Primary Hypertrophic Osteoarthropathy With Myelofibrosis

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 ki...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2022-10, Vol.14 (10)
Main Authors: Yousaf, Muhammad, Khan, Rubina, Akram, Zaineb, Chaudhry, Qammar U, Iftikhar, Raheel
Format: Article
Language:English
Subjects:
Anemia
Armed forces
Asymptomatic
Blood
Bone marrow
Case reports
Genes
Genetics
Hematology
Mutation
Patients
Stem cell transplantation
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.30108