Juvenile Idiopathic Arthritis (JIA) is a heterogeneous group of diseases that is characterized by presenting arthritis of unknown etiology before 16 years of age and includes the systemic, oligoarticular and polyarticular with positive and negative rheumatoid factor (RF) types.1 Persistent joint inflammation in these diseases may eventually lead to premature skeletal maturation and this, in time, originate a discrepancy in extremities, small vertebral bodies, deviation of the tibio-astragalus joint and Madelung's deformity of the carpus.2

We report the case of a 34-year-old male diagnosed with RF positive polyarticular JIA at 15 months of age, based on symmetric polyarthritis affecting elbows, wrists, metacarpophalangeal and proximal interphalangeal joints on the hands, as well as the knees, ankles and metatarsophalangeal joints and subcutaneous nodules, positive for RF (353IU/ml) and elevated acute phase reactants (erythrocyte sedimentation rate of 45mm/h, C-reactive protein 6.5mg/l). He had no other relevant family or personal history. He was treated with nonsteroidal antiinflammatory drugs, systemic and intra-articular corticosteroids, gold salts and methotrexate but, despite this, the disease remained active with persistent synovitis of both wrists, developing bilateral subluxation at that level and limitation of dorsiflexion and supination. Radiographs of both wrists showed shortening of the medial distal radius, exaggeration of the radial tilt and proximal migration of the bones of the first row of the carpus, adopting a V shape between the radius and ulna, consistent with Madelung's deformity (Fig. 1). The patient also developed “trigger fingers” in both hands and bilateral hallux valgus. At age 24, he began treatment with etanercept, achieving control of disease activity. Currently no synovitis of the wrists is present, but the limited movement persists, though it does not prevent him from carrying out his usual activities.

Fig. 1.

Anteroposterior X-rays of the left (A) and right carpus (B) showing bilateral Madelung's deformity.

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Madelung's deformity is a rare congenital disorder characterized by asymmetric carpal growth and curvature of the distal radial physis, resulting in a decrease in grip force of the hand. The common mechanism in Madelung's deformity is a premature closure of the epiphyseal growth cartilage in the medial and anterior portion of the distal palmar radius. This results in a shortening of the radius and, therefore, an apparent ulnar overgrowth. It is frequently associated with genetic syndromes such as Leri-Weill dyschondrosteosis and Turner's syndrome.3 Alterations similar to those produced in congenital Madelung's deformity have been described in other disorders, including trauma, tumors, infections, endocrine disorders and generalized skeletal dysplasias.3–5 The deformity may also occur in patients with the acquired form related to JIA because early skeletal maturation induced by joint inflammation can cause early closure of the carpal physis.2,6 There have been 2 cases of severe Madelung's deformity in patients with RF negative polyarticular JIA who also had Turner's syndrome,7 but in our case there was no evidence of another associated genetic syndrome.

Among the clinical and radiological characteristics of Madelung's deformity, dorsal and medial curvature of the distal radius, an increase in the inclination of the joint surface of the distal radius, the triangulation of the carpus with proximal migration and volar migration of the semilunar bone, as well as the prominent ulnar head, are common.8 This deformity is typically present bilaterally and manifested before 20 years of age. Patients have a limited pronation and supination of the affected carpus.3,5 Severe cases develop progressive osteoarthritis and instability of the distal radioulnar joint, radiocarpal osteoarthritis and may complicate with rupture of the extensor tendons of the fingers.3

There are no specific guidelines for the treatment of this deformity and it is initially conservative, postponing surgical correction until skeletal maturity is achieved. Several techniques have been described for the correction of Madelung's deformity, but no clear evidence exists that supports the specific use of any of them. Common indications for surgery are pain, limitation in mobility and esthetic concerns.3

In conclusion, acquired Madelung's deformity may occur as a complication of JIA, worsening the functional capacity even more in these patients, making it important to consider it in the patient's clinical and radiological evaluation.