CTD

Connective tissue diseases

Dr. Ahmed Abdulhussein AL-Huchami

Connective Tissue diseases:

Are groups of clinico pathological conditions involve connective tissue of most systems of the body, include mainly LE, scleroderma, systemic sclerosis, dermatomyositis, MCTD &others…

Pathogenesis

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

Perpetuating factors:

Ultraviolet light
Sex hormones
Stress

SLE criteria(4 out of 11)

Malar(butterfly) rash
Discoid lesions
Photosensitivity
Oral ulcer
Arithritis
Serositis e.g. pleuritis, pericarditis
Renal: proteinuria, casts
Neurological: psychosis, seizure
Hematological: decreased platelets, WBC or RBC
Immunological: anti-DNA, anti-Sm, antiphospholipid antibodies
ANA


Drug-induced SLE
It is different from idiopathic SLE by (1) presence of anti-histone antibodies instead of ANA

Most commonly implicated drugs:

Procainamide
Hydralazine
Minocycline
INH
Penicillamine
TNF- inhibitors

Pathology

Colloid bodies (damaged keratinocytes)
Vacuolar changes in basal layer
Epidermal atrophy
Thickenening of basement membrane
Peri-adnexal, upper and lower dermal lymphocytic infiltrate
Mucin deposition
DIF (direct immunofluorescence) show granular deposit at DE junction (lupus band)a and around adnexa

Treatment

General: avoidance of sun and ppt factor
Specific :
Topical: Sun protection, topical and intralesional steroids
Systemic: Antimalarial e.g. hydroxychloroquine, chloroquine
Others: retinoids, thalidomide, dapsone

Morphea

Affect female more than male
Does not affect survival but can cause a disability especially the linear type
Fibroblast 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-cells
Some believes that Borrelia plays a role

Types

1. Plaque-type : present as white indurated plaque surrounded by lilac border
2. Deep morphea: invlove deep dermis, subcutis +/- fascia
3. Generalized morphea: plaques coaleasce affecting the entire trunk except nipple, can involves the extremities, it is disabiling causing difficulty in breathing,

4. Linear morphea: Mostly affect children

Variants:
En coup de sabre type linear morphea of head, can involve muscle, bone

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

Diagnosis

Autoantibodies: 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 :
Vit D analogues e.g. calcipotriol
Systemic treatment:
Glucocorticoids, methotrexate ,PUVA (psoralen plus UVA) and UVA1
Others: penicillin, penicillamine, acitretin , calcitriol and IFN-γ

Dermatomyositis

Classification (1):
Juveile type: not associated with malignancy but associated with more calcinosis and vasculitis
Adult type: associated with malignancy especially ovarian, lung and breast
• Classification (2):
• Polymyositis (muscle only)
• Amyopathicdermatomyositis( skin only)
• Dermatomysitis (skin and muscle)


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

Systemic :

Proximal myopathy: inability to comb, to walk upstair or to stand from sitting position
Lung: interstitial lung disease( restrictive lung disease)

Diagnosis

Diagnosis of muscle involvement : 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