title: Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.
abstract: Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare clinical syndrome characterized by increased bone density and a severe, myelophthisic anemia. Few cases have been reported worldwide and there are no detailed descriptions of the associated hematologic abnormalities and long-term clinical outcomes after treatment. Here, we report two siblings with GHDD who were successfully treated with chronic, low dose, corticosteroid therapy. Although GHDD is uncommon, these cases illustrate the need to consider GHDD in patients with anemia and bone dysplasia and the use of chronic, low-dose steroid therapy.
authors.affiliation: The Johns Hopkins University School of Medicine, Division of Hematology, Baltimore, Maryland, USA.
authors.forename: Parisa
authors.initials: P
authors.lastname: Mazaheri
authors.forename: Girish
authors.initials: G
authors.lastname: Nadkarni
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Lowe
authors.forename: Patrick
authors.initials: P
authors.lastname: Hines
authors.forename: Melena
authors.initials: M
authors.lastname: Vuica
authors.forename: Matthew
authors.initials: M
authors.lastname: Griffin
authors.forename: Linda M S
authors.initials: LM
authors.lastname: Resar
mesh_terms: D000328:Adult; D000750:Anemia, Myelophthisic / Q000188:drug therapy / Q000209:etiology*; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use*; D003966:Camurati-Engelmann Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011241:Prednisone / Q000627:therapeutic use*; D035781:Siblings; D016896:Treatment Outcome
chemical_list: D000893:Anti-Inflammatory Agents; D011241:Prednisone