Pachydermoperiostosis
Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare disease of the skin and bones that has clear genetic predisposition and well-defined clinical features. PDP is characterised by…
Jaccoud’s arthropathy
Jaccoud’s arthropathy (JA) is a condition characterised clinically by ‘reversible’ joint deformities such as swan neck, thumb subluxation, ulnar deviation, ‘boutonniere’ and hallux valgus, along with an absence of articular…
Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)
Familial tumoral calcinosis (TC) is a rare disorder distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). Serum phosphorus…
Rare thesaurismosis and xanthomatosis
The focus will be on xanthomatosis, a tissue danger signal which needs to be recognized by the clinician, and its relationship with monogenetic lipoprotein disorders (cholesterol, triglycerides), bile acid and…
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…
