An Adolescent with Deforming Osteoarthropathy of the Fingers

The authors report a 15-year-old Caucasian female, presenting with a one-year history of bilateral fusiform swelling of the proximal interphalangeal (PIP) joints. No other joints were involved, no other clinical symptoms described. The swelling was initially painless, but after two months she started to develop transient episodes of increased swelling of the PIP joints, with limitation of finger mobility, tenderness and pain associated with finger movements, without an identifiable trigger. During these exacerbation episodes, symptomatic therapy using NSAID’s had little effect.

The past medical history of the patient included a traumatic fracture of the proximal phalanx base of the right hand, three years prior to the initial symptoms. The patient has four siblings, one of which has been described with similar PIP joint swelling, but because our patient is adopted, further details are absent. Blood tests were normal (including markers of acute inflammation C-reactive protein and erythrocyte sedimentation rate, rheumatoid factor, antinuclear antibodies and anti-neutrophil cytoplasmic antibody); radiography revealed soft-tissue enlargement of the PIP joints, without irregularities of the phalangeal epiphyses.

The clinical features and positive family history point to the diagnosis of Thiemann’s disease - a rare familial juvenile osteochondrosis of the phalangeal epiphyses, a form of idiopathic avascular necrosis, transmitted in an autosomal dominant pattern. Diagnostic features include onset before the age of twenty-five and swelling of PIP joints, with normal laboratory tests; radiographs aid diagnosis if typical changes are present. Role of trauma is undetermined.

Clinicians should be aware of this rare disorder which might be evocative of other forms of arthritis, not only for greater clinical recognition but also avoidance of unnecessary treatments - this disease has a benign course, most patients are asymptomatic after growth-plate closure.