Pachydermoperiostosis: a case report of initial improvement with etoricoxib

Abstract

Introduction and importance: Pachydermoperiostosis is a syndrome characterised by the triad of pachydermia, digital clubbing and periostosis of long bones and its scarce incidence and similarity in clinical features with acromegaly makes the diagnosis challenging. The elevated PGE2 levels have been hypothesised as one of its mechanisms and therapies have been targeted to inhibit this prostaglandin. Case presentation: A 25-year-old man with no comorbidities presented to OPD with 10-year history of bilateral pain and swelling of hands and feets associated with hyperhidrosis, grade IV clubbing and marked skin thickening on his forehead. X-ray revealed hyperostosis of metacarpals, proximal and middle phalanges and periosteal bone formation with cortical thickening of ankle joint. Tests done to rule out differentials such as thyroid acropachy, acromegaly, psoriatic arthritis were normal and clinical diagnosis of pachydermoperiostosis, a rare genetic disease characterised by pachyderma, digital clubbing, and periostosis was made. Clinical discussion: The patient was managed conservatively with Etoricoxib for six months on a follow-up basis. The symptoms were improving and a repeat X-ray showed partial improvement of soft tissue thickening and periostosis. Conclusion: Pachydermoperiostosis is a rare diagnosis with no clear consensus on management approach. Its management with selective COX-2 inhibitors such as Etoricoxib should be considered but its long term effects should be studied further.

Pachydermoperiostosis Presenting With End-Stage Kidney Disease

“…PDP, historically known as Touraine-Solente-Golé syndrome or primary hypertrophic osteoarthropathy, is an exceptionally rare medical condition that manifests primarily through digital clubbing, periostosis of tubular bones, and pachydermia. Secondary symptoms may include excessive sweating (hyperhidrosis), joint pain (arthralgia), gastric ulcers, thickened scalp skin (cutis verticis gyrata), drooping eyelids (blepharoptosis), joint fluid buildup, column-like legs, oily skin (seborrhea), and acne [ 4 , 5 ].…”

“…The precise etiology of PDP is not completely understood. Nevertheless, the condition has been associated with the chromosomal region 4q33-q34, and mutations in the HPGD gene, which codes for 15-hydroxyprostaglandin dehydrogenase, an enzyme crucial for the breakdown of prostaglandins, have been identified as a contributing factor [ 4 ].…”