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Scleroderma

Chronic connective tissue disease of unknown etiology that causes widespread microvascular damage and excessive deposition of collagen in the skin and internal organs.

Tight, thickened skin has curled the fingers of this scleroderma patient. | Simpkins, B. (2017). | http://www.hopkinsmedicine.org/mediaII/MNU/2006/scleroderma.html

Chronic connective tissue disease of unknown etiology that causes widespread microvascular damage and excessive deposition of collagen in the skin and internal organs.

Epidemiology

  • Females (x4 than males)
Characteristics of the EUSTAR cohort
Characteristics of the EUSTAR cohort: Figure shows the gender and age distribution of the European League Against Rheumatism (EULAR) Scleroderma Trials | Allanore, Y., Simms, R., Distler, O., Trojanowska, M., Pope, J., Denton, C. P., & Varga, J. (2015). Systemic sclerosis. Nature Reviews Disease Primers, 1(1), 15002. https://doi.org/10.1038/nrdp.2015.2

Classification

  • Systemic sclerosis (SSc) (M/severe)
  • Localized scleroderma (LoS)
Scleroderma classification
Qualified Physicians May. (2020) What is scleroderma? – Scleroderma Foundation. Retrieved February 06, 2020, from https://www.scleroderma.org/site/SPageNavigator/patients_whatis.html;jsessionid=00000000.app361b?NONCE_TOKEN=F1165135AB0DC5048D3B6CDFC96E898C

Pathophysiology

Triad of autoimmunity, noninflammatory vasculopathy, and collagen deposition with fibrosis.

Scleroderma pathogenesis
Gabrielli, A., Avvedimento, E. V, & Krieg, T. (2009). Scleroderma. New England Journal of Medicine, 360(19), 1989–2003. https://doi.org/10.1056/NEJMra0806188

Histopathology:

Scleroderma histopathology
Gabrielli, A., Avvedimento, E. V, & Krieg, T. (2009). Scleroderma. New England Journal of Medicine, 360(19), 1989–2003. https://doi.org/10.1056/NEJMra0806188

Presentation

Classic clinical presentation is a young or middle-age woman with Raynaud phenomenon and skin changes accompanied by musculoskeletal discomfort and gastrointestinal symptoms.

Cold-induced Raynaud phenomenon:

Precipitated by exposure to cold temperature/emotional stress
  • White (vasospasm) → Blue-purple (ischemia) → Red (hyperemia)
  • M/C symptom, > 95% cases

Cutaneous manifestations:

  • Early sign: Diffuse swelling of fingers & hands (may precede skin thickening)
  • Shiny skin
  • Pigment changes
  • Skin thickening (CHARACTERISTIC)
    • Sclerodactyly: Fingers
    • Limited cutaneous systemic sclerosis: hands and forearms
    • Diffuse cutaneous systemic sclerosis: Trunk
    • Facial thickening (occurs in limited cutaneous and diffuse cutaneous subsets)
      • Difficulty opening the mouth
  • Hair loss on involved skin
  • Telangiectasia: Face, buccal mucosa, chest, and hands
  • Calcinosis cutis
  • Ulcerations (over joints)
  • Flexion contractures: Fingers, wrists, and elbows
Early dermatologic manifestations of systemic sclerosis
Early dermatologic manifestations of systemic sclerosis. (A) Diffusely puffy hands are a common initial presentation. (B) Shiny skin suggests impending skin thickening. | Hinchcliff, M., & Varga, J. (2008). Systemic sclerosis/scleroderma: a treatable multisystem disease. American family physician, 78(8), 961–968.
Dermatologic signs of vascular abnormalities in a patient with systemic sclerosis
Dermatologic signs of vascular abnormalities in a patient with systemic sclerosis. (A) Digital pitting. (B) Healing digital ulcer. | Hinchcliff, M., & Varga, J. (2008). Systemic sclerosis/scleroderma: a treatable multisystem disease. American family physician, 78(8), 961–968.

Gastrointestinal manifestations (90%): Involves entire tract

  • Gastroesophageal reflux disease (GERD) (75-90%)
  • Dysphagia, erosive esophagitis, peptic stenosis, and endo-brachy-esophagus should be ruled out.
  • Motor impairment:
    • Stomach → gastroparesis and gastric antral vascular ectasia (watermelon stomach: endoscopic finding of longitudinal rows of sacculated and ectatic mucosal vessels in the antrum of the stomach, which resemble the stripes on a watermelon) (rare)
    • Small bowel → Bacterial overgrowth (blind loop syndrome), with concomitant nutritional deficiencies (folate and vitamin B12), malabsorption (steatorrhea), and pseudo-obstruction
    • Anorectal involvement → Fecal incontinence and rectal prolapse

Musculoskeletal manifestations:

  • Joints: Arthritis, arthralgia
  • Tendons: Friction tendon rubs (hands, knees, and ankles) (DIAGNOSTIC), tenosynovitis
  • Muscles: Myalgia, weakness, inflammatory myositis (rare)
  • Difficulty making a fist (d/t puffy hands with arthralgia and myalgia)

Complications

Pulmonary manifestations (> 50%): Leading cause of death

  • Pulmonary arterial hypertension (PAH) (13% SSc)
    • Pulmonary arterial pressure average ≥ 25 mmHg (measured at rest by right catheterization)
    • Syncope, hemoptysis, and dysphonia (Ortner’s syndrome)
  • Interstitial lung disease (ILD) (90% SSc)
  • Terminal respiratory failure (12%)

Renal manifestations: #2 cause of mortality

  • Scleroderma renal crisis (SRC) (rare, 3-10%): Sudden-onset accelerated hypertension that is often associated with progressive oliguric renal failure with proteinuria, microangiopathic anemia, and microscopic hematuria.

Cardiovascular manifestations (common but only 15% symptomatic):

  • Myocardial disease
  • Conduction disorders (rare)
  • Arrhythmias
  • Pericardial disease
  • Right heart failure (in case of pulmonary disease)
Organ complications associated with systemic sclerosis
Organ complications associated with systemic sclerosis | Allanore, Y., Simms, R., Distler, O., Trojanowska, M., Pope, J., Denton, C. P., & Varga, J. (2015). Systemic sclerosis. Nature Reviews Disease Primers, 1(1), 15002. https://doi.org/10.1038/nrdp.2015.2

Diagnosis

  • PAH: Pulmonary arterial hypertension
  • ILD: Interstitial lung disease
  • SRC: Scleroderma renal crisis
Autoantibodies in scleroderma
Gabrielli, A., Avvedimento, E. V, & Krieg, T. (2009). Scleroderma. New England Journal of Medicine, 360(19), 1989–2003. https://doi.org/10.1056/NEJMra0806188

Differential diagnosis:

  • Scleredema (scleredema diabeticorum and scleredema of Buschke): Characterized by skin thickening, affecting the neck, upper back, shoulders, and trunk.
    • Raynaud phenomenon and internal organ involvement absent
  • Eosinophilic fasciitis: Characterized by edematous diffuse infiltration of the forearms and legs leadsing to adherence of skin to underlying fascia, usually sparing the hands and feet.
    • Raynaud phenomenon absent.
  • Eosinophilia-myalgia syndrome: Form of eosinophilia caused by L-tryptophan
  • Nephrogenic systemic fibrosis (caused by kidney failure): Skin changes may be indistinguishable from scleroderma, but Raynaud phenomenon typically absent
    • May have internal organ fibrosis.

Management

No definitive treatment.

  • PPI (Omeprazole)
    • For GERD manifestations

Summary

Scleroderma
Allanore, Y., Simms, R., Distler, O., Trojanowska, M., Pope, J., Denton, C. P., & Varga, J. (2015). Systemic sclerosis. Nature Reviews Disease Primers, 1(1), 15002. https://doi.org/10.1038/nrdp.2015.2

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