Systemic
Sclerosis
(Scleroderma)
Epidemiology and Etiology:
- Unknown etiology
- F:M 3:1
- 50-60y peak age
Common sites:
- Skin
- GI tract (90%)
- Most severe in the
esophagus, lower 2/3rds
- Kidneys
- Heart
- Muscles
- Lungs
Gross features:
Histologic features:
- GI tract:
- progressive
atrophy and collagenous fibrous replacement of the muscularis
- absence
of vacuolar degeneration (as opposed to hollow visceral myopathy)
- absence
of inflammatory infiltrate associated
- absence
of significant number of fibroblasts
- may be
abrupt demarcations between normal and severely fibrotic muscle
- thickness
of the fibrotic muscle is variable
- Barrett esophagus
secondary to GERD
- Loss of villi and
microvilli
Immunophenotype:
Marker:
|
Sensitivity:
|
Specificity:
|
|
|
|
Molecular features:
Other features:
- 2 major categories
clinically:
- diffuse
scleroderma – diffuse skin involvement at onset with rapid progression
and early visceral involvement
- limited
scleroderma – skin involvement confined to fingers, forearms, and face
- CREST
syndrome may be present:
- Calcinosis
- Raynaud
phenomenon
- Esophageal
dysmotility
- Sclerodactyly
- Telangiectasia
- Esophageal
involvement:
- Dysfunction of LES
– GERD
- malabsorption
- common causes
of death:
- renal failure
- cardiac failure
- pulmonary
insufficiency
- intestinal
malabsorption
References: