Hereditary benign telangiectasia is an uncommon idiopathic skin disorder characterized by generalized telangiectases and angiomatous lesions of the skin. The diagnosis should be suspected in patients with such cutaneous lesions, positive family history, no associated bleeding problems, and no mucosal involvement. We present six cases of hereditary benign telangiectasia in three generations of o...

coexisting ankylosing spondylitis and hereditary multiple exostoses have rarely been reported (three patients) previously. a 27-year-old man with hereditary multiple exostoses is presented as a fourth report. at the age of 15 years, the patient had multiple exostoses around the knee, ankle and shoulder joints. he was diagnosed with ankylosing spondylitis 3 years ago. the patient’s sister and hi...

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...

the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...

congenital cutis laxa is an exceptional condition. no large scale pedigree has been reported from iran. we report a family with 106 members with two members affected with cutis laxa. our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. their famil...

purpose: to evaluate the clinical manifestations and results of lensectomy in patients with hereditary lens subluxation at labbafinejad medical center, tehran-iran from 1996 t 2003. method: in an interventional case series, records of patients with hereditary lens subluxation who had undergone lensectomy were reviewed. patients with at least 6 months of follow up were included. background disea...

alport syndrome is a progressive hereditary nephritis leading to renal failure. nearly all of the documents declare that alport syndrome is inherited as x-linked dominant trait and reports of autosomal inheritance form is very rare. this paper presents an iranian large alport family with autosomal recessive inheritance. in our patients alport disease was confirmed with electron microscopic stud...