Connective tissue diseases

ByDr.Alaa A. NaifApril 05, 2015

Lupus Erythematosus

Types of lupus erythematosus Chronic cutaneous

lupus erythematosus(DLE)

Subacute cutaneous lupus erythematous

(SCLE)

Acute cutaneous lupus

erythematous(SLE)Involve epidermis and

lower dermisInvolve epidermis and upper

dermisInvolve epidermis and upper

dermis

Don’t have systemic dis.(5-10% develop SLE)

Majority don’t have systemic disease

Systemic disease is present

Scarring , dyspigmentation, atrophy and follicular

plugging are prominent.Skin lesions involve face,

scalp and ears

Photosensitivity is Prominent

Shawl distribution of skin lesions(sun exposed areas)

Dx requires four criteria out of eleven and exclusion of

drug-induced SLE

F>M Anti-Ro(SSA)Anti-La(SSB)

F>M ANA and anti-DNA and anti-

smith

Pathogenesis

Infectious agent e.g viral cross react with self-antigen in person with genetic background

Perpetuating factors:Ultraviolet lightSex hormones

Stress

SLE criteria(4 out of 11)

Malar(butterfly) rashDiscoid lesionsPhotosensitivityOral ulcerArithritisSerositis e.g. pleuritis, pericarditisRenal: proteinuria, castsNeurological: psychosis, seizureHematological: decreased platelets, WBC or RBCImmunological: anti-DNA, anti-Sm, antiphospholipid antibodiesANA

Drug-induced SLEIt is different from idiopathic SLE by (1) less involvement of kidney and CNS and skin and (2) presence of anti-histone antibodies instead of ANA

Most commonly implicated drugs:ProcainamideHydralazineMinocyclineINHPenicillamineTNF- inhibitors

PathologyColloid bodies (damaged keratinocytes)Vacuolar changes in basal layerEpidermal atrophyThickenening of basement membranePeri-adnexal, upper and lower dermal lymphocytic infiltrateMucin depositionDIF (direct immunofluorescence) show granular deposit at DE junction (lupus band)a and around adnexa

Treatment

Topical: Sun protection, topical and intralesional steroidsSystemic: Antimalarial e.g. hydroxychloroquine, chloroquineOthers: retinoids, thalidomide, dapsone

Morphea

Affect female more than maleDoes not affect survival but can cause a disability especially the linear typeFibroblast isolated from morphea lesion produce increased amount of collagen and this is thought to be due to production of IL-4 and TGF-β by T-cellsSome believes that Borrelia plays a role

Types1 .Plaque-type : present as white indurated

plaque surrounded by lilac border2 .Deep morphea: invlove deep dermis, subcutis

+/- fascia3 .Generalized morphea: plaques coaleasce

affecting the entire trunk except nipple, can involves the extremities, it is disabiling causing difficulty in breathing, distinguished from systemic sclerosis by (1)absence of Raynauds phenomenon, (2)absence of internal organ involvement and (3)asymmetry of involvement

4 .Linear morphea: different from plaque morphea by (1) childhood onset, (2)high ANA titre and (3)disabling especially when involve joint or cause atrophy of the whole limbVariants:

En coup de sabre type (sword hit): linear morphea of head, can involve muscle, bone

Parry-Romberg syndrome: hemifacial atrophy including eyes and tongue(the most severe form)

DiagnosisAutoantibodies: ANA and anti-ssDNA are commonly seen in linear and generalized types

Pathology: hyalinized and eosinophilic collagen bundles with a little space in between and atrophy of hair follicles and sweat glands

Treatment

Topical: Corticosteroid is ineffectiveVit D analogues e.g. calcipotriol

Systemic treatment: Glucocorticoids, methotrexate ,PUVA (psoralen plus UVA) and UVA1

Others: penicillin, penicillamine, acitretin , calcitriol and IFN-γ

Systemic sclerosis(Scleroderma)Diffuse SS Limited SS

CREST syndrome (Calcinosis, Raynauds phenomenon,

Esophageal dysmotility, Sclerodactyly, Telengictasia)

Involve proximal extremities and trunk in addition to distal extremities and face

Involve distal extremities and face

Internal organ involvement is early and extensive

Internal organ involvement is late and limited

Worse prognosis Better prognosis

Presence of anti-Scl 70 antibodies Presence of anti-centromere antibodies

The sameThe most common cause of death is lung

involvement in both types

Possible internal organ involved: Lung(pulmonary hypertension, interstitial

lung dis.), kidney(hypertensive renal crisis), GIT(GERD, dyphagia, diarrhea,

constipation)

Dermatomyositis

Classification(1):Dermatomyositis ( skin plus muscle)Polymyositis (muscle only)Amyopathic dermatomysitis (skin only)Classification (2):

Juveile type: not associated with malignancy but associated with more calcinosis and vasculitisAdult type: associated with malignancy especially ovarian, lung and breast

Clinical featuresCutaneous:

Heliotrop rash(violaceous patch and edema around eyes)Gottron papules: flat-topped violaceous papules on knucklesGottron sign: violaceous discoloration of knuckles, elbows and kneePhotodistribution of skin manifestations(shawl)Nail fold telengictasia

Systemic: Proximal myopathy: inability to comb, to walk upstair or to stand from sitting positionLung: interstitial lung disease( restrictive lung disease)Heart: conduction defects, arrhythmiaCalcinosis cutis: deposition of calcium in skin, subcutis and muscle

Diagnosis

Diagnosis of muscle involvement(which requires systemic steroid ): history, physical exam, muscle enzymes e.g. aldolase and CK, EMG, muscle biopsy, imaging e.g. MRI and ultrasound

Autoantibodies: ANA, anti-Jo1, anti-Mi2 antibodies

Treatment of cutaneous lesions: the same as cutaneous LE

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