Introduction The ‘Arthropathy of Down syndrome’ was first described in 1984. Three decades on we still have limited literature on the clinical and radiological features of this arthritis, despite the fact that it is thought to be 3-6 times more common than JIA in the general paediatric population. Down’s Arthropathy (DA) is rarely recognised at onset, and remains under-diagnosed and largely und...

Genetic hemochromatosis is not a rare disease and represents a frequently underestimated cause of arthropathy. Joint involvement is one of the most frequent manifestations of the disease and presents typical clinical and radiological features that strongly suggest the diagnosis. Joint complaints are often the first clinical manifestation of GH. Their identification may be crucial to establish t...

An unusual, destructive form of erosive hand arthropathy is described in five postmenopausal women. Although early clinical and radiological findings were most in keeping with a diagnosis of erosive osteoarthritis (EOA), hand involvement progressed to a distribution intermediate between EOA and rheumatoid arthritis (RA). Although asymptomatic, all patients had features of Sjögren's syndrome (SS...

Spontaneous fractures of the scapula are rare, especially those involving the scapular spine. There are only a few case reports addressing this topic. Two cases are presented of spontaneous scapular spine fractures in patients with cuff-tear arthropathy. Treatment was conservative, resulting in a stiff shoulder in both patients. The combination of oral steroids and cuff-tear arthropathy seems t...

This chapter serves as a primer on the pathophysiology of both diabetes mellitus and Charcot arthropathy for the orthopedic surgeon. In regards to diabetes we will focus on the pathophysiology as it pertains to musculoskeletal manifestations of the disease process. The pathophysiology that underlies the development of diabetes is beyond the scope of this chapter. We will discuss both the histor...

Alkaptonuria (AKU) results from defective homogentisate1,2-dioxygenase (HGD), causing degenerative arthropathy. The deposition of ochronotic pigment in joints is so far attributed to homogentisic acid produced by the liver, circulating in the blood and accumulating locally. Human normal and AKU osteoarticular cells were tested for HGD gene expression by RT-PCR, mono- and 2D-Western blotting. HG...

The association of hypophosphatasia and pyrophosphate arthropathy in an adult patient has been described on 1 previous occasion. We report a further 2 patients with this disease combination. One patient suffers from the type of hypophosphatasia that presents in adult life, with fractures that are either spontaneous or the result of minimal trauma. The other patient suffered from the severe type...

Introduction Ankylosing spondylitis (AS), also known as Pierre-Marie Strumpell’s disease and, more commonly, as Bechterew’s disease, is nowadays a well-recognized inflammatory disease entity with a prevalence about 0.5%. AS primarily involves the sacroiliac joints (SIJ) and the spine, but also peripheral joints and entheses. The SIJ and spinal involvement cause chronic inflammatory back pain an...

Three patients developed a polyarthritis in association with Dressler's (post-myocardial infarction) syndrome. Joint involvement was more pronounced in the upper limbs and persisted many months after other features of Dressler's syndrome had settled. In 2 cases the findings in the joints were slight and might have been overlooked but for the persistently raised ESR. There was a prompt symptomat...

Multicentric reticulohistiocytosis (MRH) is a rare systemic disease, which commonly manifests as muco-cutaneous papulonodules and inflammatory erosive polyarthropathy. In this research, we report the clinical manifestations and management of a rare case of MRH with destructive arthropathy of bilateral hip joints and arthritis mutilans presenting with characteristic deformities. Disabling hip ar...