SCLERODERMA

Virginia Steen, MD
Professor of Medicine
 Scleroderma

• Localized Scleroderma
– Morphea
– Linear Scleroderma
– En Coup de Sabre (Progressive
Hemi-atrophy)
– Pansclerotic, Deep subcutaneous
 Linear Scleroderma

Hyperpigmented,
Linear, Muscle atrophy
single extremity but normal strength
 Linear Scleroderma

Severe contractures, growth disturbances, atrophy

 Systemic Sclerosis
An uncommon disease 250/million population,
20 new cases/ million per year, about
80- 150,000 in US
Age onset usually 30-50 years, rare under 10.
Female 3-5: 1; Increased in African-Americans
Multisystem disease - Raynauds, digital ulcers,
arthritis, tendon inflammation, skin thickening,
myopathy, gastrointestinal, lung, heart and
kidney involvement
Survival – decreased primarily from severe lung
involvement, pulmonary fibrosis and pulmonary
hypertension
 Diagnosis

• Clinical diagnosis by Rheumatologist

– Raynaud’s
– Swollen fingers and/or skin thickening of
hands/face
– Esophageal symptoms-GERD.
– Other organs-
• Small intestines
• Pulmonary Fibrosis
• Pulmonary Hypertension
• Cardiac or Kidney involvement
 Laboratory Diagnosis
• Laboratory - not required
– Antibodies helpful for prognosis, but not
necessary for diagnosis ( even ANA can
be negative)
– There can be false positives, particularly
slightly positive tests
– GI x-rays supportive but not required for
diagnosis
Clinical features associated with
limited and diffuse scleroderma

Limited cutaneous Diffuse cutaneous

Raynaud’s -1st symptom, Raynaud’s often delayed
alone for many years Acute onset, a lot of
Milder general symptoms constitutional symptoms
Milder joint symptoms Arthralgias, carpal tunnel
Tendon friction rubs
Puffy FINGERs Swollen, puffy HANDs
Limited skin thickening Early diffuse skin
Anti-centromere antibody Anti-Scl 70 antibody
Anti-RNA polymerase III
 NATURAL HISTORY OF
Contractures SCLERODERMA SUBSETS
Renal crisis
50 Myocardial failure
S
KI Pulmonary
N 40 fibrosis
Diffuse scleroderma
T
HI 30
C
K
N 20

E Pulmonary
S Limited scleroderma hypertension
S 10 Malabsorption

5 10 15 20

DISEASE DURATION (YEARS)

RAYNAUD’S
Digital Ulcers
... and can lead to auto-
amputation
Skin Thickening
Swollen Hands
Early Scleroderma
Puffy Phase
 Evaluation of Skin
Thickening
Rodnan Skin Score
17 different sites-
Score 0 to 3
Total 51
Limited - <12
Diffuse >12

Measuring skin thickness.

Other Measures- Health Assessment
Rodnan Skin Score Questionnaire
Medsger Severity Scale (only research)
 Joint and Tendon
• Hand swelling, joint pain and stiffness-
fingers, wrists, swelling/puffiness, other
joints also
• Contractures- hands, wrists, hips,
shoulders, elbows.
• Acroosteolysis- deformity causing loss of
function
• Tendon rubs- painful- hands, arms, ankles,
knees
Sclerodactyly
Hand Contractures
CALCINOSIS
ACROOSTEOLYSIS
Systemic Sclerosis-
Multisystem Disease
Gastrointestinal Involvement
• Esophageal- trouble swallowing, heartburn,
reflux, potential aspiration
• Stomach –bloating, inability to eat full meals,
need to eat small frequent meals
• Small Intestine- malabsorption, diarrhea,
pseudo obstruction, bacterial overgrowth,
weight loss, need for hyperalimentation.
• Large Intestine- constipation, rectal prolapse
• Rectum- fecal incontinence
 PULMONARY PROBLEMS
IN SYSTEMIC SCLEROSIS

• Pleurisy, pleural effusions, pleural scarring

• Spontaneous pneumothorax (bronchiectasis)
• Aspiration pneumonia
• Malignancy-all cell types
• BOOP
• Interstitial fibrosis
• Pulmonary vascular disease (PHT)
 Pulmonary Fibrosis
• Shortness of breath with activity
• Fatigue with activity
• Pulmonary function tests- Decreased
FVC, TLC and DLCO, restrictive disease
• CT scan of lung- scarring, honeycombing
• Begins early in disease and progresses
slowly or rapidly, major cause of death
 Pulmonary Hypertension
• Shortness of breath and fatigue with
exercise
• Occurs later in illness
• More common in limited scleroderma
• Low DLCO on PFTs, and high PAP
on echo
• Most common cause of death
 Heart and Kidney

• Less common but more serious

• Heart- Pericarditis, pericardial
effusion, cardiomyopathy, rhythm
problems, heart failure
• Kidney- Malignant hypertension,
kidney failure, dialysis.
 Disability in Limited
Scleroderma
– Usually after a long history of
Raynaud’s, (unless digital ulcers)
– Pain, fatigue, GI symptoms
– Loss of hand function – digital ulcers,
loss of mobility/dexterity, fine motion
– Fatigue/shortness of breath- anemia,
weight loss, GI, pulmonary
fibrosis/hypertension.
 Special Situations
• Raynaud’s – can be disabling without ulcers, if job
is outdoors, requires cold exposure (meat cutter)
• Limited skin- can be disabling even without
contractures if very swollen, late acroosteolysis,
need for fine motion
• GI –can be very disabling - with severe reflux,
vomiting, difficulty swallowing, fatigue, inability to
eat, weight loss
•
 Disability in Diffuse
Scleroderma
– Early in Disease- mostly from
progressive skin thickening, pain,
fatigue, weight loss, contractures,
digital ulcers.
– Pulmonary fibrosis
– Heart and Kidney
 Special Consideration

• Most diffuse scleroderma patients

have enough problems that they are
disabled.
• While some diffuse scleroderma
patients are able to continue
working, it is usually because they
are professionals and have a very
flexible work situation.