Puetz Jegher Syndrome in a Family in Ghana: A Case Series and Clinicopathologic Review

Mary Y Afihene¹ and Babatunde M Duduyemi^1,

¹Department of Medicine, Kwame Nkrumah University of Science & Technology, Kumasi, Ghana and Komfo Anokye Teaching Hospital, Kumasi, Ghana

Cite this paper:
Mary Y Afihene and Babatunde M Duduyemi. Puetz Jegher Syndrome in a Family in Ghana: A Case Series and Clinicopathologic Review. American Journal of Medical Sciences and Medicine. 2015; 3(2):14-19. doi: 10.12691/ajmsm-3-2-2

Abstract

Background: Peutz Jegher syndrome (PJS) is a condition in which multiple hamartomatous polyps are present in the gastrointestinal tract in association with distinctive mucocutaneous pigmentations. Some patients are diagnosed as children, where others might not be diagnosed until they reach their teen or adult years. Methodology: We studied a family of 7 with 5 having symptoms and signs of Peutz-Jegher syndrome using the review of clinical notes, diagnostic and interventional endoscopy, surgical intervention and histopathological assessment over a period of 6 years. Result: Mother and 3 have polyps and muco-cutaneous pigmentation, one has polyps only, one has muco-cutaneous pigmentation only and one has neither muco-cutaneous pigmentation nor polyps. Conclusion: The report demonstrated that PJS is a hereditary disease with variable penetrance. A molecular and genetic assessment of this family is recommended.

Keywords:
PJS buccal pigmentation harmatomatous polyps endoscopy

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

Figures

References:

[1]	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; 241:1031-1036.
[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.
[3]	Burdick D, Prior JT, Scanlon GT. Peutz-Jeghers syndrome: A clinical-pathological study of a large family with a 10-year follow-up. Cancer 1963: 16:854-867.
[4]	Barthommew LG, Dahlind C,Waugh JM. Intestinal polyposis associated with mucocutaneous pigmentation. New York J. Med. 1960;60: 1797-1801.
[5]	Lindor NM, Greene MH. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst 1998; 90(14): 1039-71. (13).
[6]	Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987; 316 (24): 1511-4. (14).
[7]	Kopacova M, Tacheci I, Rejchrt S, and Bures J. Peutz-Jeghers syndrome: Diagnostic and therapeutic approach. World J Gastroenterol. Nov 21, 2009; 15(43): 5397-5408.
[8]	McGarrity TJ, Amos CI, Frazier ML, Wei C. Puetz Jegher Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
[9]	Korsse SE, Dewint P, Kuipers EJ, van Leerdam ME. Small bowel endoscopy and Peutz Jegher Syndrome. Best Pract Res Clin Gastroenterol. 2012 Jun;26(3):263-78.
[10]	Riegert-Johnson D, Roberts M, Gleeson FC, Krishna M, Boardman L. Case studies in the diagnosis and management of Peutz-Jeghers syndrome. Fam Cancer. 2011 Sep;10(3):463-8.
[11]	Alimoğlu O, Sahin M, Cefle K, Celik O, Eryilmaz R, Palandüz S. Peutz-Jeghers syndrome: report of 6 cases in a family and management of polyps with intraoperative endoscopy. Turk J Gastroenterol. 2004 Sep;15(3):164-8.
[12]	Perko Z, Krnić D, Pogorelić Z, Druzijanić N, Simunić M, Bilan K, Kraljević D, Simunić MM.Peutz-Jeghers syndrome complicated with intussusception: enteroscopic polyps resections through laparotomy. Coll Antropol. 2013 Mar;37(1):293-6.
[13]	Homan M, Dolenc Strazar Z, Orel R. Peutz-Jeghers syndrome. A case report. Acta Dermatovenerol Alp Pannonica Adriat. 2005 Mar; 14(1):26-9.
[14]	Lin BC, Lien JM, Chen RJ, Fang JF, Wong YC. Combined endoscopic and surgical treatment for the polyposis of Peutz-Jeghers syndrome. Surg Endosc. 2000 Dec; 14(12):1185-7.
[15]	Zurac S, Micu G, Bastian A, Grămadă E, Lavric L, Andrei R, Stăniceanu F, Voiosu R, Croitoru A. Malignancy and overdiagnosis of malignancy in Peutz Jeghers polyposis. Rom J Intern Med. 2008; 46(2): 179-84.
[16]	Westerman AM, Wilson JH. Peutz-Jeghers syndrome: risks of a hereditary condition. Scand J Gastroenterol Suppl. 1999; 230: 64-70.
[17]	Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, de Rooij FW, Wilson JHP, Hansmann A, Moslein G, Royer-Pokora B, Vogel T, Phillips RKS, Spigelman AD, Houlston RS. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006a; 12: 3209-15.
[18]	Wangler MF, Chavan R, Hicks MJ, Nuchtern JG, Hegde M, Plon SE, Thompson PA. Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome. J Pediatr Hematol Oncol. 2013 May;35(4):323-8.
[19]	Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroenterology. 2005; 128: 1696-716.
[20]	Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010; 59: 975-86.
[21]	Caspari R, von Falkenhausen M, Krautmacher C, Schild H, Heller J, Sauerbruch T. Comparison of capsule endoscopy and magnetic resonance imaging for the detection of polyps of the small intestine in patients with familial adenomatous polyposis or with Peutz-Jeghers' syndrome. Endoscopy. 2004; 36: 1054-9.
[22]	Bishop P, Loftis S, Nowicki M. What syndrome is this? Peutz-Jeghers syndrome. Pediatr Dermatol. 2004; 21: 503-5.