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A survey of phenotypic features in juvenile polyposis
D C Desai1, V Murday, R K Phillips
1Polyposis Registry, St Mark's Hospital, Harrow, Middlesex, UK.
Insights
Juvenile polyposis (JP) often presents with extracolonic abnormalities, aiding in the diagnosis of associated genetic syndromes. These findings highlight the importance of comprehensive evaluation for patients with juvenile polyposis.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Solitary juvenile polyps are common in children.
- Juvenile polyposis (JP) is a rare autosomal dominant disorder with numerous gastrointestinal polyps.
- Extracolonic abnormalities are known in other polyposis syndromes but not well-defined in JP.
Purpose of the Study:
- To identify consistent extracolonic phenotypic abnormalities in juvenile polyposis patients.
- To determine the frequency with which these abnormalities suggest associated genetic syndromes.
Main Methods:
- Clinical examination of 22 juvenile polyposis patients.
- Radiological investigations (skull, chest, hands) and echocardiograms for consenting patients.
- Data review for one additional patient.
Main Results:
- 18 of 22 patients exhibited significant extracolonic abnormalities.
- Commonly observed abnormalities included dermatological (13) and skeletal (16) features.
- Five patients were diagnosed with genetic syndromes: Bannayan-Riley-Ruvalcaba (2), Gorlin (2), and hereditary hemorrhagic telangiectasia (1).
Conclusions:
- Juvenile polyposis patients frequently present with extracolonic manifestations.
- These abnormalities can facilitate the diagnosis of associated genetic syndromes like Bannayan-Riley-Ruvalcaba, Gorlin, and HHT.
- Comprehensive evaluation is crucial for diagnosing genetic syndromes in JP patients.
Abstract:
Solitary juvenile polyps are quite frequent in children, but juvenile polyposis (JP) is a rare autosomal dominant trait characterised by the occurrence of numerous polyps in the gastrointestinal tract. Extracolonic phenotypic abnormalities are well documented in patients with familial adenomatous polyposis and Peutz-Jeghers syndrome and can allow a clinical diagnosis to be made before the bowel pathology becomes available. Though described, characteristic extracolonic abnormalities have not been clearly defined in juvenile polyposis. We sought to determine whether there are consistent extracolonic phenotypic abnormalities in JP patients and how frequently this would allow diagnosis of one of the genetic syndromes known to be associated with juvenile polyposis. Twenty-two JP patients underwent clinical examination and data from one patient were obtained from case notes. Those consenting to further investigations had x rays of the skull, chest, and hands and an echocardiogram if clinically indicated. Significant extracolonic phenotypic abnormalities were present in 18 patients (14 male and four female), and included dermatological (13), skeletal (16), neurological (5), cardiopulmonary (4), gastrointestinal (3), genitourinary (4), and ocular (1) features. In five patients the diagnosis of a genetic syndrome was possible: two had Bannayan-Riley-Ruvalcaba syndrome, two had Gorlin syndrome, and one had hereditary haemorrhagic telangiectasia (HHT, also known as Osler-Rendu-Weber syndrome). Other patients had some features of these conditions and of Cowden and Simpson-Golabi-Behmel syndromes, but these were not sufficient to allow a definitive diagnosis.