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Paediatric Oncology and Haematology, Children's Hospital and Woman's Hospital
Paediatric age onset systemic autoimmune diseases are infrequent, complex entities that require a multi-disciplinary approach. The most frequent include juvenile onset systemic lupus erythematosus, mixed connective tissue disease, juvenile onset Sjögren’s syndrome, juvenile dermatomyositis, juvenile scleroderma, and paediatric age onset vasculitis, such as Kawasaki disease, IgA vasculitis (also known as Schönlein-Henoch purpura), polyarthritis nodosa and Takayasu disease.
The clinical manifestations of these diseases are highly varied. Juvenile systemic lupus erythematosus may affect several organs in the body, particularly the skin, joints, blood, kidneys and the central nervous system. In children, it is common for fever to appear without an infectious cause or an increase in the size of the lymph nodes.
Juvenile dermatitis is characterised by the presence of fatigue, muscle pain, weakness and the appearance of rashes that may affect the face, with inflammation around the eyes (periorbital oedema) There may also be reddening of the cheeks (malar rash) and other parts of the body (top part of the knuckles, knees and elbows), where the skin may become thicker (Gottron’s papules). Juvenile scleroderma, whose name comes from the Greek and means “hard skin”, is characterised by the presence of lesions on the skin and affects various organs. Two types can mainly be identified: localised scleroderma and systemic scleroderma.
Kawasaki disease is characterised by the presence of a high fever of unknown origin, irritability, reddening of the eyes and various skin lesions, such as a rash on the torso, flaking fingers and reddening of the tongue (normally called “strawberry tongue”). The involvement of the heart is the most serious manifestation of Kawasaki disease, due to the possibility of long-term complications.
Schönlein-Henoch purpura is characterised by a rash on the legs called “palpable purple” because the skin lesions can be touched, and painful and swollen joints, abdominal pain and kidney problems may appear.
All the conditions within the group are infrequent and have an incidence of less than 5 cases per 10,000 inhabitants, for which reason they are considered to be rare conditions. The spread is different depending on the disease. For example juvenile systemic lupus erythematosus, along with juvenile dermatomyositis and scleroderma, are more common in girls, while Schönlein-Henoch purpura is more common in boys.
Diagnosis of paediatric systemic autoimmune diseases is eminently clinical and we are guided by classification and diagnostics criteria in many of them. Blood tests are important for diagnosing the different systemic autoimmune diseases, as various autoantibodies can be identified that can help with the diagnosis and monitoring of these diseases. Supplementary tests, such as a capillaroscopy, chest X-ray, respiratory function tests, nuclear magnetic resonance and echocardiogram, amongst others, can be helpful when we come to approaching a paediatric patient with a suspected systemic disease.
Treatment fundamentally depends on the type of condition and the response to the therapy chosen. There is not currently any specific curative treatment for each one of the diseases, but the treatments available will help to control the signs and symptoms of the disease and prevent complications, including permanent damage to organs and tissue.
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