Rheumatoid arthritis in a patient with bilateral congenital aplasia of the thumbs.

Abstract

Because congenital hypoplasia of the thumb represents 3.5% of all malformations of the upper limb, it is included in the category of malformations of the upper limb of group 5 (1). There may be a slight hypoplasia (type 1) to a total absence of the thumb (type 5) (2). This defect can be isolated or associated with other anomalies as part of a poly-malformation syndrome. Our patient, is 54 year-old, presented with seropositive rheumatoid arthritis that developed 2 years ago. Symptoms include pain, stiffness, swelling, and limited motion and function of many joints, especially, the small joints in the hands and feet. The laboratory workup revealed elevated erythrocyte sedimentation rate and C-reactive protein levels. The immunological test revealed positive rheumatoid factor and anti-citrullinated protein antibodies. The radiograph of the hands demonstrated juxta-articular osteopenia, loss of joint space, and erosions of the proximal and distal interphalangeal joints compatible with rheumatoid arthritis. The rest of the clinical examination found bilateral congenital aplasia isolated of type 5 from both thumbs. The patient’s karyotype showed no chromosomal instability. Written informed consent was obtained from the patient for the publication of the case (Figure 1, 2).