Type II primary hypertrophic osteoarthropathy pedigree: a case report and review of the literature

Primary hypertrophic osteoarthropathy (PHO) is a rare disease that is characterized by benign hyperplasia of long bones and digital clubbing. Solute carrier organic anion transporter family member 2A1 (SCLA2A1) gene was recently discovered to be one of the pathogenic genes of PHO, resulting in a relatively latent onset type of the disease. Here we present a 19-year-old male patient, whose major complaint was 3-year history of clubbing of fingers and toes. The elder brother of the patient experienced similar symptoms at the same age, and relieved without treatment at the age of 26. The search for a secondary cause of hypertrophic osteoarthropathy remained negative. Genetic examination confirmed a heterozygous mutation on SCLA2A1 gene, indicating the diagnosis of PHO.