iatroX Rounds #31
The clues
- 1
A 48-year-old woman presents with worsening shortness of breath on exertion and a dry cough over the last six months.
- 2
She also mentions that her fingers turn white, then blue, and then red in response to cold weather, which has been happening for several years.
- 3
She describes difficulty swallowing food, feeling like it gets stuck in the middle of her chest, and suffers from frequent heartburn.
- 4
Physical examination reveals thickened, shiny skin over the fingers and hands extending proximally to the elbows, with loss of normal skin creases and telangiectasia on the face.
- 5
A chest X-ray shows bibasal reticular opacities, and lung function tests demonstrate a restrictive pattern with a significantly reduced DLCO.
- 6
Serology is positive for anti-topoisomerase I antibodies.
Systemic sclerosis is a chronic multisystem autoimmune disease characterised by widespread vascular dysfunction and progressive fibrosis of the skin and internal organs. The diffuse subtype involves skin thickening proximal to the elbows or knees and carries a higher risk of early internal organ involvement compared to the limited subtype.
- Raynaud's phenomenon often precedes other symptoms by years
- Sclerodactyly and proximal skin thickening with loss of normal skin architecture
- Oesophageal dysmotility and gastro-oesophageal reflux due to smooth muscle atrophy
- Life-limiting complications include interstitial lung disease and pulmonary arterial hypertension
for education and entertainment. not medical advice.