Scleroderma
Scleroderma: Excerpt from The 5-Minute Pediatric Consult
Randy Q. Cron, MD, PhD
Scleroderma - BASICS
Scleroderma - description
Scleroderma means "hard skin."
- Systemic sclerosis (SSc) or progressive systemic sclerosis (PSS):
- CREST: A variant form of systemic sclerosis
- Localized:
- Morphea
- Linear
- Coup de sabre
- Parry-Romberg syndrome
Scleroderma - epidemiology
- Systemic:
- Age of onset: 30–50 years; very rare in children
- Sex ratio: <7 years, Male = Female; >7 years, Female > Male (3:1); 15–44 years, Female > Male (15:1)
- CREST:
- Earlier age of onset than systemic sclerosis
- Female > Male
Scleroderma - incidence
- Systemic: 4.5–2 per million annually
- CREST: Affects ~1/2 of patients with systemic disease
- Localized: More common than systemic sclerosis, exact incidence is unclear
Scleroderma - risk factors
Scleroderma - genetics
Unknown
Scleroderma - pathophysiology
Proposed theories:
- Alteration of normal glycosylation and hydroxylation of collagen
- Serum factors: Endothelin
- Vasculopathy: Based on high association with Raynaud phenomenon
- Immune dysfunction: Autoimmunity directed against connective-tissue antigen such as laminin or type IV collagen
- May represent distinct early and late processes:
- Early: Increased hydrophilic glycosaminoglycan; increased T cells, macrophages, and plasma cells; mast-cell hyperplasia
- Late: Increased collagen content; collagen is embryonic with narrow fibrils and immature cross banding; atrophy of rete pegs
Scleroderma - DIAGNOSIS
Scleroderma - signs & symptoms
- Systemic sclerosis:
- Diagnostic criteria (1 major criterion or 2 minor criteria required)
- Major: Sclerodermatous changes (tightness, thickening, induration) proximal to metacarpophalangeal or metatarsophalangeal joints
- Minor: Sclerodactyly-sclerodermatous changes limited to digits, digital pitting, bibasilar pulmonary fibrosis not owing to primary lung disease
- CREST:
- Calcinosis
- Raynaud phenomenon
- Esophageal dysmotility
- Sclerodactyly
- Telangiectases
- Same characteristics as systemic scleroderma, but calcinosis is more severe
- Distal symptoms are more severe.
- Associated with anticentromere antibody
- Localized:
- Fibrosis limited to skin, SC tissue, and muscle
- Systemic features:
- Rare: Visceral involvement later in disease
- Occasional: Evolution into another connective tissue disease such as mixed connective tissue disease or systemic lupus erythematosus (SLE)
- Very rare: Raynaud phenomenon
- Forms:
- Morphea: ≥1 oval or round indurations that become hard and whitish early on, have active inflammatory border with violaceous color. Forms: Plaque or guttate; limited number of lesions; generalized: Rxtensive; nodular: SC
- Linear: ≥1 linear areas affecting subcutaneous tissue, muscle, and bone
- Coup de sabre: Involves face or scalp; may be associated with seizures
- Parry-Romberg syndrome: Form of linear scleroderma; congenital dysplasia of subcutaneous tissue; neurologic changes such as TIAs
Scleroderma - history
- Thickening of skin
- Tightness of joints
- Discoloration of skin
- Often insidious onset
- Morning stiffness
- Heartburn, dysphagia, reflux, cough with swallowing
Scleroderma - physical exam
- Findings:
- Skin:
- Stage 1: Edema. Tense, nonpitting, perhaps warm or tender, but often asymptomatic
- Stage 2: Sclerosis. Waxy, hard texture; bound to SC structures, back of digits, face (loss of forehead wrinkles, reduced mouth orifice)
- Stage 3: Atrophy. Shiny appearance, hypopigmented or hyperpigmented, calcium deposits in SC tissue. Telangiectases: Macular dilatations that fill slowly, unlike spider telangiectasias
- Pitfalls:
- Failure to appreciate limited mouth opening
- 2 conditions:
- Primary phenomenon or Raynaud disease
- Secondary Raynaud phenomenon
- Primary Raynaud phenomenon is not associated with underlying disease:
- Milder form
- 75% are women.
- Secondary Raynaud phenomenon is associated with underlying disease such as lupus, Sjögren syndrome, dermatomyositis, and polymyositis; more serious:
- Triple phase: Blanching, cyanosis, erythema
- Present in ~90% of patients with systemic sclerosis
- Usually fingers; also toes, nose, ears, and tongue; often spares thumb
- Pathophysiology: Arterial vasoconstriction, venous stasis to cyanosis, reflex vasodilatation to erythema
- Calcinosis, especially over extensor joint surfaces in systemic form only
- Musculoskeletal:
- “Creaking” of thickened tendons
- Contractures, especially proximal interphalangeal joints and elbows
- No intra-articular inflammation
- Muscle inflammation in ~30% of cases
- GI:
- Mucosal telangiectasias of mouth
- Decreased incisor distance secondary to skin thickening
- Sicca syndrome with parotitis
- Loosening of teeth secondary to periodontal membrane disease
- Esophageal disease: Esophagitis, occasional ulceration or stricture
- Large-bowel disease less common
- Cardiac:
- Primary cause of morbidity
- Possibly owing to Raynaud phenomenon of coronary arteries
- Pulmonary:
- Interstitial fibrosis with gradual obliteration of vascular bed and resulting cor pulmonale
- Parenchymal disease is almost universal; frequently asymmetric; may have hacking cough, dyspnea on exertion, pleural rub.
- Combined pulmonary vascular and pulmonary parenchymal disease
- Primary pulmonary vascular disease with right ventricular failure
- Renal: Owing to decreased renal plasma flow, proteinuria, hypertension
- CNS: Cranial nerve involvement, especially sensory branch of trigeminal nerve
- Sicca syndrome:
- Xerostomia (dry mouth)
- Keratoconjunctivitis sicca (dry eyes)
Scleroderma - tests
- For sicca syndrome:
- Schirmer test for dry eyes
- Lip biopsy
- Rose bengal staining of cornea
- ECG:
- 1st-degree block
- Right and left bundle-branch block
- Premature atrial contractions (PACs) and premature ventricular contractions (PVCs): Nonspecific T-wave changes, ventricular hypertrophy
- Pulmonary function tests:
- Restrictive lung disease: Present in 34% of patients with systemic sclerosis
- Earliest changes are decreased FVC and small airway disease
- Decreased diffusing capacity of the lung for carbon monoxide (DLCO): Present in 18% of patients with systemic sclerosis
Scleroderma - lab
There are no specific diagnostic tests.
- Nonspecific tests:
- Systemic form:
- ANA: Often positive
- Hemoglobin: 25% have anemia owing to chronic disease or vitamin BEosinophilia: Present in 50%
- Sclero-70 (Scl-70 or topoisomerase 1) antibodies: Present in 26% of adults; more common with diffuse disease than with peripheral vascular disease
- Anticentromere antibody: Present in 22%, almost exclusively with CREST
- Muscle biopsy
- Localized forms:
- Eosinophilia: Present in 25% to 50% during active disease
- ANA: Positive in 37% to 67%
Scleroderma - imaging
- Chest radiograph:
- Bibasilar pulmonary fibrosis
- Rib notching
- Calcifications (in CREST)
- High-resolution chest CT:
- Ground-glass attenuation
- Honeycombing
- Bone radiograph:
- Acro-osteolysis: Resorption of tufts of distal phalanges, especially with severe Raynaud phenomenon
- Periarticular or subcutaneous calcification (15–25% patients)
- Bony erosions
Scleroderma - pathological findings
- Periungual nailfold changes: Capillary dropout and dilated loops; occasional redundant cuticular growth and digital pitting
- Histologic:
- Muscle: Increased collagen and fat; negative immunofluorescence
- Esophagus: Atrophic muscle replaced by fibrous tissue more commonly affects smooth muscle of lower 2/3 of esophagus.
- Esophageal manometry and pH probe: Decreased or absent peristalsis of distal esophagus—distal dilatation, hiatus hernia, stricture
- Dilatation of 2nd and 3rd part of duodenum and proximal jejunum
Scleroderma - differencial diagnosis
- Graft versus host disease
- Phenylketonuria
- Borrelia infection: Acrodermatitis chronica atrophicans
- Porphyria cutanea tarda
- Scleredema
Scleroderma - TREATMENT
Scleroderma - general measures
- Supportive care: Avoid cold, trauma, and excessive cold.
- Management of Raynaud phenomenon:
- Avoid cold, beta-blockers, biofeedback.
Scleroderma - special therapy
Scleroderma - phys therapy
- Helps retard development of contractures and muscle atrophy
- Pitfall:
- Insufficient physical therapy resulting in permanent joint contractures
Scleroderma - medication
Disease modification: Many agents have been tried; however, there are few controlled trials and no proven treatment exists. Medications include:
- Colchicine: Inhibits fibroproliferative process
- Immunosuppressives:
- Steroids, chlorambucil, methotrexate, cyclosporine, cyclophosphamide
- Pitfall:
- Avoid excessive use of immunosuppressive therapy late in disease when inflammatory component has resolved.
Scleroderma - FOLLOW UP
Scleroderma - prognosis
- Natural course includes several phases:
- Initial: Inflammation
- Late: Sclerosis
- Occasional regression over 3–5 years
- Ultimate prognosis depends on severity of skin tightness, joint contracture, and visceral involvement.
- Mortality:
- Males > Females
- Nonwhites > Whites
- Most common cause of death in pediatric patients is secondary to cardiac, renal, and pulmonary complications.
Scleroderma - complications
- Systemic:
- See “Physical Examination.”
- Localized:
- Skin thickening
- Joint contractures
- Leg length discrepancies
Scleroderma - patient monitoring
- Difficult to follow slow disease progression, thus photography of lesions every 3–6 months is recommended
- Localized forms:
- Physical examination for joint mobility, muscle bulk, and growth
- Systemic forms:
- Physical examination for joint mobility, muscle bulk, and growth
- Yearly pulmonary function tests
- Yearly barium swallow
Scleroderma - bibliography
- Athreya B. Juvenile scleroderma. Curr Opin Rheumatol. 2002;14:553–561.
- Cron RQ, Swetter SM. Scleredema revisited. A poststreptococcal complication. Clin Pediatr. 1994;33:606–610.
- Fitch PG, Rettig P, Burnham JM, et al. Treatment of pediatric localized scleroderma with methotrexate. J Rheumatol. 2006;33:609–614.
- Foeldvari I. Scleroderma in children. Curr Opin Rheumatol. 2002;14:699–703.
- Marini G, Foeldvari I, Russo R, et al. Systemic sclerosis in childhood: Clinical and immunological features of 153 patients in an international database. Arthritis Rheum. 2006;54:3971–3978.
- Murray KJ, Laxer RM. Scleroderma in children and adolescents. Rheum Dis Clin North Am. 2002;28:603–624.
- Rosenkranz ME, Lehman TJ. Clinical trials for pediatric scleroderma. Curr Rheumatol Rep. 2002;4:449–451.
- Seely JM, Jones LT, Wallace C, et al. Systemic sclerosis: Using high-resolution CT to detect lung disease in children. AJR Am J Roentgenol. 1998;170:691–697.
Scleroderma - CODES
Scleroderma - icd9
710.1 Systemic sclerosis
Scleroderma - FAQ
- Q: Is a biopsy necessary?
- A: Biopsy is often useful to confirm diagnosis and assess degree of inflammation.
- Q: Is the sclero-70 antibody useful?
- A: Not for diagnosis; it is positive only in a subset of individuals with the systemic form and, therefore, useful for predicting more severe disease.
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Book Source Details
- Book Title: The 5-Minute Pediatric Consult
- Author(s): M. William Schwartz MD; et al.
- Year of Publication: 2008
- Copyright Details: The 5-Minute Pediatric Consult, Copyright © 2008 Lippincott Williams & Wilkins.
More About Scleroderma
More Medical Textbooks Online about Scleroderma
Review other book chapters online related to Scleroderma:
Medical Books Excerpts
- Scleroderma
- "Professional Guide to Diseases (Eighth Edition)" (2005)
- [ read ]
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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More About This Book:
Title: The 5-Minute Pediatric Consult
Authors: M. William Schwartz MD; et al.
Publisher: Lippincott Williams & Wilkins
Copyright: 2008
ISBN: 0-7817-7577-9
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