Primary hypertrophic osteoarthropathy: genetics, clinical features and management

Abstract

Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 levels. The identification of the causative genes has provided a better understanding of the underlying mechanisms. PHO can be divided into three subtypes according to its pathogenic gene and inheritance patterns. The onset age, sex ratio and clinical features differ among subtypes. The synthesis and signaling pathways of PGE2 are outlined in this review. Cyclooxygenase-2 (COX-2) is the key enzyme that acts as the rate-limiting step for prostaglandin production, thus COX-2 inhibitors have been used to treat this disease. Although this treatment showed effective results, it has side effects that restrain its use. Here, we reviewed the genetics, clinical features, differential diagnosis and current treatment options of PHO according to our many years of clinical research on the disease. We also discussed probable treatment that may be an option in the future.

Complete pachydermoperiostosis: A case report

“…PDP, previously referred to as Touraine-Solente-Gole syndrome or primary hypertrophic osteoarthropathy, is an extremely uncommon medical condition characterised by a trio of distinctive features: digital clubbing, periostosis of tubular bones and pachydermia [1]. Other minor features include hyperhidrosis, arthralgia, gastric ulcer, cutis verticis gyrate, blepharoptosis, joint effusion, column-like legs, seborrhea and acne [9].…”

“…PDP may be differentiated from acromegaly based on clinical features and laboratory results. Unlike those suffering from PDP, patients with acromegaly tend to have enlarged bones of the face, skull, and limbs in addition to jaw prognathism [1]. Higher levels of IGF-1 and a positive oral glucose tolerance test are indicative of acromegaly [18].…”

“…Pachydermoperiostosis (PDP) is a very rare genetically determined condition characterized by skin thickening (pachyderma), finger clubbing, hyperhidrosis, and extremity enlargement secondary to overproduction of bone tissue (periostosis) [1]. This condition is postulated to be associated with mutations in two genes: the hydroxyprostaglandin dehydrogenase (HGPD) gene [2] and the solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene [3,4].…”

Comprehensive Treatment of a Rare Case of Complete Primary Pachydermoperiostosis with Large Facial Keloid Scars: A Case Report and Literature Review

“…In 1935, three French dermatologists, Touraine et al [5], recognized this condition as a familial disorder with three forms: complete (periostosis and pachyderma), incomplete (without pachyderma), and the forme fruste (pachydermia with minimal skeletal changes) [2]. PDP is reportedly related to mutations in the HPGD (encoding 15-hydroxyprostaglandin dehydrogenase) or SLCO2A1 (encoding solute carrier organic anion transporter family member 2A1) genes [6][7][8][9][10], which lead to impaired prostaglandin E2 degradation, thus elevating prostaglandin E2 levels [11]. However, the other causes of PDP are still unclear.…”