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.

Figure 1:

Case1 showing thickening of forehead and cheek skin.

Figure 2:

Digital clubbing and finger enlargement.

Figure 3:

USG of knee joint of case 1 showing marked synovial hypertrophy (arrow) with positive Doppler activity and effusion.

Figure 4:

X-ray showing periosteal bone growth.

Figure 5:

Follow-up photos of same patient after 2 years.

Figure 6:

Follow-up of same patient after 2 years (hands) showing same findings with slightly.

Figure 7:

Case 2 (cutis verticis gyrate, blepharoptosis and facial furrowing).

Figure 8:

Hand enlargement of second case (pachydermia, clubbing, enlargement).

Figure 9:

X-ray hands of second case (cortical thickening with periosteal bone formation in proximal phalange).

Figure 10:

X-ray of long bones of case 2 (cortical thickening with tibial periosteal bone formation).

Figure 11:

Ultrasonology of wrist joint of case 2 showing synovial hypertrophy (arrow) with marked Doppler activity.