Juvenile Systemic Sclerosis Clinical Presentation

Updated: Sep 18, 2017
  • Author: Donald A Person, MD, FAAP, FACR; Chief Editor: Harumi Jyonouchi, MD  more...
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Presentation

History

Raynaud phenomenon is the most common finding at the time of diagnosis and is present in approximately 75% of patients. Cold exposure or stress may induce vasoconstriction with the attendant episodic pallor and cyanosis, followed by erythema. Other skin changes such as induration and sclerodactyly are the next most common symptoms. Skin changes are often subtle and may take months to years to evolve. Swelling and puffiness of the hands and fingers, polyarthralgia, or polyarthritis of the hands, fingers, feet, and toes are also early symptoms seen in patients that go on to develop juvenile systemic sclerosis (JSSc). Most cases of Raynaud phenomenon are primary and unrelated to any connective tissue disease.

In patients with primary Raynaud phenomenon, common findings include bilateral involvement, no tissue necrosis, normal nail-fold capillaries, a normal erythrocyte sedimentation rate (ESR), and no autoantibodies. At least some of these features are expected in patients with Raynaud phenomenon secondary to JSSc, especially nail-fold capillary abnormalities and a positive ANA in addition to other skin findings proximal to the metacarpophalangeal and metatarsophalangeal joints.

Systemic sclerosis requires organ or tissue involvement in addition to skin changes. This involvement may be manifested as dysphagia, gastroesophageal reflux, dyspnea, palpitations, arthritis, muscle weakness, and neuropathies.

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Physical

Cutaneous

See the list below:

  • Skin - Diffuse puffiness of the hands and feet, which may be followed by development of tautness of the skin (hide-bound)
  • Hyperpigmentation/hypopigmentation - Commonly misdiagnosed as vitiligo
  • Telangiectasias
  • Face - Pursed lips, flattened and lost facial folds and features, and difficulty opening the mouth and chewing

Peripheral vascular

See the list below:

  • Raynaud phenomenon - Pallor, cyanosis, suffusion, and tingling of the fingers, which occurs abruptly and episodically (When the phenomenon is associated with a known cause scleroderma, SLE, RA], it is termed Raynaud syndrome.)
  • Abnormal nailfold capillaroscopy - Hemorrhages, abnormal or dilated loops, megacapillaries, arborization, and avascular areas

GI

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  • Esophageal dysmotility – Detected by newer diagnostic techniques in 90% of patients (Symptomatic dysphagia is seen in only 24% of patients.)
    Esophagram revealing dysmotility. Esophagram revealing dysmotility.
  • Reflux - Seen in 30% of children (Some also develop significant weight loss and diarrhea, possibly due to malabsorption.)

Pulmonary

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  • Interstitial pulmonary fibrosis, inflammatory alveolitis, and pulmonary hypertension either alone or in combination (See the image below.)
    Chest radiograph revealing diffuse, coarse interst Chest radiograph revealing diffuse, coarse interstitial marking with bilateral lower lobe bronchiectasis.
  • Pulmonary hypertension and fibrosing alveolitis leading to interstitial pulmonary fibrosis (major complication and cause of death in juvenile systemic sclerosis) (See the image below.)
    Axial CT scan of the chest of a 15-year-old female Axial CT scan of the chest of a 15-year-old female adolescent with progressive systemic sclerosis (PSS).

Cardiac

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  • Heart failure - Most common cause of death in JSSc, often complicated by concomitant pulmonary hypertension
  • Arrhythmias- Inflammatory and fibrotic processes such as pericarditis, myocardial fibrosis, fibrosis of the conduction system, and contraction band necrosis of coronary vessels

Musculoskeletal

See the list below:

  • Sclerodactyly (ie, tightening of the skin over the fingers), often with a tapered appearance of the fingertips and flexion contractures, leading to a decreased ability to use the hands (This is seen in 46% of patients at the time of diagnosis and develops in 66% of patients over the course of the disease. See the image below.)
    Photo of hands revealing sclerodactyly. This demon Photo of hands revealing sclerodactyly. This demonstrates the progression of disease over 7 years.
  • Digital tuft resorption - Observed on radiography, known as acro-osteolysis
  • Chronic myopathy - Mild weakness and minimal muscle enzyme elevations
  • Myositis - Not uncommon in systemic sclerosis, must be distinguished from other connective tissue diseases
  • Long-bone growth arrest and fibrotic bands that involve the joint capsule (in long-standing cases)
  • Contractures of the fingers and toes
  • Subcutaneous calcinosis - Seen in 19% of patients diagnosed with juvenile systemic sclerosis, usually involving extensor surfaces of both upper and lower extremities
  • Arthritis and arthralgias -More commonly seen in children with juvenile systemic sclerosis than in adult-onset disease

Renal

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  • Kidney involvement may be subtle, such as a slow rise in creatinine levels.
  • Renal changes were reported in only 13% of cases of JSSc, but patients who develop proteinuria or hypertension are at increased risk of death.
  • The renal lesion is a slowly progressive vasculitis with sclerosis.
  • Intimal proliferation, medial thinning, and adventitial fibrosis, with decreased blood flow and glomerular function, characterize this disorder.

Neurological

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  • Although seizures are rare in this population, 3% of patients with JSSc developed seizures at some time during their disease.
  • Peripheral neuropathy, such as carpal tunnel syndrome, is also rare and is caused by fibrotic impingement of a nerve.
  • Trigeminal neuropathy can also be seen in patients with facial skin involvement.
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Causes

JSSc is a condition of unknown etiology, but numerous conditions may be associated with cutaneous features that resemble classical skin changes typical of scleroderma. Environmental exposures and other disease with scleroderma-like skin changes include the following:

  • Toxic oil syndrome (adulterated rapeseed oil)
  • Eosinophilia myalgia syndrome (contaminated L-tryptophan) [6]  
  • Silica-associated and silicon-associated scleroderma
  • Chemical-associated/induced fibrosis (bleomycin, vinyl chloride, pentazocine, other amines)
  • Epoxy resin vapor
  • Organic solvents (benzene, xylene, toluene, methylene chloride, trichloroethylene, trichloroethane)
  • Digital fibrosis in diabetes mellitus
  • Scleromyxedema
  • Carcinoid syndrome
  • Eosinophilic fasciitis
  • Porphyria cutanea tarda
  • Acromegaly
  • Werner syndrome (premature aging with sclerodermatous skin changes and subcutaneous calcifications)
  • Hutchinson-Gilford syndrome (progeria)
  • Rothmund syndrome, also termed Rothmund-Thompson syndrome or poikiloderma congenitale (atrophic, hyperpigmented, telangiectatic cutaneous plaques)
  • Amyloidosis
  • Lichen sclerosis et atrophicus (sometimes misdiagnosed as sexual abuse in young girls)
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Complications

Complications include subcutaneous calcinosis, esophageal dysfunction to the point of malnutrition, and wasting.

Serious hypertension is an indication of advancing renal disease, and hypertensive crises occasionally occur.

For more information about the potential lethal effects of pulmonary artery hypertension, see Pulmonary Hypertension, Eisenmenger Syndrome; Pulmonary Hypertension, Persistent Newborn; and Pulmonary Hypertension, Idiopathic.

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