UNLABELLED Vascular complications related to multiple hereditary exostoses are uncommon. We present a 39-year-old male patient with multiple exostoses in the upper and lower limbs with an associated positive familial history of such lesions. He experienced a sudden onset of left-side ataxia and hypoesthesia secondary to a left lateral medullary infarction, which was due to a stenotic-pattern ve...

background: neonates affected by hereditary spherocytosis may suffer from significant jaundice. this study was conducted on neonates with jaundice hospitalized at the children’s hospital in bandar abbas, south iran, to determine the frequency of hereditary spherocytosis among them. patients and methods: in this cross-sectional study, 814 neonates with jaundice hospitalized at the children’s hos...

Hereditary multiple osteochondroma (HMO) is an autosomal dominant genetic disorder characterized by multiple outgrowing bony tumors capped by cartilage, generally affecting the metaphyses. The disease is known as hereditary multiple exostoses, familial exostosis, multiple cartilaginous exostoses or hereditary malformation of cartilage. The prevalence of HMO in Europe and the Unites States is ~1...

It has been reported that patients with hereditary multiple exostoses (called multiple osteochondromatosis by the World Health Organization) are at increased risk for malignant transformation of osteochondromas to secondary chondrosarcomas. A review of the literature found 14 cases showing transformation of osteochondromas into osteosarcomas; however, Ewing sarcoma has never been reported super...

There are several hereditary diseases that are a predisposition to early-onset tumors. These include syndromic conditions like neurofibromatosis 1 and 2, von Hippel-Lindau syndrome, Gorlin syndrome, multiple endocrine neoplasia, and familial adenomatous polyposis; and conditions which are usually not possible to diagnose clinically in a single individual, such as Lynch syndrome and BRCA1/2. Und...

Aproximately 5-10% of neuroendocrine tumours (NETs) of the gastroenteropancreatic system (GEP) have an hereditary background. The known hereditary syndromes include: multiple endocrine neoplasia type 1 (MEN 1), von Hippel Lindau disease (VHL), neurofibromatosis type 1 (NF 1) and tuberous sclerosis complex (TSC). This review discusses for each of these syndromes the: genes involved and specifics...

Primary of hereditary lymphedema is a rare but progressive disease. It is yet not curable. We present a 48-year-old male patient with hereditary lymphedema of his left leg, that was realised by minor trauma (able twist) when he was seven years old. He had never been treated for lymphedema but experienced multiple erysipelas during his life. After diagnostic procedures to exclude other causes of...

S June 4th – 6th, 2006 Hotel Jerome Aspen, Colorado Progress: From Bench to Bedside Platform & Poster Presentations