Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis.

A number of factors contribute to the pathogenesis of osteoarthritis. Genetic factors are predominant in some cases, including the syndrome of hereditary arthro-ophthalmopathy. The clinical features of the syndrome and the concept of genetic mutations in matrix components are discussed.

An unusual case of peri-articular soft tissue finger swelling in an adolescent male: pachydermodactyly or pachydermoperiostosis?

Benign soft tissue swelling affecting the interphalangeal joints can sometimes be misdiagnosed as an arthropathy. Garrods fatty pads (knuckle pad syndrome) is a relatively common and harmless condition characterized by discrete fibromatous skin pads over the dorsum of the interphalangeal joints. We describe a case which clinically resembles the rare but benign condition of pachydermodactyly with some pathological features of the distinct syndrome of pachydermoperiostosis. The possibility of an overlap syndrome is discussed.

First attack of rheumatic fever in an adult: the case for greater awareness.

A 40 year old white woman presenting with rash, fever, and migratory polyarthralgia developed a symmetrical polyarthropathy and remained unwell for 10 weeks. Fulfilment of the revised Jones criteria reinforced the clinical diagnosis of rheumatic fever. Antistreptococcal antibodies peaked four to six weeks into the illness and declined thereafter.

Manubriosternal joint dislocation in rheumatoid arthritis: the role of thoracic kyphosis.

A case report of manubriosternal joint (MSJ) dislocation in a rheumatoid patient with thoracic kyphosis is presented together with a review of the relevant literature. Variations in the anatomical nature of the MSJ between normal individuals are described. In 43% of the population its characteristics are noted to be such that it may be involved in rheumatoid arthritis (RA). A joint thus involved can be dislocated by forces generated by longstanding thoracic kyphosis and transmitted to the manubrium via the first rib. Xeroradiographs of the MSJ region in our patient showed dislocation of the joint in the upright position and its subsequent reduction on lying the patient flat. We suggest that this demonstrated reduction is secondary to the lessening of the thoracic kyphosis that occurs in the supine position. It is concluded that in RA MSJ dislocation is a function of thoracic kyphosis.

Haematuria occurring during antirheumatoid therapy.

One hundred and ninety-one patients treated with gold and penicillamine over a seven-year period were reviewed retrospectively for the occurrence of haematuria. Over this period 10% had shown haematuria, and in over half of these an identifiable cause was found. In the remaining patients, a clear relationship with their treatment seemed likely in only two. Penicillamine therapy was discontinued in all patients with unexplained haematuria, but two patients have continued to show haematuria. Gold therapy has been continued in the presence of haematuria without ill effect. There has been no deterioration in renal function in those patients who have continued to show unexplained haematuria and at no time was proteinuria an accompanying feature.

Eosinophilia in D-penicillamine therapy.

Cross-sectional and longitudinal studies have been carried out to determine the incidence and clinical significance of eosinophilia in patients taking penicillamine for rheumatoid arthritis. In a cross-sectional study of 204 patients eosinophilia was found with equal frequency during treatment with penicillamine, gold, and nonsteroidal anti-inflammatory drugs. A longitudinal study of 89 patients treated with penicillamine showed no consistent relationship between eosinophilia and adverse reactions to the drug. It is concluded that routine monitoring of eosinophil counts is unlikely to be of value in the management of patients taking penicillamine.

Relationship of gold and penicillamine therapy to diffuse interstitial lung disease.

Seven cases of diffuse interstitial lung disease (DILD) are reported with an unequivocal temporal relationship between the development of the lung disease and treatment with gold (6 cases) and penicillamine (1 case). They were characterised clinically by the sudden onset of dyspnoea and crepitations and radiologically by diffuse bilateral pulmonary shadowing. Most showed evidence of hypersensitivity such as eosinophilia, a raised serum IgE level in response to gold, proteinuria, thrombocytopenia, or an immediate postinjection reaction. DILD is a serious complication of treatment with gold and penicillamine that is commoner than generally realised.