Primary Hypertrophic Osteoarthropathy With Myelofibrosis

Abstract

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.

Pachydermoperiostosis (PDP) with bilateral ptosis and its associated systemic comorbidities: a rare case report

“…Our case had significant cutis verticis gyrate of his forehead compared to other published cases [ 6 - 8 ]. His clinical features were in keeping with primary hypertrophic osteoarthropathy with enlarged diaphysis, increased bone density, and periosteal proliferation on X-rays [ 7 - 9 ]. Our case had a spiculated appearance of his bones, not previously described.…”