Zahra Fazel

[ 1 ] - H Syndrome Masquerade as Rheumatologic Disease

Background  H syndrome is an autosomal recessive genodermatosis with a low prevalence which is caused by a mutation in SLC29A3 gene. This disorder is characterized by sclerotic, hyperpigmented, hypertrichotic cutaneous plaques with systemic involvement including: hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycemia. Case Presentation  Here we have pres...