Systemic sclerosis (scleroderma) is an autoimmune disease in which damage to small blood vessels and overactive fibroblasts cause thick, tight skin and scarring of internal organs. Lung fibrosis, pulmonary hypertension and kidney crisis are the main threats to life.
Key symptoms
- Fingers turning white, blue, then red in the cold (Raynaud phenomenon)
- Puffy fingers, then tight, thick skin of the hands and face
- Heartburn and trouble swallowing
- Shortness of breath and dry cough on exertion
- Joint pain, stiffness and fatigue
What you find on exam
- Skin thickening of fingers (sclerodactyly), forearms or face, scored with the modified Rodnan skin score
- Digital ulcers or pitting scars at the fingertips
- Small dilated vessels on face and hands (telangiectasias) and calcium deposits under the skin
- Fine dry crackles at the lung bases
- Blood pressure, since a sudden rise may signal kidney crisis
Tests
- Antinuclear antibodies, plus anti-centromere, anti-topoisomerase I (Scl-70) and anti-RNA polymerase III
- Creatinine, urinalysis and blood count
- Pulmonary function tests with DLCO and high-resolution chest CT
- Echocardiogram to screen for pulmonary hypertension
Treatment basics
- Raynaud: keep warm, stop smoking, nifedipine or amlodipine
- Proton pump inhibitor such as omeprazole for reflux
- Lung disease or progressive skin: mycophenolate, with nintedanib or tocilizumab in selected patients
- Scleroderma renal crisis: an ACE inhibitor such as captopril right away
- Team care with rheumatology, physical therapy and regular organ screening
Red flags
- New severe hypertension, headache or falling urine output (renal crisis)
- Fingertip ulcer turning black or a cold, painful digit
- Worsening breathlessness, chest pain or fainting
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Sources: NCCPA PANCE Content Blueprint; NBOME COMLEX-USA clinical presentations; AAMC Core Entrustable Professional Activities (Core EPAs). Written by Making Synapses. Making Synapses is not affiliated with these organizations.