Hereditary benign Telangiectasia: Report of 6 cases in a family

A case of benign hereditary telangiectasia without family history*

Dear Edito, A 60-year-old white female patient sought treatment for asymptomatic erythematous-telangiectasia macules on her upper limbs, back, abdomen, thighs, neck, and lips (Figures 1 and 2). The condition started at 7 years of age. Her lower limbs showed no skin alterations, and she never developed mucosal nor visceral bleeding. Darier’s sign was negative. She suffered from hypertension and ...

Hereditary benign telangiectasia?

Hereditary benign telangiectasia--first family in Northern Ireland.

Hereditary benign telangiectasia (HBT), first described in 1971,1 is a rare autosomal dominant disorder.2' 3, 4 It is characterised by widespread telangiectases which may be punctate, plaquelike, radiating or merely a diffuse blush. The lesions generally are observed before adolescence, and rarely during the first year of life.5 It is important to recognise HBT as it may only cause cosmetic dis...

Cerebral abscess in hereditary haemorrhagic telangiectasia: report of two cases in a family.

Pseudoxanthoma Elasticum: A Report of Three Cases in a Family

Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch’s membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons.

Report of Two Cases of Bembay Phenotype in a Family

This is a report about two sisters whose red cells were grouped as 0, but their father was grouped as AB and their mother was groupe as O. These two sisters were Bombay phenotype it means they were homozygous for and inactive allele (amorph) H. When H is not formed the enzymes determined by A and B genes have no substrate on which to act, so that hh persons can not make the A or B antigen if th...