Peutz-Jeguers syndrome: case report and literature review
نویسندگان
چکیده
منابع مشابه
CASE REPORT Peutz–Jeghers syndrome: case report and literature review
Periorificial lentiginosis, also knew as Peutz–Jeghers Syndrome (PJS), is an autosomally dominant inherited condition determined by a mutation localized at 19p13.3 responsible for mucocutaneous pigmentation and gastrointestinal polyps. Skinand mucosal pigmentation may be present at birth but usually occur in early childhood, and occasionally may develop later. Round, oval or irregular patches o...
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McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
متن کاملPeutz-Jeghers syndrome, case report.
Peutz-Jeghers syndrome (PJS) is an unusual hamartomatous polyposis of the gastro intestinal (GI) tract, with pigmentation around lips and macules on the buccal mucosa. The case of a 10-year-old girl who presented with intussusception is reported. A polyp was found to be the cause of an invagination. Histologically it was a hamartoma. PJS is a rare syndrome inherited in an autosomal dominant pat...
متن کاملLaparoscopic treatment of intestinal intussusception in Peutz-Jeghers syndrome: case report and review of literature.
A 47-year-old woman presented with an abdominal mass and nausea. Abdominal ultrasound and computed tomography (CT) showed a sausage-shaped mass with invagination. One polyp that appeared to exceed 3 cm was found in the sigmoid colon. Laparoscopy confirmed an intussusception mass, and the intussusception was dissected by hand-assisted laparoscopy (HALS). The sigmoid colon was also mobilized to t...
متن کاملLowe syndrome: literature review and case report.
This paper is the first to describe dental findings and orthodontic characteristics of a young adult patient with Lowe syndrome. This syndrome is a rare genetic disorder inherited by a sex-linked pattern, involving primarily the kidneys, eyes and nervous system, which also present oral manifestations. This paper also present the results of careful extra and intra-oral evaluations and the findin...
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ژورنال
عنوان ژورنال: Journal of Coloproctology (Rio de Janeiro)
سال: 2012
ISSN: 2317-6423
DOI: 10.1590/s2237-93632012000100011