Blau syndrome
Blau syndrome (BS) is a rare dominantly inherited, inflammatory syndrome characterised by the clinical triad of granulomatous dermatitis, symmetric arthritis and recurrent uveitis. The caspase recruitment domain gene CARD15/NOD2 has…
Gaucher disease and bone
Gaucher disease (GD) is an inherited lysosomal storage disorder affecting multiple organs. Non-neuronopathic GD, the most common form, can present with hepatosplenomegaly, anaemia, bleeding tendencies, thrombocytopenia, skeletal pathologies, growth retardation…
Haemochromatosis: The bone and the joint
Genetic haemochromatosis is a hereditary disease characterised by tissue iron overload. In Caucasians it is most often due to homozygous C282Y HFE gene mutation, but other genes may be involved….
Bartter’s and Gitelman’s diseases
Bartter’s and Gitelman’s syndromes are two different genetic renal diseases, but are both characterised by hypokalaemia and metabolic alkalosis. Bartter’s syndrome is characterised by multiple gene mutations (Na–K–2Cl cotransporter; K…
Musculoskeletal conditions associated with Wilson’s disease
Wilson’s disease (WD) is a rare disease, defined as an autosomal recessive disorder characterised by release of free copper and dramatic accumulation of intracellular hepatic copper with subsequent hepatic and…
An introduction to common and uncommon clinical or metabolic diseases with rheumatic phenotypes
In uncommon diseases, or in orphan diseases, musculoskeletal disorders can be the hallmark of the diseases. This can be a difficult diagnostic issue. Clinicians are aware of characteristic clinical phenotypes…
Glucocorticoids
Glucocorticoids remain part of the treatment strategy in many rheumatic diseases, because of their anti-inflammatory and immunosuppressive actions. Unfortunately, their clinically desired effects are linked to adverse effects, especially at…
Immune modulation of rheumatoid arthritis
The approval – several years ago – of the first tumour necrosis factor-α (TNF-α) inhibitor for the management of rheumatoid arthritis launched a new era in the therapeutics of rheumatology….
Molecular serum and urine marker repertoire supporting clinical research on joint diseases
The need for improved analytical techniques in the study of slow, degenerative diseases such as rheumatoid arthritis and osteoarthritis has driven major efforts aimed at identifying biochemical markers of pathological…
Emerging targeted therapies in scleroderma lung and skin fibrosis
Systemic sclerosis (SSc) is a multisystemic fibrotic disorder that affects the skin and internal organs. Despite an improved outcome probably reflecting a better management of disease complications, morbidity and mortality…
