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SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history
- Source :
- BMJ Case Rep
- Publication Year :
- 2020
- Publisher :
- BMJ Publishing Group, 2020.
-
Abstract
- Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.
- Subjects :
- Adult
Male
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Colon
medicine.medical_treatment
Helicobacter heilmannii
Case Report
Severity of Illness Index
Endoscopy, Gastrointestinal
03 medical and health sciences
0302 clinical medicine
Gastrectomy
Neoplastic Syndromes, Hereditary
otorhinolaryngologic diseases
medicine
Humans
Juvenile polyposis syndrome
Family history
Age of Onset
Intestinal Mucosa
Hereditary haemorrhagic telangiectasia
Smad4 Protein
Hyperplasia
Anemia, Iron-Deficiency
business.industry
Intestinal Polyposis
Intestinal Polyps
General Medicine
Iron deficiency
SMAD4 gene
medicine.disease
Dermatology
Pathophysiology
Gastric Mucosa
030220 oncology & carcinogenesis
Gastritis
Mutation
Hematinics
030211 gastroenterology & hepatology
Telangiectasia, Hereditary Hemorrhagic
Gastric mass
business
Tomography, X-Ray Computed
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- BMJ Case Rep
- Accession number :
- edsair.doi.dedup.....7400101137bafabb4c058dd2c77000aa