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American Journal of Medical Sciences and Medicine. 2015, 3(2), 14-19
DOI: 10.12691/ajmsm-3-2-2
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Puetz Jegher Syndrome in a Family in Ghana: A Case Series and Clinicopathologic Review

Mary Y Afihene1 and Babatunde M Duduyemi1,

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

Pub. Date: May 14, 2015

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


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.

PJS buccal pigmentation harmatomatous polyps endoscopy

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