Scleroderma (systemic sclerosis) Flashcards
F:M predominance and age of onset of Scleroderma:
- 3:1 F:M
- typical onset at 30-50 y/o
What are the three main pathogeneic factors of Scleroderma?
- vascular dysfunction (primarily affecting microcirculation)
- Immune dysregulation (autoantibodies—> increased production of profibrotic cytokines line TGF-B
- Excess collagen/ECM protein deposition in skin and internal organs
Describe the vascular dysfunction in Scleroderma
- primarily involving microcirculation and leading to:
- endothelial injury
- vascular leakage
- abnormal vasospasm
- luminal obstruction
- capillary destruction
What are the major autoantibodies a/w Scleroderma?
- anti-Scl70
- anti-centromere
What is the mechanism by which excess ECM/collagen is produced in Scleroderma?
-increased production of profibrotic cytokines (TGF-B, Scleroderma, IL-2, IL 13, PDGF, endothelin 1)—–> accumulation of myofibroblasts in affedcted tissues—> excess collagen production (predominantly I and III)
List the skin findings of scleroderma
- skin thickening of fingers
- digital tip ulcers
- fingertip pitting scars
- matted telangiectasias (CREST mostly)
- abnormal nail fold capillaries (dilated capillary loops alternating with drop out)
- Raynaud’s phenomenon
- salt and peppering of skin pigmentation (loss of pigment, with retention of perifollicular pigment)
- calcinosis cutis of digits
What other organ systems can be affected by Scleroderma?
- GI (most common extra cutaneous involvement)
- pulmonary (most common cause of death)
- Cardiovascular (restrictive cardiomyopathy)
- Renal (scleroderma renal crisis)
Describe the telangiectasias seen in Scleroderma
Matted (smooth with squared off edges)
nailfold findings in Scleroderma:
- dilated capillary loops alternating with dropout
Scleroderma that affects the lungs can lead to ____ and ____
- pulmonary arter HTN
- Interstitial lung disease
What can be the presenting sign of Scleroderma on the hands before skin tightening/thickening occurs?
pitting edema of the digits (50% present with this)
What is the definition of limited systemic sclerosis?
- limited involvement of distal extremities (distal to MCP/MTP joints) and face
- lacks severe renal/pulmonary involvement (but commonly see isolated pulmonary artery HTN)
CREST is a variant of ______ and stands for:
variant of limited systemic sclerosis
- Calcinosis cutis
- Raynaud’s
- esophageal dysmotility
- matte telangiectasias)
Raynauds plus positive serology c/w scleroderma is called_____
- Systemic sclerosis sine scleroderma
Diffuse systemic sclerosis is defined as involving______ and is a/w (more/less oran involvement) and (better or worse prognosis)
- involves distal and proximal extremities and trunk (as well as face)
- more severe visceral involvement
- worse prognosis
What are the characteristic findings on face on patient with scleroderma?
Beaked nose and microstomia
Dyspigmentation in scleroderma can present in two ways:
- diffuse hyperpigmentation in sun-exposed areas or pressure related areas
- hypopigmentation of upper trunk/face with perifollicular sparing (salt and pepper sign)
Besides capillary drop out, what nail findings can be seen in scleroderma?
pterygium inversum unguis ( extension of hyponychium on undersurface of nail plate)
Most common cause of mortality in scleroderma:
pulmonary disease (ILD or PAH)
Cardiovascular involvement of scleroderma can cause____
restrictive cardiomyopathy
- also have increased risk of MI, atherosclerosis and stroke
Is GI involvement a/w increased morbidity/mortality in scleroderma?
increased morbidity, but no increase in mortality
GI involvement in scleroderma can cause:
- esophageal dysmotility
- gastroparesis
- watermelon stomach (gastric antral vascular ectasia)
- weak rectal tone
how does scleroderma renal crisis present?
rapidly rising creatinine
- ACE-I will decrease risk of this occurring
How to decrease risk of scleroderma renal crisis?
ACE-I
Histopath of scleroderma?
- same as morphea:
- pale edematous papillary dermis
- square biopsy sign
- loss of pilosebaceous units/periadnexal fat
- eccrine glands trapped by collagen
Labs to test in scleroderma:
- ANA + >90%
- Anti-centromere (a/w limited SSc> diffuse)
- anti-Scl70 (diffuse > limited SSc)
Treatment of Scleroderma:
most important is control of internal organ involvement
- renal: ACE-I
- GI: PPI for GERD
- Pulmonary: cyclophosphamide, rituxan, MMF for ILD and endothelin receptor antagonists for PAH
- Cardiac involvement: anti HTN
- for Raynaud’s= CCB
- for calcinosis cutis= surgical excision (can recur) and extracorporeal shock-wave lithotripsy
Screen for ILD in scleroderma patients with_____
High res CT and PFT’s
What are the two earliest and most common presenting features of scleroderma?
hand edema and raynauds
