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A young boy with deforming arthropathy
  1. R Handa,
  2. P Aggarwal,
  3. J P Wali
  1. Department of Medicine, All India Institute of Medical Sciences, New Delhi, India
  1. Dr R Handa, Rheumatology Division, Department of Medicine, All India Institute of Medical Sciences, New Delhi 110029, India.

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Case report

A 15 year old boy presented with a three year history of painless swelling of the proximal interphalangeal (PIP) joints of both the hands. The illness started at the age of 12 years without any history of preceding trauma or cold exposure. There was no fever, morning stiffness or pain. There was no limitation of hand functions like writing skills, grasping, etc. However, for the past six months, the patient had noticed flexion deformities of the little fingers, which could not be corrected. No other joints were involved. The patient was one of three children of a non-consanguinous marriage. None of the parents or other siblings had similar illness. The patient had been treated by his doctor for juvenile chronic arthritis with diclofenac sodium and low dose prednisone for six months without any improvement. General physical and systemic examinations were entirely normal. Joint examination showed firm swelling of the PIP joints. No erythema, local rise in temperature or tenderness were noted. The fingers showed flexion deformity. No shortening was apparent. Active and passive movements were normal except in the little fingers, which had a fixed deformity (fig 1 ) . All other joints of the hand and feet were normal.

Figure 1

Photograph of the hands. PIP joints are swollen and the fingers show flexion deformity.

Investigations showed haemoglobin 14.2 g/dl, leucocytes 6.1 × 109 /l ( neutrophils 70%, lymphocytes 25%, monocytes 3%, eosinophils 2%) and platelets 300 × 109/l. Westergren erythrocyte sedimentation rate (ESR) was 5 mm 1st h. Rheumatoid factor and antinuclear antibodies were negative. Antistreptolysin O titres were normal. Blood urea nitrogen, serum creatinine, serum proteins, aminotransferases were within normal limits. Urine analysis was normal. Hand radiographs showed irregularity of the proximal epiphyses of the second phalanx of right and left ring fingers with fusion of PIP joints of the little fingers. No erosions were noticed (fig 2). A diagnosis of Thiemann’s disease was considered and the patient reassured with withdrawal of all medications.

Figure 2

Radiograph of the hands showing epiphyseal irregularity of the second phalanx of right and left ring fingers. PIP joints of little fingers are fused.

Discussion

Thiemann’s disease or aseptic necrosis of the basal epiphyses of the phalanges of the fingers is a rare condition first described in 1909.1 The principal clinical manifestation is progressive enlargement of PIP joints of the hands, and of interphalangeal joints of the great toes and occasionally other toes, followed by slight flexion of the enlarged joints.2 The swelling is generally painless and pain, if present, is usually slight and often triggered by cold.3-5 The disease typically begins in the prepubertal age group and limitation of function is slight. Most often the disease is transmitted as an autosomal dominant disorder with virtual complete penetrance,3 4 although, sporadic cases are not infrequent.5 The familial disease shows equal sex distribution while sporadic cases show a threefold male dominance.5 6 Acute phase reactants like erythrocyte sedimentation rate are normal.

The proposed clinical criteria4 include onset before the age of 25 and swelling of PIP joints with normal laboratory tests. Radiological features include irregularity, flattening, fragmentation, and broadening of the basal epiphyses of the phalanges.3 5 7 These are later followed by joint space narrowing, premature epiphyseal fusion, and phalangeal shortening. In some cases, radiographic improvement may be seen because of resorption of bone fragments, but more frequent is the later development of interphalangeal joint osteoarthritis.5 Most often, the disease has a benign course and is not functionally disabling, although interphalangeal joint osteoarthritis may develop.

Thiemann’s disease is now thought to be one of the osteochondroses. Osteochondroses are a group of disorders that share certain features: predilection for the immature skeleton; involvement of an epiphysis, apophysis, or epiphysioid bone; a radiographic picture that is dominated by fragmentation, collapse, sclerosis and frequently reossification with reconstitution of the ossification contour.8 Osteochondroses characteristically affect children between the ages of 3 and 12 years and are much more common in boys than in girls. It is presumed that trauma, and in some instances, avascular necrosis unrelated to trauma are the pathogenetic mechanisms.9 The clinically important members of this heterogenous group of disorders include: Legg-Calve-Perthe’s disease, Kohler’s disease, Osgood-Schlatter’s disease, Thiemann’s disease, and Scheuermann’s disease.9

The most important differential diagnosis of Thiemann’s disease is from other inflammatory paediatric arthritides like juvenile chronic arthritis and systemic lupus erythematosus. Acute phase reactants are usually, but by no means invariably, raised in juvenile chronic arthritis while the articular involvement in systemic lupus erythematosus is usually non-deforming. The characteristic age of onset in Thiemann’s disease with painless bony enlargement of PIP joints without any redness or warmth, conspicuous lack of systemic features, and absence of acute phase reactants coupled with a benign course make clinical differentiation possible. Primary generalised osteoarthritis begins later in life and usually shows less symmetrical affection, without shortening of the phalanges.4 Other conditions that may mimic Thiemann’s disease like trauma, infection, thermal injury such as frostbite or burns, storage diseases, for example, mucolipidosis III, diabetic cheiroarthropathy, contractural arachnodactyly, etc, can be easily distinguished on clinical or radiological grounds5 10 11 (table 1). Awareness of this rare disease is important not only for greater clinical recognition but also avoidance of unnecessary treatment with anti-inflammatory or disease modifying agents.

Table 1

Hand deforming arthropathies in children

The lesson

  • Deforming arthropathies in children could be caused by juvenile chronic arthritis, systemic lupus erythematosus, trauma or thermal injury, diabetic cheiroarthropathy, storage diseases, contractural arachnodactyly, sickle cell disease, and Dupuytren’s contracture.

  • Painless swelling of PIP joints in adolescent children, with preserved function and normal erythrocyte sedimentation rate, should arouse suspicion of Thiemann’s disease.

References

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