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- Title
Case report: Ghosal hematodiaphyseal dysplasia—A rare cause of skeletal dysplasia and cytopenia.
- Authors
Ong, Swee Gaik; Ding, Hui Jen; Chan, Mei Yan; Loh, Weng Khean; Mahmood, Maizatul Jamny
- Abstract
This article presents a case report of a 22-year-old Indian man who was referred to a rheumatologist for evaluation of ankle pain. The patient had a history of intermittent ankle pain and swelling, as well as bony enlargement of the left ankle and knock knee deformity. Further examination and testing revealed skeletal dysplasia, cytopenia, and a homozygous pathogenic variant in the TBXAS1 gene, confirming a diagnosis of Ghosal hematodiaphyseal dysplasia (GHDD). The patient was treated with danazol, which resulted in improved blood counts. GHDD is a rare autosomal recessive disorder characterized by skeletal abnormalities and hematological abnormalities, and this case highlights the importance of considering GHDD in patients with diaphyseal dysplasia and childhood-onset cytopenia.
- Subjects
SKELETAL dysplasia; CYTOPENIA; DYSPLASIA; MYELOFIBROSIS; PAROXYSMAL hemoglobinuria; BONE marrow examination
- Publication
International Journal of Rheumatic Diseases, 2024, Vol 27, Issue 6, p1
- ISSN
1756-1841
- Publication type
Article
- DOI
10.1111/1756-185X.15220