Inflammatory variant of pachydermoperiostosis responding to methotrexate: a report of two cases

Abstract

Pachydermoperiostosis is a rare genetic disorder characterized by skin thickening, digital clubbing and periostitis. The pathogenesis is incompletely understood and there are no proven treatments for its manifestations. Although arthritis has been reported in 20–40% cases, most are non-inflammatory in nature and usually treated symptomatically with steroids or NSAIDs. We report two cases of pachydermoperiostosis with inflammatory variant of arthritis and raised inflammatory markers who were treated with tapering dose of prednisolone for 6 weeks and maintained on long-term low dose methotrexate like rheumatoid arthritis and followed for 2 years. In both cases, methotrexate was well tolerated and helped in maintaining symptomatic improvement and slowed the disease progression with significant steroid and NSAID sparing effect. We concluded that there exists an inflammatory subtype of disease where methotrexate can be beneficial.

Pachydermoperiostosis Mimicking Inflammatory Arthritis: Case Description and Narrative Review

“…In a severe case, a TNF-α (tumor necrosis factor-alpha) blocking agent, infliximab, has been successfully applied [32], but use of TNF-α blockers is generally not indicated. The use of methotrexate (MTX) has been described in two PDP cases with severe arthritis, with a corticosteroid and NSAID sparing effect [33].…”

Klinische, diagnostische und therapeutische Aspekte der Pachydermoperiostose (PDP): Ein Fallbericht

“…Laborchemische Entzündungsparameter können unauffällig oder gering erhöht sein. In Einzelfällen sind arthritische Verlaufsformen mit signifikant erhöhten Entzündungsparamtern beschrieben [11]. Die bekannten immunologischen Parameter sind unauffällig.…”

“…In Einzelfällen ist ein positiver Effekt von oralem Aescin, Zoledronat sowie arthroskopischer Synovektomie beschrieben [16]. Ebenfalls in Einzelfällen ist die Gabe von Methotrexat oder Infliximab als wirksam berichtet worden [11,17].…”

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

“…Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare autosomal dominant disease characterized by primary clinical features of pachydermia (thickening of skin) and periostosis (new bone formation) and is also known as primary PDP and Touraine-Solente-Gole syndrome. This condition was first described by Friedrich in 1868 and called “hyperostosis of the entire skeleton” [ 1 – 3 ]. In 1907, Unna termed this disease “cutis verticis gyrate” because of the thick, transversely folded skin of the scalp and the forehead [ 4 ].…”