial Cancer 2002; 1: 121-5.
15. Mehenni H, Gehrig C, Nezu J et al. Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. Am J Hum Genet 1998; 63: 1641-50.
16. Westerman AM, Entius MM, de Baar E et al. Peutz-Jeghers syndrome: 78-Year follow-up of the original family. Lancet 1999; 353: 1211-5.
17. Gruber SB, Entius MM, Petersen GM et al. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res 1998; 58: 5267-70.
18. Foley TR, McGarrity TJ, Abt AB. Peutz-Jeghers syndrome: A clinicopathologic survey of the 'Harrisburg family' with a 49-year follow-up. Gastroenterology 1988; 95: 1535-40.
19. de Facq L, de Sutter J, de Man M et al. A case of Peutz-Jeghers syndrome with nasal polyposis, extreme iron deficiency anemia, and hamartoma-adenoma transformation: Management by combined surgical and endoscopic approach. Am J Gastroenterol 1995; 90: 1330-2.
20. Vogel T, Schumacher V, Saleh A et al. Extraintestinal polyps in Peutz-Jeghers syndrome: Presentation of four cases and review of the literature. Int J Colorectal Dis 2000; 15: 118-23.
21. Entius MM, Keller JJ, Westerman AM et al. Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome. J Clin Pathol 2001; 54: 126-31.
22. Keller JJ, Westerman AM, De Rooij FW et al. Molecular genetic evidence of an association between nasal polyposis and the Peutz-Jeghers syndrome. Ann Intern Med 2002; 136: 855-6.
23. Giardiello FM, Brensinger JD, Tersmette AC et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000; 119: 1447-53.