Scleroderma, mixed connective-tissue disease and overlap syndromes

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Target exams

Red flags

• A child with new proximal skin thickening, Raynaud phenomenon and puffy fingers has juvenile systemic sclerosis until proven otherwise, because the pulmonary and renal disease evolve silently
• New hypertension with a rising creatinine and microangiopathic haemolysis in a child with diffuse systemic sclerosis is a scleroderma renal crisis, treated with an angiotensin-converting enzyme inhibitor even when the creatinine is rising
• High-dose corticosteroids above fifteen milligrams per day of prednisolone equivalent can precipitate a scleroderma renal crisis in the diffuse-cutaneous systemic sclerosis and must be avoided
• A linear band of indurated skin crossing a joint or the face in a growing child causes permanent contracture and facial asymmetry unless treated early with methotrexate
• The child with mixed connective-tissue disease and a falling diffusion capacity or rising pro-B-type natriuretic peptide may have evolving pulmonary arterial hypertension, the leading cause of death in the disease

Life stages

Care settings

Clinical exam formats

Board mappings

• Separates the localised scleroderma (morphea), confined to the skin and the subcutaneous tissue, from the juvenile systemic sclerosis, which involves the internal organs, and names the Raynaud phenomenon and the tight shiny skin as the gateway signs
• Recognises the linear subtype as the commonest form of the juvenile localised scleroderma, including the en coup de sabre of the forehead and the Parry-Romberg progressive hemifacial atrophy
• Identifies the child with the high-titre anti-U1-RNP antibody and the overlapping features of lupus, scleroderma and myositis as the mixed connective-tissue disease
• Reproduces the Pediatric Rheumatology European Society and American College of Rheumatology provisional classification criteria for the juvenile systemic sclerosis, with the major criterion of the proximal skin sclerosis and at least two minor criteria
• Maps the scleroderma pathophysiology triad of the microvascular injury, the immune activation and the fibroblast-driven fibrosis, and links the specific autoantibodies to the organ risk
• Coordinates the multidisciplinary care from the methotrexate for the skin disease through the vascular and the pulmonary and the renal protection to the late-effects surveillance
• The localised scleroderma is the commoner paediatric form, the linear subtype dominates, and the methotrexate is the first-line systemic therapy for the active disease
• The juvenile systemic sclerosis is rare in childhood, it is defined by the proximal skin sclerosis with the internal organ involvement, and the pulmonary disease is the leading cause of the death
• The mixed connective-tissue disease is defined by the high-titre anti-U1-RNP antibody and the overlap of lupus, scleroderma and myositis, and the pulmonary hypertension is the feared complication
• Counsels the family of a child with the linear scleroderma on the disease course, the methotrexate therapy, the role of the physiotherapy in the contracture prevention, and the cosmetic and the functional outcomes
• Builds the multidisciplinary plan for the juvenile systemic sclerosis that runs the paediatric rheumatology, the cardiology, the respiratory, the nephrology, the dermatology and the physiotherapy together
• Synthesises the overlap syndrome child into a plan that treats the dominant feature while screening for the evolving lupus, the myositis and the pulmonary hypertension
• Level 1: Recognition of the localised scleroderma and the systemic sclerosis as distinct entities, and the Raynaud phenomenon as the gateway sign
• Level 2: Application of the classification of the juvenile localised scleroderma subtypes, the juvenile systemic sclerosis criteria, and the mixed connective-tissue disease serology
• Level 3: Coordination of the immunosuppressive, the vascular and the organ-protective therapy, and the long-term surveillance
• The distinction between the localised and the systemic scleroderma in childhood, and the linear subtype as the commonest localised form
• The autoantibody associations of the juvenile systemic sclerosis, the anti-Scl-70 and the interstitial lung disease, and the anti-centromere and the pulmonary hypertension
• The mixed connective-tissue disease as the anti-U1-RNP overlap syndrome and the role of the pulmonary hypertension in the prognosis
• Focused skin and musculoskeletal examination of the child with the suspected scleroderma, including the modified Rodnan skin score, the nailfold capillaroscopy and the joint range of movement
• Communication of the diagnosis and the prognosis of the juvenile localised scleroderma and the systemic sclerosis to the child and the family
• Recognition of the scleroderma renal crisis and the pulmonary hypertensive crisis as the emergencies
• Juvenile localised scleroderma as the commoner paediatric scleroderma, the linear subtype dominating, and the methotrexate as the first-line systemic therapy
• Juvenile systemic sclerosis as the rare multisystem disease defined by the proximal skin sclerosis and the internal organ involvement, with the pulmonary disease as the leading cause of the mortality
• Mixed connective-tissue disease as the high-titre anti-U1-RNP overlap of lupus, scleroderma and myositis
• Recognition of the red flag features of the paediatric scleroderma that mandate the specialist referral, the tight skin, the Raynaud phenomenon and the digital ulcers
• Application of the initial workup including the autoantibody panel, the nailfold capillaroscopy and the pulmonary and the cardiac screening
• Coordination of the multidisciplinary management of the juvenile systemic sclerosis and the overlap syndromes
• Canadian approach to the classification and the diagnosis of the juvenile localised scleroderma, the systemic sclerosis and the mixed connective-tissue disease
• The methotrexate-based therapy for the localised disease and the organ-specific therapy for the systemic disease
• The long-term surveillance of the pulmonary arterial hypertension, the interstitial lung disease and the growth in the paediatric scleroderma