- Females (x4 than males)
- Systemic sclerosis (SSc) (M/severe)
- Localized scleroderma (LoS)
Triad of autoimmunity, noninflammatory vasculopathy, and collagen deposition with fibrosis.
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
- 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
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
- 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)
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)
- Pericardial disease
- Right heart failure (in case of pulmonary disease)
- PAH: Pulmonary arterial hypertension
- ILD: Interstitial lung disease
- SRC: Scleroderma renal crisis
- 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.
No definitive treatment.
- PPI (Omeprazole)
- For GERD manifestations