cartilage hair hypoplasia (chh), is a rare cause of metaphyseal chondrodysplasia and short stature. other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (hirschsprung disease, celiac, …) and increased risk of cancer. the disease is an autosomal recessive disorder and previously has not been reported in iran. we report a 9-year-old boy diagnosed as carti...

Background and aim: New modalities in the treatment of end-stage renal disease (ESRD) patients have increased their life expectancy and quality of life. A wide range of cutaneous manifestations are seen in ESRD patients. This study was conducted to determine the prevalence of cutaneous manifestations in ESRD patients on maintenance hemodialysis in the dialysis department of Imam Khomeini ...

background and objective: cystinosis is a rare inherited disease that leads to renal failure. fanconi syndrome is the major renal involvement in cystinosis patients. renal transplantation is the treatment of choice in cystinosis children with end-stage renal disease (esrd).  the study aimed to assess the outcome of renal transplantation in iranian children with cystinosis. methods: this retrosp...

Background and Objective: Cystinosis is a rare inherited disease that leads to renal failure. Fanconi syndrome is the major renal involvement in cystinosis patients. Renal transplantation is the treatment of choice in cystinosis children with end-stage renal disease (ESRD).  The study aimed to assess the outcome of renal transplantation in Iranian children with cystinosis. Methods: This...

Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...