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Connective Tissue Diseases
& Dermatology
OUTLINE
• Introduction
• Lupus
• Dermatomyositis/Polymyositis
• Scleroderma
– Systemic
– Localized
• Rheumatoid Arthritis
INTRODUCTION
Things to keep in mind…
• Introduce you to the physical findings in connective
tissue disease
• We’ll focus on PE findings, but remember CTD are
complicated, multi-system disorders
• Sometimes there’s overlap among the CTD’s
• These patients will need management by
Rheumatology, Dermatology, and other specialties
INTRODUCTION
DIAGNOSING CTD
• Based on clinical picture
• Antibody tests done to support diagnosis
– Provides subsets of disease
– Gives information on prognosis
SLE Classification
• American College of Rheumatology
– Having at least 4/11 is compatible with LE diagnosis
– Mnemonic: SOAP BRAIN MD
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Serositis—pericarditis, pleuritis
Oral ulcers
Arthritis—non-erosive
Photosensitivity
Blood dyscrasias—low cell counts
Renal disorder
ANA abnormality
Immunologic disorder
Neurologic disorder—seizures, psychosis
Malar rash
Discoid rash
SLE Classification
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Serositis—pericarditis, pleuritis
Oral ulcers
Arthritis—non-erosive
Photosensitivity
Blood dyscrasias—low cell counts
Renal disorder
ANA abnormality
Immunologic disorder
Neurologic disorder—seizures, psychosis
Malar rash
Discoid rash
Lupus Erythematosus
• Cutaneous lupus has 3 major subsets
– Acute Cutaneous LE (aka Systemic LE)
– Subacute Cutaneous LE (SCLE)
– Chronic Cutaneous LE (aka Discoid Lupus)
• Others
– Neonatal lupus
– Drug-induced
Clinical Spectrum of Lupus
Acute LE
Subacute Cutaneous LE
Systemic disease
Chronic LE (Discoid)
Scarring
Acute Cutaneous (Systemic) LE
CLINICAL
• Rash on sun-exposed areas:
– Face, chest, shoulders, extensor arms, dorsal hands
– Malar rash seen in only 10-50% of acute lupus
• Superficial to indurated, non-pruritic red to
violaceous papules & plaques w/ fine scale
• Various combinations of systemic involvement
Malar rash of Lupus
SLE
Acute Cutaneous (Systemic) LE
• Hand of a lupus patient
– Affects phalangeal skin
– Spares the knuckles
• In comparison,
dermatomyositis has the
opposite findings!
– Spares the phalangeal skin
– Affects knuckles
Raynaud Phenomenon
Raynaud phenomenon (RP)
• Occurs in 10-30% SLE
• Precipitated by cold or emotional stress
• Sx: Fingers and/or toes w/ pallor, cyanosis, hyperemia 
Pain, burning, numbness/tingling, swelling, hyperhidrosis
Mneumonic – Red, White, & Blue
(really white, blue, red )
Other cutaneous signs of LE
• Telangiectasia
– Palms, fingers
– Periungual
• Alopecia (20%)
– Non-scarring
– Scarring—more common with DLE
• Urticaria-like plaques
• Rheumatoid nodules
Subacute cutaneous lupus (SCLE)
• Two patterns:
– Papulosquamous patterned lesions
– Annular-polycyclic pattern lesions
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Lesions may last for months
No scarring
Most patients are white females
~50% of SCLE pts progress to SLE
Subacute cutaneous lupus
CLINICAL
• Distribution
– Trunk— most common
– Sun-exposed skin
• Subtle hypopigmentation, atrophy, & telangiectasia
• Photosensitivity, periungual telangiectasies,
vasculitis
• Systemic disease may occur, but usually not as
severe as SLE
SCLE
Sun-exposed skin
SCLE
Trunk skin (not sun-exposed)
Chronic LE (Discoid Lupus)
• Low incidence of systemic disease
– Only 5-10% evolve to SLE
• Females, 4th decade of life
• UV light initiates &
exacerbates disease
Chronic LE (Discoid Lupus)
CLINICAL
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FACE & SCALP – MOST COMMON
Round, sharply demarcated
Asymmetric
Elevated red to violaceous flat topped
plaques
Adherent scale  “carpet tacking”
Atrophy
Scarring/scarring alopecia
Hypopigmentation
Follicular plugs
Discoid Lupus
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Plugging
Atrophy
Scale
Telangiectasia
Erythema
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Lesions endure for months
Resolve or become atrophic/scarred
Pigment alteration
Hypertrophic variant
• Conchal bowl of
ears—commonly
affected area!
Discoid LE
• Scarring alopecia with follicular plugging
Scalp hair-bearing areas
Dermatomyositis/Polymyositis
DM/PM
• Epidemiology
– Bimodal distribution
• Juvenile form
• Adult form (>40 yrs)
– Males = females
– Blacks to whites = 4:1
Dermatomyositis & Polymyositis
TYPES:
(1) Dermatomyositis (DM)
– Both muscle weakness & skin changes
(2) Polymyositis (PM)
– Muscle weakness, but NO skin changes
(3) Amyopathic Dermatomyositis
– Skin changes only
– NO muscle weakness
Muscle weakness in DM and PM
• Symmetric & proximal muscle weakness
– Hips/thighs characteristic
• eg. Difficult rising from chair
– Neck commonly affected
• eg. Drooped head
– Other muscles can be involved
• Pharyngeal, respiratory chest wall
Skin manifestation of DM
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Heliotrope erythema of periorbit
Gottron’s sign
Gottron’s papules
Photosensitivity
Periungual erythema & telangiectases
Heliotrope rash
• Pathognomonic
• Periorbital edema
• Periorbital violaceous discoloration
–Involves upper eyelids
Gottron’s sign
• Symmetric, violaceous-to-erythematous
macules/patches over bony prominences
– knuckles, but spares phalanges
– Elbows & knees
• Gottron’s papules
– smooth, violaceous papules
– knuckles, side of fingers
Gottron’s papules
Photosensitivity / Poikiloderma
• typically on sun-exposed skin on trunk
Dermatomyositis
• Periungual erythema
– ragged cuticles
• Telangiectases
– dilated/plump capillary loops
If you diagnose DM/PM in an adult,
you must search for malignancy…
Malignancy in DM/PM
• ↑ incidence of cancer in DM > PM
• >50 y/o are at greatest risk
Malignancy in DM/PM
• Which cancers?
– Women
• Ovarian #1
• Breast, lymphoproliferative
– Men
• Prostate, colon, lymphoma, testicular
Work-up of DM/PM
• Diagnostic tests
– Skin biopsy
– Muscle enzymes—CK, ALT, AST, LDH, Aldolase
– Muscle biopsy
– MRI of muscles
• help locate muscles to biopsy, document flare-ups
– EMG
– Antibody screen:
• 90% ANA+
• Check Ro, La, Sm, nRNP, Jo-1, PM-1, Mi-2
– Presence can help define associated diseases
Scleroderma
SCLERODERMA
MULTI-SYSTEM FORMS
-Systemic Scleroderma/Sclerosis
-CREST Syndrome
Consider systemic involvement if:
-Raynaud phenomenon
-Nail fold capillary change’s
-Both
LOCALIZED FORMS
-Morphea
Rarely shows evidence of
visceral involvement
PROGRESSIVE SYSTEMIC SCLEROSIS
(SCLERODERMA)
Systemic Scleroderma
• Characterized by
– sclerosis of the skin
– sclerosis of visceral organs
– vasculopathy (Raynaud’s)
– autoantibodies
• 2-12 case/1 million each year
Scleroderma—subtypes
• Systemic
– Diffuse scleroderma
– CREST syndrome
• Localized
– Morphea
Scleroderma—subtypes
• Systemic
– Diffuse scleroderma
• Skin – more extensive involvement
• Visceral – early appearance
• Worse prognosis
– CREST syndrome
• Skin – limited (face, fingers)
• Visceral – delayed appearance
• Better prognosis
Raynaud’s phenomenon
Raynaud Phenomenon
Raynaud phenomenon (RP)
• One of the major criteria for scleroderma
• Precipitated by cold or emotional stress
• Sx: Fingers and/or toes w/ pallor, cyanosis, hyperemia 
Pain, burning, numbness/tingling, swelling, hyperhidrosis
Mneumonic – Red, White, & Blue
(really white, blue, red )
Skin changes in Systemic Scleroderma
• Skin Changes
– Begin distally
• fingers, hands
• face
– Progresses proximally
– 3 stages
• 1) Edematous
• 2) Indurated/sclerotic
• 3) Atrophic
Skin changes in Systemic Scleroderma
• Edematous phase
– Skin thickened, swollen, tense
– Non-pitting edema
• “mask-like facies”
• “sausaging” of the fingers
Skin changes in Systemic Scleroderma
• Indurative/Sclerotic
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Skin hardened, bound down
Restricted range of motion
Contractures
Appendageal atrophy  hair loss,
anhidrosis
– Ulcerations, telangiectasia, and
atrophy
– Fingers narrow or taper distally
– Distal phalanges shortened due to
bone resorption
• Atrophic
Skin changes in Systemic Scleroderma
Skin changes in Systemic Scleroderma
• The face of scleroderma
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Skin contracts, fixed to bone
Beaked nose
Furrowed perioral skin
Smaller oral aperture
Thinned lips
Facial telangiectases
Skin changes in Systemic Scleroderma
• Telangiectasias
– Flat/macular
– Rectangular collections of uniform, tiny vessels
– Lips, face, palms, back of hands
• Calcinosis cutis (CC) can be a late sequela to skin inflam
• CC occurs at sites of trauma
– Buttocks, elbows, knees, fingers, around shoulders
• Complications: local pain, contractures, infections
• SKIN MORPHOLOGY: Hard, irregular nodules draining
whitish, chalky material  Extrusion leads to ulcers, sinuses,
or cellulites
Multi-organ involvement in Scleroderma
• Gastrointestinal
– Esophagel dysfunction
• Dysphagia – most common
• Other symptoms: GERD, strictures
Multi-organ involvement in Scleroderma
• Respiratory
– Frequent cause of death
– Dyspnea—most common symptom
– Interstitial fibrosis
– Pulmonary hypertension (33%)
Multi-organ involvement in Scleroderma
• Renal
– Renal disease
– HTN
• Cardiovascular
– Myocardial fibrosis  arrhythmias
• Salivary
– Sclerosis of salivary glands  Sjogren’s-like
CREST syndrome
• aka “Limited cutaneous scleroderma”
• Sx:-Calcinosis
-Raynaud Phenomenon
-Esophageal dysmotility
-Sclerodactyly
-Telangiectasias
• Labs: Anti-centromere Antibodies
• More benign, chronic, and localized
• Better Prognosis!!!
CREST syndrome
• Calcinosis cutis
– Palmar tips of fingers
– Over bony prominences of knees, elbows, spine,
and iliac crests
Localized Scleroderma
SCLERODERMA
MULTI-SYSTEM FORMS
-Systemic Scleroderma/Sclerosis
-CREST Syndrome
Consider systemic involvement if:
-Raynaud phenomenon
-Nail fold capillary change’s
-Both
LOCALIZED FORMS
-Morphea
Rarely shows evidence of
visceral involvement
MORPHEA
Clinical features distinguish the 2 entities
SCLERODERMA
MORPHEA
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Generalized
Symmetrical
(+) Raynauds phenomenon
(+) internal organs involved
Complications:
– Significant ↑ morbidity
– Significant ↑ mortality
Localized
Asymmetrical
No Raynauds phenomenon
No internal organs involved
Complications:
– RARELY contractures,
growth retardation
– No ↑ mortality
Scleroderma vs Morphea
• Scleroderma
– bound-down, tight; minor skin color change
• Morphea:
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Small purplish induration
Become discolored, thicker, firm, hairless, ivory-colored
Smooth, dull, white, waxy surface
Violaceous or lilac-colored active inflammatory border
Atrophy, mottled brown hyperpigmentation
Can have guttate form
Morphea
Morphea
Treatment
• Topical
– Steroids
– Calcipotriene ointment (Dovonex)
• Intralesional steroids
• Systemic
– Hydrochloroquine
– Oral calcitriole
– Sulfasalazine
Rheumatoid Arthritis
Rheumatoid Arthritis - Cutaneous Features
• Rheumatoid Nodules
– Rare in kids w/ JIA
• If seen, M/C seen in (+)RF polyarthritis
– M/C location  near olecranon process on ulnar forearm
• Other common areas: dorsal hands, knees, ears, & pressure pts
– Firm, non-tender
• Cuticular telangiectasias
– Can be seen in RA pts, but they are M/C &
characteristic in pts w/ LE, scleroderma,
dermatomyositis
Ready for a QUIZ?
The findings are consistent with?
A.
B.
C.
D.
E.
Dermatomyositis
Polymyositis
Lupus
Scleroderma
Sjogren’s
The findings are consistent with?
A.
B.
C.
D.
E.
Dermatomyositis
Polymyositis
Lupus
Scleroderma
Sjogren’s
This 50 year old patient was recently diagnosed with a
connective tissue disease. Which of the following is likely to
be FALSE?
A. She has trouble running
and climbing stairs.
B. She is photosensitive
C. She may develop a
malignancy within one
year
D. She has renal disease
This 50 year old patient was recently diagnosed with a
connective tissue disease. Which of the following is likely to
be FALSE?
A. She has trouble running
and climbing stairs.
B. She is photosensitive
C. She may develop a
malignancy within one
year
D. She has renal disease
What the diagnosis?
• Systemic lupus erythematosus
What the diagnosis?
• Dermatomyositis
What the diagnosis?
• Discoid Lupus
What the diagnosis?
• Lupus
Lupus
Dermatomyositis
What the diagnosis?
• Discoid Lupus
The findings are consistent
with?
A.
B.
C.
D.
E.
Dermatomyositis
Polymyositis
Lupus
Scleroderma
Sjogren’s
Diagnosis?
CREST
Diagnosis?
MORPHEA
Diagnosis?
CREST/Scleroderma
FINISHED!!!