Contribution of the Clinical and Histopathological Features in the Positive Diagnosis of the Juvenile Polyposis Syndrome

Juvenile Polyposis Syndrome (JPS) is a rare genetic disease characterized by the presence of the juvenile hamartomatous polyps.
The condition is caused by germline mutation in the BMPR1A or the SMAD4 genes and it is inherited in an autosomal dominant manner.
It predisposes affected persons to a high risk of malignant tumors, mainly colorectal and stomach cancers. The confi rmation of the
diagnosis is based on genetic analysis. But at fi rst, family history, pedigree, clinical criteria and histopathological analysis guide to an
inherited disease. We present here a Congolese patient with suggestive clinical and histopathological features which lead to the JPS.