Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.
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.
Mazaheri
Parisa
P
The Johns Hopkins University School of Medicine, Division of Hematology, Baltimore, Maryland, USA.
Nadkarni
Girish
G
Lowe
Elizabeth
E
Hines
Patrick
P
Vuica
Melena
M
Griffin
Matthew
M
Resar
Linda M S
LM
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
D000893:Anti-Inflammatory Agents; D011241:Prednisone