Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the ...

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and brain. Its diagnosis is based on the Curaçao criteria, and is considered d...

Blue Rubber Bleb Nevus Syndrome is a rare disorder that is characterizedby multiple recurrent vascular malformations of skin and gastrointestinal tract.The affected patients may present with diverse manifestations including irondeficiency anemia. We report this syndrome in a 22-year-old man that was referred to our hospitalfor iron deficiency anemia with unknown cause and vascular malformations...

Because of the difficulty often encountered in deciding whether a patient's symptoms originate in the upper or lower gastrointestinal tract, gastrointestinal transit scintigraphy is a uniquely suited noninvasive, quantitative, and physiologic method of determining whether there is a motility disorder affecting the stomach, small bowel, or colon. Small-bowel and colon transit studies can be perf...

Food protein induced enterocolitis syndrome (FPIES) is a food-related non-IgE-mediated gastrointestinal hypersensitivity disorder. Atypical FPIES is characterized by the presence of specific IgE for the causative food. The guidelines suggested for diagnostic oral food challenge in pediatric patients affected by suspected FPIES are different from the ones for children with IgE-mediated food alle...

Germline mutations in LKB1 cause the rare cancer prone disorder Peutz-Jeghers syndrome (PJS). Gastrointestinal hamartomatous polyps constitute the major phenotypic trait in PJS. Hamartomatous polyps arising in PJS patients are generally considered to lack premalignant potential although rare neoplastic changes in these polyps and an increased gastrointestinal cancer risk in PJS are well documen...

Clostridium difficile infection (CDI) is the most common cause of hospital-acquired diarrhea. A limited number of studies have looked at the risk factors for recurrent CDI. Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) is a rare multisystemic disorder that causes gastrointestinal dysmotility. Herein we present a patient with MNGIE who suffered recurrent and severe C. difficile infe...

autoerythrocyte sensitization syndrome cabs) is a rare purpuric disorder of women characterized by inflammatory and painful ecchymotic lesions unrelated to blood clotting or vascular abnormalities. gastrointestinal bleeding, hematuria, headache or syncopal attacks may also be observed. our patient is a 33-year-old woman presenting with recurrent severe painful ecchymotic lesions on both lower e...

Irritable bowel syndrome is a highly prevalent gastrointestinal disorder that threatens the quality of life of millions and poses a substantial financial burden on healthcare systems around the world. Intense research into the human microbiome has led to fascinating discoveries which directly and indirectly implicate the diversity and function of this occult organ in irritable bowel syndrome (I...

BACKGROUND Type 1 neurofibromatosis (NF-1) is an autosomal dominant disorder with variable penetrance; approximately 50% of cases present as new mutations CASE REPORT We report a case of a 56 year-old man with Von Recklinghausen's disease, carcinoma of the ampulla of Vater and incidental benign gastrointestinal stromal tumours of the jejunum. CONCLUSIONS Coexistence between ampullary carcin...