Paediatrics: Scleroderma

Scleroderma

Hard, tight, inelastic skin and subcutaneous tissue. Female to male ratio is 2:1. Two distinct syndromes.

Localized scleroderma (morphoea, linear scleroderma)

•   Lesions confined to the skin are termed morphoea.

•   Lesions that involve the underlying tissues, sometimes down to bone, are termed linear scleroderma (LS).

•   In both types there is an initial inflammatory phase with single or multiple flesh-coloured or erythematous plaques. These evolve into firm, waxy, yellow-white shiny lesions with violaceous borders.

•   Growth of the region under LS is arrested and this can result in severe growth and cosmetic deformities.

•   Linear lesions across the forehead to the nose are termed ‘en coup de sabre’. These lesions may extend down to the brain and be associated with epilepsy.

•   Oligoarthritis (10%) can precede skin changes.

•   Oesophageal involvement not infrequent, but no other systemic changes.

Systemic sclerosis (SSC or progressive systemic sclerosis PSS)

•   Raynaud’s phenomenon is universal (often the presenting symptom); severe attacks can result in digital ischaemia, ulceration, and bony resorption.

•   Skin changes follow with oedema and inflammation. Symmetrical involvement of the metacarpal phalangeal (MCP) joint and metatarsal phalangeal (MTP) joints.

•   Finger oedema lasts for several weeks and is replaced by taut, waxy, shiny, thickened skin that eventually becomes atrophic. Finger tip skin may crack (‘mechanics’s hands’).

•   Facial involvement: pinched nose, expressionless façade, and decreased gape.

•   Nail folds are ragged with telangiectasia.

•   Joints: stiff from overlying scleroderma. Occasional oligoarthritis.

•   Dysmotility and bowel wall thickening can occur throughout the bowel leading to malabsorption, wasting, bloating, abdominal cramps, diarrhoea, or severe constipation.

•   Pulmonary fibrosis and pulmonary hypertension are initially asymptomatic. When more severe they lead to dyspnoea, syncope, and death.

•   Myocarditis, pericarditis, and arrhythymias reported.

•   Renal disease with crisis used to be commonest cause of death.

Investigations

•   FBC, ESR; LFTs, renal function including BP; ANA, anti-centromere, and anti-topoisomerase antibodies.

•   CXR; ECG; echocardiogram to screen for pulmonary hypertension.

LFTs and CT scan if fibrosis or pulmonary hypertension.

Treatment and management

No treatment is consistently effective in slowing or preventing fibrosis and sclerosis in severe progressive cases. MTX, mycophenolate, ciclosporin, and low dose steroids have been used in the inflammatory phase. Steroids and ciclosporin may precipitate scleroderma renal crisis (check for hyper-tension and treat with ACE inhibitors).

Symptomatic treatment depending on organ involvement:

• Raynaud’s: hand warmers; double gloves; oral or topical vasodilators; prostacyclin for severe attacks and digital gangrene;

• GI tract: avoid NSAIDs. Metoclopramide aids gut motility; proton pump inhibitors for acid secretion; pancreatic supplements.

Prognosis

• Localized scleroderma: generally good prognosis. Cosmetic deformities may occur if bone involvement with linear scleroderma.

SSC/PSS: poor prognosis. 5yrs survival 34–73%. Death from pulmonary hypertension and renal crisis.