Localized Scleroderma

The onset of scleroderma is generally insidious, and manifestations vary according to disease subtype. The initial skin manifestations of localized disease usually include erythema or a bluish hue seen around an area of waxy induration; subtle erythema may be the only presenting sign (Fig. 154-1). Early edema and erythema are followed by indurated, hypopigmented or hyperpigmented, atrophic lesions (Fig. 154-2). Linear scleroderma varies in size from a few centimeters to the entire length of the extremity, with varying depth. Patients sometimes present with arthralgias, synovitis, or flexion contractures (Fig. 154-3). Children also experience limb length discrepancies as a result of growth impairment due to involvement of muscle and bone. Children with en coup de sabre (Fig. 154-4) may have symptoms unique to central nervous system (CNS) involvement, such as seizures, hemifacial atrophy, ipsilateral uveitis, and learning/behavioral changes.

Figure 154-1 Boy with generalized morphea. Note the active circular lesion (arrowheads) with a surrounding rim of erythema. The largest lesion has areas of postinflammatory hyperpigmentation and depression with an area of erythema on the right. The small lesion (arrow) demonstrates depression due to lipoatrophy.

Figure 154-2 Inactive linear scleroderma demonstrating hyperpigmented lesion with areas of normal skin (skip lesions).

Figure 154-3 Child with untreated linear scleroderma resulting in knee contracture, immobility of ankle, chronic skin breakdown of scar on the lateral knee, and areas of hypopigmentation and hyperpigmentation. The affected leg is 1 cm shorter.

Figure 154-4 Child with en coup de sabre lesion on scalp extending down to forehead. Prior to treatment the skin on the scalp was bound down with chronic skin breakdown. Note the area of hypopigmentation extending down the forehead (arrows).

Up to 25% of children with LS have extracutaneous manifestations, most commonly arthritis (47%) and neurologic symptoms (17%) associated with en coup de sabre.

Systemic Scleroderma

Systemic scleroderma also has an insidious onset with a prolonged course characterized by periods of remission and exacerbation, ending in either remission or, more commonly, chronic disability and death.

The skin manifestations of SSc include an early phase of edema that spreads proximally from the dorsum of the hands and fingers and includes the face. An eventual decrease in edema is followed by induration and fibrosis of skin, ultimately resulting in loss of subcutaneous fat, sweat glands, and hair follicles. Later, atrophic skin becomes shiny and waxy in appearance. As lesions spread proximally, flexion contractures develop at the elbows, hips, and knees associated with secondary muscle weakness and atrophy. In the face, this process results in a small oral stoma with decreased mouth aperture. Skin ulceration over pressure points, such as the elbows, may be associated with subcutaneous calcifications. Severe Raynaud phenomenon causes ulceration of the fingertips with subsequent loss of tissue pulp and tapered fingers (sclerodactyly) (Fig. 154-5). Resorption of the distal tufts of the distal phalanges may occur (acro-osteolysis). Hyperpigmented postinflammatory changes surrounded by atrophic depigmentation gives a salt-and-pepper appearance. Over a period of years, remodeling of lesions sometimes results in focal improvement in skin thickening.

Figure 154-5 Sclerodactyly and finger ulcerations in a patient with systemic sclerosis who is poorly compliant with treatment.

Pulmonary disease is the most common visceral manifestation of SSc and includes both arterial and interstitial involvement (alveolitis). Symptoms range from asymptomatic disease to exercise intolerance, dyspnea at rest, and right-sided heart failure. Pulmonary arterial hypertension (PAH) is a poor prognostic sign, developing either as a consequence of lung disease or independently as part of the vasculopathy. Clinical manifestations of PAH in children appear late in the course, are subtle, and include cough and dyspnea on exertion. Pulmonary evaluation should include pulmonary function testing (PFT), bronchioalveolar lavage, and high resolution chest CT. PFTs reveal decreased vital capacity and decreased diffusion of carbon monoxide capacity (DLCO), while neutrophilia and/or eosinophilia on bronchioalveolar lavage suggest active alveolitis. Chest CT is much more sensitive than chest radiographs, which are often normal, showing typical basilar ground-glass abnormalities, reticular linear opacities, nodules, honey combing, and mediastinal adenopathy.

Other organ systems are involved in SSc. Gastrointestinal tract disease is seen in 25% of children with the disease. Common manifestations include esophageal and intestinal dysmotility resulting in dysphagia, reflux, dyspepsia, gastroparesis, bacterial overgrowth, dilated bowel loops and pseudo-obstruction, dental caries, as well as malabsorption and failure to thrive. Renal arterial disease can cause chronic or severe episodic hypertension; unlike in adult disease, renal crisis is rare. Cardiac fibrosis is associated with arrhythmias, ventricular hypertrophy, and decreased cardiac function. Mortality from juvenile systemic sclerosis is most commonly a result of cardiopulmonary disease.

Raynaud Phenomenon

Raynaud phenomenon (RP) is the most frequent initial symptom in pediatric systemic sclerosis, present in 70% of affected children months to years before other manifestations. Raynaud phenomenon refers to the classic triphasic sequence of blanching, cyanosis, and erythema of the digits induced by cold exposure and/or emotional stress. Raynaud phenomenon is most commonly independent of an underlying rheumatic disease (Raynaud disease), but it can be a consequence of other diseases as well as scleroderma, such as systemic lupus erythematosus and mixed connective tissue disease (Table 154-2). The color changes are brought about by (1) initial arterial vasoconstriction, resulting in hypoperfusion and pallor (blanching), (2) venous stasis (cyanosis), and (3) reflex vasodilatation caused by the factors released from the ischemic phase (erythema). The color change is classically reproduced by immersing the hands in iced water and reversed by warming. During the blanching phase, there is inadequate tissue perfusion in the affected area, associated with pain and paresthesias and resulting in ischemic damage only when associated with a rheumatic disease. The blanching usually affects the distal fingers but may also involve thumbs, toes, ears, and tip of the nose. The affected area is usually well demarcated and uniformly white.

Raynaud phenomenon often begins in adolescence and is characterized by symmetric occurrence, the absence of tissue necrosis and gangrene, and the lack of manifestations of an underlying rheumatic disease. Children have normal nail-fold capillaries (absence of periungual telangiectasias). Raynaud phenomenon should be distinguished from acrocyanosis and chilblains. Acrocyanosis is a vasospastic disorder resulting in cool, painless, bluish discoloration in the hands and sometimes feet despite normal tissue perfusion. It may be exacerbated by stimulant medications used to treat attention deficit disorder. Chilblains is a condition with episodic color changes and the development of nodules related to severe cold exposure and spasm-induced vessel and tissue damage; this condition has been associated with systemic lupus erythematosus.