Overview of the clinical presentation of connective tissue diseases in children

Abstract

The connective tissue diseases which may present in childhood with musculo skeletal symptoms such as joint and muscle pains and stiffness can be broadly divided into six groups: 1. Musculoskeletal symptoms as the typical presentation. Juvenile chronic/idiopathic arthritis (JCA/JIA) including systemic disease, Still’s disease [1], which may present only as a ‘puo’-pyrexia of unknown origin. 2. Relatively frequent presentation with musculoskeletal pain. Systemic lupus erythematosus (SLE) [2–5]. Dermatomyositis (JDMS) and polymyositis [4,5]. 3. Connective tissue disorders which may more rarely present with joint pain. Systemic sclerosis (Scleroderma) [2,3]. Polyarteritis nodosa [3]. 4. Acute childhood diseases which may present with musculoskeletal symptoms. Henoch Schonlein purpura (HSP) [3] – commonly and Kawasaki disease (KD) [3,5]. 5. Miscellaneous, including Sjogren’s syndrome, overlap syndromes [2,3,6] including mixed connective disease (MCTD) and Calcinosis Raynaud’s Ectopic Calcification Sclerodactyly and Telangiectasia (CREST). Other very rare vasculitic conditions including Wegener’s granulomatosis and Churg Strauss syndrome [3]. 6. Other rare conditions such as Sarcoid [2,3], Behcets disease [1], and Familial Mediterranean Fever may present with symptoms related to the musculoskeletal system, as may some malignancies of childhood. The clinical presentation of connective tissue disease in childhood can range from an acute severe illness mimicking a serious infection, to an insidious onset of disease that may only lead to recognition many months after the onset of symptoms. Many of the early symptoms can be non-specific and include malaise, fatigue, muscle aches and weakness, skin rash, arthropathy, abdominal pain, and fever. More specific symptoms may suggest a particular type of connective tissue disease [7]. Many of the diseases share as their common pathology vasculitis, i.e. inflammation of the blood vessels themselves [3]. The target blood vessels can be large vessels (Takayasu’s arteritis), medium (KD and Polyarteritis nodosa) and sometimes small vessels (Wegener’s granulomatosis, Churg Strauss syndrome and HSP) and this process can be responsible for many of the symptoms and the effects upon individuals and individual systems of the body. Vasculitis is a feature of the two commonest vasculitis illnesses seen in childhood HSP and KD, however given their frequency and common clinical presentation these two conditions are seen more in general paediatrics than in paediatric rheumatology. These connective tissue diseases can be compared to syphilis in earlier times, in so far as they are great mimickers of disease in specific systems and not only can they present with symptoms in many different organ systems, but during the course of the disease other organ systems can become involved. Hence while presenting symptoms may relate to inflammation of the musculo skeletal system (muscles and joints) and the skin, in addition to the upper and lower respiratory tract, the pleura/pericardium and peritoneum (serositis), the kidneys, the gastro-intestinal tract (git) and the haematological system may all also be involved in the disease process. Many of the disease are similar to their counterparts in adult medicine and in some the childhood presentation is emphasised in the term used in adult medicine for example Adult Onset Still’s disease (AOSD) to describe the rare form of systemic disease/ * Tel.: +44-151-2284811; fax: +44-151-2280328.