Autoimmune Connective Tissue Diseases

Introduction Lesions occur as well defined

The connective tissue diseases have erythematous patches, varying in size from
been classified as such on the basis that a few millimeters to 10-15cm. There is
there are certain immunological and adherent scale and when this is removed
clinical features common to all of them: its undersurface shows horny plugs which
o The existence of autoimmunity. have occupied dilated pilosebaceous
o Vascular abnormalities. canals. The surface may present a dirty
In these disorders the connective tissue is brownish yellow appearance that is rough
the main tissue involved. to touch, because of the follicular
The older term collagen diseases is plugging.
incorrect because there is no evidence that Alopecia occurs in scalp lesions in
collagen is primarily at fault. approximately one-third of patients and is
CTDs include: usually permanent.
 Lupus Erythematosus (LE)
 Systemic Sclerosois (SS)
 Dermatomyositis (DM)
 Rhomatoid Arthritis (RA)
Lupus erythematosus
Aetiology:
Autoimmune disease. Genetic,
environmental, drugs and hormonal factors
may play a role.
Types:
 Discoid Lupus Erythomatosus (DLE) Well-demarcated, erythematous, hyperkeratotic plaques
with atrophy, follicular plugging, and adherent scale on
 Systemic Lupus Erythomatosus (SLE) both cheeks. This is the classic presentation of chronic
discoid LE.
Epidemiology:
DLE and SLE occur in young adults,
females: males is 2:1 in DLE and 8:1 in
SLE.
Discoid lupus erythematosus
Definition
DLE is a benign disorder of the skin,
affects mainly the sun exposed areas of
the body and characterized by well-
defined red scaly patches of variable size,
which heal with atrophy, scarring and
pigmentary changes.
Clinical features
The lesions occurs particularly on the
cheeks, nose ears, side of the neck and There are multiple scarred plaques that have a depressed
scalp. Lesions may be bilateral or center and an active, still erythematous and scaly margin
in the face of this 60-year-old female farmer. Scarring
unilateral. has led to considerable disfigurement.

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Course & prognosis:
Lesions heal centerally with atrophy,
scarring and hypo and hyperpigmentation.
The risk of developing SLE is only 6.5%.
Treatment
 Avoidance of sunlight and the use of
sunscreen.
 Topical corticosteroid therapy.
 Oral antimalarial drugs. e.g.
Hydroxychloroquine (with ophthalmic
monitoring during therapy & stop
smoking)
Systemic lupus erythematosus
Definition Acute SLE : Red-to-violaceous, well-demarcated papules and plaques on
the dorsa of the fingers and hands, characteristically sparing the skin
A systemic disease characterized by overlying the joints. This is an important differential diagnostic sign
when considering dermatomyositis, which characterristically involves the
multisystem organ inflammation, most skin over the joints.
commonly the skin, joints and vasculature
and associated immunological
abnormalities.
Clinical features
The main clinical features include fever,
rashes and arthritis, but renal, pulmonary,
cardiac and neurological involvement may
occur, with increased mortality. For any
individual patient, the American Rheumatism
association (ARA) criteria may be used as an
aid to diagnosis.
The hair is usually coarse, dry and fragile.
This leads to an unruly appearance with short,
broken-off hair, the so-called ‘lupus hair’.

Acute SLE: Palmar erythema mainly on the fingertips. This is

pathognomonic.

Prognosis
The course of SLE is very variable.
Acute fulminating cases are much less
common than subacute cases which can
survive for many years.
Treatment
 The aim is to try to maintain optimal
function with the minimum of therapy.
Acute systemic lupus erythematosus Bright red, sharply defined
erythema with slight edema and minimal scaling in a “butterfly pattern”
 Specific therapy for SLE: oral
on the face. This is the typical “malar rash.” Note also that the patient is corticosteroids and immunosuppressives.
female and young.
 Cutaneous lesions: Sunscreen avoidance
and sun screens, topical corticosteroids or
immune modulators and antimalarials.

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Scleroderma
Scleroderma is characterized by the
occurrence of skin sclerosis, the prominent
feature. Scleroderma may be cutaneous;
localized (morphoea) or systemic (systemic
sclerosis).
Localized scleroderma (Morphoea)
Clinical features
It occurs as indurated plaques, purplish
in colour, which after weeks or months
become ivory in colour in the centre, with a
lilac-colored edge. The surface is smooth
and shiny, with absent hairs and sweating,
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and may be hypoesthesia. The plaque is
attached to the deeper tissues.
The plaque is round, oral or irregular,
and is 2-15cm or more in diameter. Plaques
are usually multiple and often bilateral.
Usually occur in the trunk, limbs, face and
genitalia.
Prognosis
Plaque lesions improve with time, the
induration lessens, with residual pigmentation
persisting for a long time.
Treatment
 Topical treatment: with topical or
intralesional steroids, or calcipotriol.
 Systemic treatment: include systemic
steroids, penicillamine, low-dose
methotrexate, antimalarials, photo-
chemotherapy ad cyclosporine.
 Physiotherapy may be needed for joint
deformities and contractures.

Systemic sclerosis: Typical “rat bite” necroses and ulcerations of

fingertips.

Changes in the face lead to a

Morphea: This is an indurated ivory-colored, shiny plaque with a lilac-
colored, ill-defined border (arrows). Most lesions are better felt than
seen because they are indurated.
characteristic facial appearance. The forehead
is smooth and shiny, the skin is bound down
and hard, the lines of expression are smoothed
out and the nose becomes small and pinched.
The mouth opening is constricted and radial
furrows appear. The lower lids cannot be
depressed by the fingers to show the
conjunctiva.

Systemic sclerosis
Definition
Systemic sclerosis is a multisystem disease
affecting the skin and internal organs
characterized by the association of vascular
abnormalities, connective tissue sclerosis and
atrophy, and autoantibodies..
Clinical features
The hands and feet are the most
frequently involved. The earliest clinical
feature is usually Raynaud’s phenomenon. Systemic sclerosis: Thinning of lips—microstomia (which would show
The fingers appear smooth shiny tapered better when patient attempts to open her mouth), radial perioral
furrowing. Beaklike sharp nose.
with curved nails. Small painful ulcers on
pulps of the fingers which heal leaving pitted
scars. Sclerosis may extends to involve the
whole hand which is held in semi-flexion.

Systemic sclerosis: Left: Hands and fingers are edematous (nonpitting);

skin is without skin folds and bound down. Distal fingers are tapered
(madonna fingers). Right: Fingers show both bluish erythema and
vasoconstriction (blue and white): Raynaud phenomenon. Fingers are
edematous, the skin is bound down. Distal phalanges (index and third
finger) are shortened, which is associated with bony resorption.

Systemic sclerosis: Masklike facies with stretched, shiny skin and loss of
normal facial lines giving a younger appearance than actual age; the hair
is dyed. Thinning of the lips and perioral sclerosis result in a small
mouth. Sclerosis (whitish, glistening areas).

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Lesions of internal organs:
The commonest bone change is absorption of
the terminal phalanges. Lung involvement
commonly occurs as diffuse pulmonary
fibrosis or pulmonary hypertension.
Involvement of the oesophagus is the
commonest GIT affection and occurs in 75%
of patient. In addition to cardiac changes and
renal involvement.
Treatment Dermatomyositis Heliotrope (reddish purple) erythema of upper eyelids
and edema of the lower lids. This 55-year-old female had experienced
No effective curative remedy is known. severe muscle weakness of the shoulder girdle and presented with a lump
Improvement may occur with ciclosporin, in the breast that proved to be carcinoma.

PUVA and low-dose methotrexate.

Raynaud phenomenon (RP) is digital ischemia Pathognomonic signs:
that occurs on exposure to cold and/or as a  Gottron’s papules:
result of emotional stress. Violaceous flat papules occurring over the
It occurs in an episodic attacks: there is knuckles and the dorsa of finger joints.
blanching or cyanosis of the fingers or toes,  Gottron’s sign:
extending from the tip to various levels of the Macular violaceous erythema with or
digits. The finger distal to the line of ischemia without edema occurring over the
is white or blue and cold; the proximal skin is knuckles and the dorsa of finger joints.
pink and warm. When the digits are
rewarmed, the blanching may be replaced by
cyanosis because of slow blood flow; at the
end of the attack, the normal color or a red
color reflects the reactive hyperemic phase. To
recapitulate, the sequence of color changes is
white → blue → red.

Dermatomyositis
Definition
A rare disease affecting the skin, muscle
and blood vessels characterized by
erythematous and oedematous changes in the
skin and muscle inflammation and weakness.
Adult females are more affected than
males (2:1) and girls more than boys (5:1).
Clinical features
Patients usually have muscle and skin
involvement features (called
dermatomyositis). Some patients may have
muscle involvement only (called
polymyositis), or skin involvement only
(called amyopathic dermatomyositis).
In dermatomyositis, skin features may
preceed or follow the muscle features.
The rash consists of violaceous macular
erythema distributed symmetrically the
characteristic heliotrope erythema which is
violaceous erythema with slight edema
affectiong the face, especially the periorbital
areas, upper chest and arms.
Dermatomyositis: Violaceous erythema and Gottron papules on the dorsa
of the hands and fingers, especially over the metacarpophalangeal and
interphalangeal joints.
Typical histories include difficulty in
going up stairs or rising from a chair or
difficulty in raising the arms high enough to
comb the hair. There may be malaise and
fever. In addition to the weakness of the limb
muscles, which is mainly proximal, there may
be difficulty with speech and swallowing
(because of involvement of the muscles of the
tongue, pharynx and oesophagus).
Prognosis
Patients without muscle involvement
have a better prognosis. Mortality is 25% in
adults and children.
Treatment
Rest is essential in the acute phase. In
adults it is important to exclude an underlying
carcinoma. Treatment is with systemic
steroids.

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