Primary Hypertrophic Osteoarthropathy With Myelofibrosis.
| Autor: | Yousaf M; Clinical Hematology, Armed Forces Bone Marrow Transplant Center, Rawalpindi, PAK., Khan R; Clinical Hematology, Armed Forces Bone Marrow Transplant center, Rawalpindi, PAK., Akram Z; Hematology, Armed Forces Bone Marrow Transplant Center, Rawalpindi, PAK., Chaudhry QU; Hematology, Armed Forces Bone Marrow Transplant Center, Rawalpindi, PAK., Iftikhar R; Hematology and Oncology, Armed Forces Bone Marrow Transplant Center, Rawalpindi, PAK. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2022 Oct 09; Vol. 14 (10), pp. e30108. Date of Electronic Publication: 2022 Oct 09 (Print Publication: 2022). |
| DOI: | 10.7759/cureus.30108 |
| Abstrakt: | Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive inherited multi-system disorder characterized by a triad of pachydermia, periostosis, and clubbing. PHO was revealed to be caused by the HPGD gene producing 15-prostaglandin dehydrogenase and the SLCO2A1 gene expressing one kind of prostaglandin transporter. It is primarily a benign disorder, but coexisting myelofibrosis can lead to clinically significant cytopenias. In this case report, we present the case of a 21-year-old boy with a history of transfusion-dependent anemia and a progressive increase in transfusion requirements over the course of seven years. On basis of the patient's medical history, family history, and clinical examination genetic testing was done. The patient was found to have homozygous c.664G>A (p. Gly222Arg) mutation in the SLCO2A1 gene; confirming the diagnosis of PHO. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2022, Yousaf et al.) |
| Databáze: | MEDLINE |
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