Abstract
Peutz-Jeghers syndrome is a rare autosomal dominant disorder of hamartomatous polyposis of the gastrointestinal tract, with pigmentation around lips and macules on the buccal mucosa that typically manifests itself as recurrent colicky abdominal pain and intestinal obstruction due to intussusception. Here we report a case of a 16-year-old girl who presented with abdominal pain, vomiting and previous history of laparotomy for intussusception. Multiple well demarcated black pigmented macules on lips, perioral region, buccal mucosa, digits, palms and soles were noted. She was diagnosed as a case of Peutz-Jeghers syndrome and managed conservatively. DOI: http://dx.doi.org/10.3329/jemc.v4i3.20958 J Enam Med Col 2014; 4(3): 184-187
Highlights
Peutz-Jeghers syndrome (PJS), known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract, presence of hyperpigmented macules on the lips and oral mucosa and susceptibility to multiple cancers.[1]
A clinical diagnosis of PJS may be made when any one of the following conditions is present in a single individual: two or more histologically confirmed PeutzJeghers (PJ) polyps; any number of PJ polyps detected in an individual who has a family history of PJS in a close relative; characteristic mucocutaneous pigmentation in an individual who has a family history of PJS in a close relative or any number of PJ polyps in an individual who has characteristic mucocutaneous pigmentation.[3]
We report a case of a 16-year-old girl who presented with abdominal pain, vomiting and previous history of laparotomy for intussusceptions and subsequently was diagnosed as a case of PJS
Summary
Peutz-Jeghers syndrome (PJS), known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract, presence of hyperpigmented macules on the lips and oral mucosa (melanosis) and susceptibility to multiple cancers.[1]. Peutz-Jeghers syndrome (PJS), known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract, presence of hyperpigmented macules on the lips and oral mucosa (melanosis) and susceptibility to multiple cancers.[1] It has an incidence of approximately 1 in 120000 births.[2]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
