Connective Tissue Diseases & Dermatology

1. Connective Tissue Diseases& Dermatology

2. OUTLINE • Introduction • Lupus • Dermatomyositis/Polymyositis • Scleroderma • Systemic • Localized • Rheumatoid Arthritis

3. 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

4. INTRODUCTION DIAGNOSING CTD • Based on clinical picture • Antibody tests done to support diagnosis • Provides subsets of disease • Gives information on prognosis

6. SLE Classification • American College of Rheumatology • Having at least 4/11 is compatible with LE diagnosis • Mnemonic: SOAP BRAIN MD • Serositis—pericarditis, pleuritis • Oralulcers • Arthritis—non-erosive • Photosensitivity • Blood dyscrasias—low cell counts • Renal disorder • ANA abnormality • Immunologic disorder • Neurologic disorder—seizures, psychosis • Malarrash • Discoidrash

7. SLE Classification • Serositis—pericarditis, pleuritis • Oralulcers • Arthritis—non-erosive • Photosensitivity • Blood dyscrasias—low cell counts • Renal disorder • ANA abnormality • Immunologic disorder • Neurologic disorder—seizures, psychosis • Malarrash • Discoidrash

8. 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

9. Clinical Spectrum of Lupus Acute LE Subacute Cutaneous LE Chronic LE (Discoid) Systemic disease Scarring

12. 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

14. Malar rash of Lupus

15. SLE

16. 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

17. 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 )

18. Other cutaneous signs of LE • Telangiectasia • Palms, fingers • Periungual • Alopecia (20%) • Non-scarring • Scarring—more common with DLE • Urticaria-like plaques • Rheumatoid nodules

20. 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

21. 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

22. SCLE Sun-exposed skin

23. SCLE Trunk skin (not sun-exposed)

25. 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

26. Chronic LE (Discoid Lupus) CLINICAL • 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

27. Discoid Lupus • Plugging • Atrophy • Scale • Telangiectasia • Erythema • Lesions endure for months • Resolve or become atrophic/scarred • Pigment alteration • Hypertrophic variant

28. Conchal bowl of ears—commonly affected area!

29. Discoid LE • Scarring alopecia with follicular plugging Scalp hair-bearing areas

30. Dermatomyositis/Polymyositis

31. DM/PM • Epidemiology • Bimodal distribution • Juvenile form • Adult form (>40 yrs) • Males = females • Blacks to whites = 4:1

32. 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

33. 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

34. Skin manifestation of DM • Heliotrope erythema of periorbit • Gottron’s sign • Gottron’s papules • Photosensitivity • Periungual erythema & telangiectases

35. Heliotrope rash Pathognomonic Periorbital edema Periorbital violaceous discoloration Involves upper eyelids

36. Gottron’s sign • Symmetric, violaceous-to-erythematous macules/patches over bony prominences • knuckles, but spares phalanges • Elbows & knees

37. Gottron’s papules • smooth, violaceous papules • knuckles, side of fingers

38. Gottron’s papules

39. Photosensitivity / Poikiloderma • typically on sun-exposed skin on trunk

40. Dermatomyositis • Periungual erythema • ragged cuticles • Telangiectases • dilated/plump capillary loops

41. If you diagnose DM/PM in an adult, you must search for malignancy…

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

43. Malignancy in DM/PM • Which cancers? • Women • Ovarian #1 • Breast, lymphoproliferative • Men • Prostate, colon, lymphoma, testicular

44. 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

45. Scleroderma

46. Consider systemic involvement if: -Raynaud phenomenon -Nail fold capillary change’s -Both Rarely shows evidence of visceral involvement

47. PROGRESSIVE SYSTEMIC SCLEROSIS (SCLERODERMA)

48. Systemic Scleroderma • Characterized by • sclerosis of the skin • sclerosis of visceral organs • vasculopathy (Raynaud’s) • autoantibodies • 2-12 case/1 million each year

49. Scleroderma—subtypes • Systemic • Diffuse scleroderma • CREST syndrome • Localized • Morphea

50. 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