Scleroderma, mixed connective-tissue disease and overlap syndromes: Case

Framing the case

This six-year-old boy has the classic presentation of the linear scleroderma, the commonest subtype of the juvenile localised scleroderma. The band of hard, shiny skin crossing the right knee, the five-month duration, the violaceous active edge, and the loss of the full extension together declare the active linear disease, and the limp is the functional consequence of the tethered joint. The framework that organises the case is the localised scleroderma, the skin-confined family, and the urgent need to halt the active inflammation before the contracture fixes in the growing child. [6][7]

Immediate assessment and the classification

The assessment begins with the recognition that this is the localised and not the systemic disease. The absence of the Raynaud phenomenon, the sclerodactyly, the nailfold changes and the systemic symptoms places the lesion in the localised family, and the band morphology places it in the linear subtype. The Zulian classification, drawn from the seven hundred and fifty children, sorts the localised disease into the circumscribed morphea, the linear scleroderma, the generalised morphea, the pansclerotic morphea and the mixed morphea, and the linear subtype is the commonest in children, around two-thirds. The band is photographed and mapped, the joint range is measured, and the limb length is compared for the asymmetry. [6][8]

The named diagnosis and the definitive management

The diagnosis is the active linear scleroderma of the right lower limb. The definitive management is the methotrexate at fifteen milligrams per square metre per week by the subcutaneous route with the folic acid, and the systemic corticosteroid is added as the bridging for the active and the severe disease, as the intravenous methylprednisolone pulse of thirty milligrams per kilogram per day capped at one gram for three consecutive days repeated monthly for three months, or the oral prednisolone at one milligram per kilogram per day capped at fifty milligrams tapered over the months. The physiotherapy and the occupational therapy, with the stretching, the splinting and the serial casting, run alongside to preserve and to restore the joint range, and the reconstructive surgery is deferred until the disease is quiescent. [9][7]

Contrasting the systemic sclerosis and the overlap syndrome

The examiner asks the candidate to contrast this localised disease with the juvenile systemic sclerosis and the mixed connective-tissue disease. The juvenile systemic sclerosis presents with the Raynaud phenomenon, the puffy hands and the proximal skin tightening, and it is defined by the PReS and ACR criteria of the proximal skin sclerosis plus at least two minor criteria, with the pulmonary disease the leading cause of the mortality and the renal crisis treated with the angiotensin-converting enzyme inhibitor. The mixed connective-tissue disease presents with the overlapping features of the lupus, the scleroderma and the myositis, defined by the high-titre anti-U1-RNP antibody, and managed by the dominant feature while the pulmonary hypertension is screened. The contrast holds the three families apart and frames the management of each. [1][10]

Communication and the family

The family is counselled honestly and with the focus on the functional outcome. The candidate names the diagnosis of the linear scleroderma, explains that the disease is confined to the skin and the tissue beneath it and does not reach the internal organs, and that the methotrexate is begun to halt the active inflammation before the contracture fixes. The parents are taught the role of the physiotherapy and the splinting, the expected course over the months to the years, and the possibility of the reconstructive surgery once the disease is quiescent. The boy is prepared in an age-appropriate way, and the school and the siblings are included. The psychological support addresses the body image and the participation. [7][9]