Ghosal hematodiaphyseal dysplasia—a concise review including an illustrative patient

Abstract

Ghosal hematodiaphyseal dysplasia is a rare autosomal recessive disorder characterized by metadiaphyseal dysplasia of long bones and defective hematopoiesis due to fibrosis or sclerosis of bone marrow. Approximately 15 cases of this entity have been reported in the literature so far. The diagnosis of this rare syndrome and its differentiation from other sclerosing bone disorders is important as correct diagnosis helps in treatment with corticosteroids, leading to considerable improvement in anemia and bony changes, negating the need for blood transfusions. We review the literature for this uncommon disorder and also present a similar case in a 21-year-old female who remained undiagnosed until this age because of unfamiliarity of clinicians with the condition.