Hereditary haemorrhagic telangiectasis associated with hepatic artery aneurysm has only once been recorded in the literature (Graham, Eiseman, and Pryor, 1964). This case is reported because the concurrence of these conditions, together with gastric and duodenal ulcers, serves to illustrate difficulties in the management of a patient with a bleeding diathesis who has four possible causes of gas...

Data from 98 patients with hereditary haemorrhagic telangiectasia (HHT) are presented. All were symptomatic by 40 years of age and 62% by 16 years. Nose bleeding was the first symptom of disease in 90% of cases with mucocutaneous telangiectases appearing 5 to 20 years later. Complications of HHT are discussed and an age of onset curve given.

Diffuse cerebral arteriovenous malformation (AVM) is a rare disorder of the brain and defined as diffuse infiltration of brain by complex vascular structures. It is usually associated with hereditary syndromes and presented with hemorrhage or seizure. We report a 20-year-old male patient who presented with drooping of the left eyelid. He had no skin lesion. The ophthalmological examination was ...

Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this disorder and showed recurrent metabolic abnormalities associated with this disease but not due t...

The aim of the present study was to assess predictive factors for occurrence of idiopathic menorrhagia (IM), a disease characterized by abnormal endometrial blood vessel morphology. It was hypothesized that IM exhibits familial clustering (suggesting inheritance) and is associated with other vascular abnormalities, primarily cutaneous hemangiomas. Women with IM (n=152) and healthy, regularly me...

tuberous sclerosis complex (tsc) is an autosomal-dominant hereditary disorder. this syndrome is characterized by tumor-like malformations in several organs, as well as the heart. this report summarizes a case of tsc in a premature infant, born at 34 weeks' gestation with ascites. after birth, multiple cardiac mass, subependymal cysts and hypopigmented macules were detected. to our knowledge, th...

ectodermal dysplasia is a hereditary disorder associated with abnormal development of embryonic ectodermally-derived organs including teeth, nails, hair and sweat glands. hypodontia of the primary and permanent dentition is the most common oral finding. therefore, affected patients need dental prosthetic treatments during their developmental years. this report presents two cases of children aff...