Definition:
A chronic connective tissue disorder leading to widespread fibrosis
Pathophysiology:
Immune damage to endothelial cells -> ROS, cytokines -> fibroblasts -> increased collagen deposition (of normal composition) + skin thickening
Presentation:
- Raynaud phenomenon
- Skin: [degree of involvement predicts prognosis]: cutaneous fibrosis -> sclerodactyly (claw-like appearance of the hands), calcinosis cutis (subcutaneous calcification), “mouse-like” face and “purse-string” mouth
- GI: dysphagia\reflux from esophageal immobility (90%), bowel dilatation
- Pulmn: [MCC of death in scleroderma]: interstitial fibrosis, pulmn HTN
- Scleroderma renal crisis: malignant HTN, ARF
- Cardiac: myocardial fibrosis and pericarditis
- Endocrine: amenorrhea, infertility, hypothyroidism
Sclerodactyly
Calcinosis cutis
“Mouse-like” face
Diagnosis:
- ↑ ANA (sensitive, not specific)
- Anti-centromere: very specific for the limited form
- Anti-topoisomerase I: very specific for the diffuse form
Treatment:
No cure, symptomatic treatment, organ-based approach:
- D-penicillamine for skin
- Ca channel blocker for Raynaud
- ACE for renal HTN
Download the PDF version: here
References:
- Step up to medicine
- Pocket medicine
- Toronto notes
