Connective Tissue Diseases& Dermatology

OUTLINE• Introduction• Lupus• Dermatomyositis/Polymyositis• Scleroderma

– Systemic– Localized

• Rheumatoid Arthritis

INTRODUCTION

Things to keep in mind… 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

• 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

• 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 Chronic LE (Discoid)

Systemic disease Scarring

Acute Cutaneous (Systemic) LE

CLINICAL• Rash on sun-exposed areas:

– Face, chest, shoulders, extensor arms, dorsal hands– Malar rashMalar 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

SLESLE

Acute Cutaneous (Systemic) LE

• Hand of a lupus patient– Affects phalangeal Affects phalangeal

skinskin– Spares the knucklesSpares the knuckles

• In comparison, dermatomyositis has the opposite findings!– Spares the phalangeal

skin– Affects knuckles

Raynaud phenomenon (RP)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

Raynaud Raynaud PhenomenonPhenomenon

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

• Lesions may last for months • No scarring• Most patients are white females• ~50% of SCLE pts progress to SLE~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• FACE & SCALP – MOST COMMONFACE & 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

• Plugging• Atrophy• Scale• Telangiectasia• Erythema

• Lesions endure for months • Resolve or become atrophic/scarred• Pigment alteration• Hypertrophic variant

• Conchal bowl of Conchal bowl of ears—commonly ears—commonly affected area!affected area!

Discoid LE

• Scarring alopecia with follicular plugging

Scalp hair-bearing areas

Dermatomyositis/Dermatomyositis/PolymyositisPolymyositis

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

• Heliotrope erythema of periorbit• Gottron’s sign• Gottron’s papules• Photosensitivity• Periungual erythema & telangiectases

Heliotrope rashHeliotrope rash• Pathognomonic• Periorbital edema• Periorbital violaceous discoloration

–Involves upper eyelids

Gottron’s signGottron’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 papulesGottron’s papules

Photosensitivity / PoikilodermaPhotosensitivity / 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 If you diagnose DM/PM in an adult, you must search for adult, you must search for malignancymalignancy……

Malignancy in DM/PM

• ↑ incidence of cancer in DM > PM• >50 y/o are at greatest risk

Malignancy in DM/PM

• Which cancers?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

SclerodermaScleroderma

SCLERODERMA

MULTI-SYSTEM FORMS LOCALIZED FORMS

-Morphea-Systemic Scleroderma/Sclerosis-CREST Syndrome

Rarely shows evidence of visceral involvement

Consider systemic involvement if:

-Raynaud phenomenon

-Nail fold capillary change’s

-Both

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 (RP)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

Raynaud Raynaud PhenomenonPhenomenon

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 – 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– 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 sclerodermaLimited cutaneous scleroderma””• Sx: -CCalcinosis

-RRaynaud Phenomenon-EEsophageal dysmotility-SSclerodactyly-TTelangiectasias

• Labs: Anti-centromereAnti-centromere Antibodies 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 SclerodermaLocalized Scleroderma

SCLERODERMA

MULTI-SYSTEM FORMS LOCALIZED FORMS

-Morphea-Systemic Scleroderma/Sclerosis-CREST Syndrome

Rarely shows evidence of visceral involvement

Consider systemic involvement if:

-Raynaud phenomenon

-Nail fold capillary change’s

-Both

MORPHEA

MORPHEA• Localized• Asymmetrical• No Raynauds

phenomenon• No internal organs

involved• Complications:

– RARELY contractures, growth retardation

– No ↑ mortality

SCLERODERMA• Generalized• Symmetrical• (+) Raynauds phenomenon• (+) internal organs involved• Complications:

– Significant ↑ morbidity – Significant ↑ mortality

Clinical features distinguish the 2 entities

Scleroderma vs Morphea

• Scleroderma– bound-down, tight; minor skin color change

• Morphea:– 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

MorpheaMorphea

MorpheaMorphea

Treatment

• Topical– Steroids– Calcipotriene ointment (Dovonex)

• Intralesional steroids• Systemic

– Hydrochloroquine– Oral calcitriole– Sulfasalazine

Rheumatoid ArthritisRheumatoid Arthritis

• 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

Rheumatoid Arthritis - Cutaneous Features

• 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. DermatomyositisB. PolymyositisC. LupusD. SclerodermaE. Sjogren’s

The findings are consistent with?

A. DermatomyositisB. PolymyositisC. LupusD. SclerodermaE. 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 photosensitiveC. 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 photosensitiveC. 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. DermatomyositisB. PolymyositisC. LupusD. SclerodermaE. Sjogren’s

Diagnosis?

CRESTCREST

Diagnosis?Diagnosis?

MORPHEAMORPHEA

CREST/SclerodermaDiagnosis?Diagnosis?

FINISHED!!!FINISHED!!!