Dermatology
Systemic Sclerosis (Scleroderma) and Related Disorders
Built from Dermatology, 5th Edition
What’s inside
15 sections · 140 slides
What systemic sclerosis is
An uncommon autoimmune disease that hardens the skin and can affect the blood vessels and internal organs - who gets it, and how it is classified.
- What is systemic sclerosis
- Two major clinical subtypes
- Other diseases that harden skin like SSc
- Major clinical variants of systemic sclerosis and related conditions
- Major clinical and laboratory manifestations of systemic sclerosis and other selected conditions characterized by cutaneous induration
- Major clinical and laboratory manifestations of systemic sclerosis and other selected conditions characterized by cutaneous induration (continued)
- Reading the manifestations table
- History
- Epidemiology
- Prognosis
Pathogenesis
The cause is unknown, but three processes interact: damaged blood vessels, an overactive immune system, and excess collagen deposition in tissue.
- Three interacting abnormalities
- How endothelial cells, leukocytes, and fibroblasts interact
- Vascular dysregulation
- From vessel damage to symptoms
- Immune dysregulation - key autoantibodies
- Evidence that autoantibodies cause damage
- T cells and B cells in SSc
- Innate immunity and interferons
- Extracellular matrix dysregulation
- The fibroblast question
Classification and diagnosis
How the 2013 ACR/EULAR criteria define SSc, how diffuse and limited disease differ, and what CREST syndrome and sine scleroderma mean.
- Why classification criteria matter
- 2013 ACR/EULAR criteria for the classification of systemic sclerosis
- A note on the weight/score column
- Scoring the 2013 criteria
- Clinical classification of systemic sclerosis
- Diffuse versus limited disease
- Comparison of clinical and laboratory features of diffuse and limited systemic sclerosis
- Comparison of clinical and laboratory features of diffuse and limited systemic sclerosis (continued)
- CREST syndrome
- Systemic sclerosis sine scleroderma
Cutaneous features
The skin changes that make SSc recognisable - from early swelling through hardening to late thinning, plus pigment change, vessels, and calcium deposits.
- Three phases of skin change
- Early edematous phase of systemic sclerosis
- Pitted scars of the digital pulp
- What advanced hardening looks like
- Late-stage diffuse cutaneous systemic sclerosis
- Pigment change: the salt and pepper sign
- The salt and pepper sign of systemic sclerosis
- Salt and pepper sign in a second patient
- Telangiectasias and nail-fold vessels
- Mat telangiectasias in systemic sclerosis
- Mat telangiectasias on the palm
- Sweating, hair, and how it feels to patients
- Pitted scars of the digital pulp in a second patient
- Calcinosis cutis
- Calcinosis cutis of the finger
Raynaud phenomenon
Cold-triggered vasospasm of the fingers - how to tell the common, benign primary form from the disease-associated secondary form.
- What is Raynaud phenomenon
- Primary versus secondary Raynaud phenomenon
- Clinical and laboratory features of primary and secondary Raynaud phenomenon
- Clinical and laboratory features of primary and secondary Raynaud phenomenon (continued)
- Raynaud phenomenon in early systemic sclerosis
- Working up a patient with Raynaud phenomenon
- Evaluation of the patient with Raynaud phenomenon
- Differential diagnosis of Raynaud phenomenon
- Differential diagnosis of Raynaud phenomenon
- Differential diagnosis of Raynaud phenomenon (continued)
- Differential diagnosis of Raynaud phenomenon (continued)
- Rare Raynaud mimics
- Raynaud phenomenon in sclerotic chronic graft-versus-host disease
- Raynaud phenomenon before and after botulinum toxin injection
Cutaneous ulcers
Skin breakdown from ischemia or repeated trauma, and its risk of infection or amputation.
- Cutaneous ulcers in systemic sclerosis
- Cutaneous ulcerations in systemic sclerosis
Internal organ involvement
The gastrointestinal tract, lungs, heart, and kidneys are the organs most often affected - and lung disease is now the leading cause of death.
- Internal organ involvement drives outcomes
- Two forms of lung disease
- Screening and treating each organ system
- Internal organ involvement in systemic sclerosis - screening tools
- Internal organ involvement in systemic sclerosis - treatment options
- Internal organ involvement in systemic sclerosis - treatment options (continued)
- Reading the screening/treatment table
Autoantibodies
Autoantibody testing supports the diagnosis and predicts which pattern of disease a patient is likely to have.
- Autoantibody testing in diagnosis
- What each antibody predicts
Pathology
What hardened SSc skin looks like under the microscope, and why immunofluorescence and biopsy findings can overlap with other sclerosing diseases.
- Histologic findings in cutaneous sclerosis
- Systemic sclerosis - histopathologic features
- Immunofluorescence and vessel findings
Differential diagnosis of sclerodermoid conditions
A wide range of immunologic, paraneoplastic, metabolic, neurologic, toxin-related, and genetic disorders can mimic systemic sclerosis.
- Sclerodermoid versus morpheaform
- Differential diagnosis of sclerodermoid conditions
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
- Differential diagnosis of sclerodermoid conditions (continued)
Treatment
Therapy centres on internal organ involvement - effective treatment for cutaneous sclerosis itself remains limited.
- The treatment challenge in SSc
- Raynaud phenomenon: first-line therapy
- Raynaud phenomenon: vasodilator drugs
- Raynaud phenomenon: further options
- Treating digital ulcers
- Ulcer wound care
- Measuring skin sclerosis
- Drugs that did not clearly help
- Drugs with some supporting evidence
- Other drugs tried
- Calcinosis cutis and telangiectasia treatment
- Cutaneous features of systemic sclerosis - possible treatments
- Cutaneous features of systemic sclerosis - possible treatments (continued)
- Internal organ treatment: kidney
- Interstitial lung disease: immunosuppression
- Newer ILD drugs: nintedanib and tocilizumab
- Treating pulmonary arterial hypertension
- IVIg, imatinib, rituximab, and stem cell transplant
Eosinophilic fasciitis
A fasciitis (deep tissue inflammation) causing rapid-onset limb hardening, with a raised eosinophil count and a distinctive "groove sign."
- What is eosinophilic fasciitis
- How it presents
- Eosinophilic fasciitis - clinical features
- Laboratory findings
- Pathology
- Eosinophilic fasciitis - histopathologic features
- Eosinophilic fasciitis - diagnostic criteria
- Treatment
Stiff skin syndrome
A rare, congenital or early-childhood disorder of "rock hard" skin caused by a mutation in the fibrillin-1 gene.
- What is stiff skin syndrome
- Cause
- Clinical features
- Stiff skin syndrome
- Variants and overlap with other conditions
- Linear melorheostotic scleroderma
- Pathology and treatment
Sclerodermoid syndromes induced by exogenous substances
Drugs, chemicals, and other environmental exposures - from gadolinium contrast to contaminated food and industrial silica - that can trigger skin sclerosis.
- Nephrogenic systemic fibrosis: background
- How NSF presents
- Nephrogenic systemic fibrosis - clinical features
- Nephrogenic systemic fibrosis: thickening, plaques, and scleral involvement
- NSF pathology and treatment
- Nephrogenic systemic fibrosis - histopathologic features
- Toxic oil syndrome
- Eosinophilia-myalgia syndrome
- Other chemical exposures
- Silicosis
- Drug-induced sclerosis
Summary
Pulling it all together: what to recognise, what to screen for, and where treatment still falls short.
- Key takeaways
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Dermatology, 5th Edition (2-Volume Set)