Download Connective Tissue Diseases

Connective Tissue Diseases

Connective tissue diseases (CTDs) are defined as a
group of acquired diseases resulting from persistent
immune mediated inflammation.
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Generation of autoreactive T cells or autoantibodies.
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Autoantibodies/autoreactive T cells can attack any organ
of the body, resulting in a wide array of signs and
symptoms.
The classic autoimmune CTDs include:

Systemic lupus erythematosus (SLE),
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Juvenile dermatomyositis/polymyositis
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(JDM/PM), systemic sclerosis (SSc),
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Sjögren’s syndrome (SS),
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undifferentiated CTD (UTCD)
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overlap syndromes (mixed CTD (MCTD)
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The clinical presentation of CTD in childhood can range
from an acute severe illness mimicking a serious
infection, to an insidious onset of disease with gradual
accumulation of symptoms and signs over weeks to
months.

Should suspect CTD when a child has a multi system
disease with no apparent cause.
Other clinical features that suggest CTD include:
 prolonged fever,
 oral ulcers,
 Raynaud’s phenomenon,
 Skin rash (malar rash, Heliotrope rash, nodules), photosensitivity,
 alopecia,
 pleuropericarditis,
 glomerulonephritis,
 arthritis,
 unexplained abdominal pain,
 muscle weakness,
 sicca symptoms (dry eyes and dry mouth)
 Constitutional symptoms(fever, anorexia, muscle ache, fatigue and
weight loss)
Systemic Lupus Erythematosus
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
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Multisystemic autoimmune disease of
unknown etiology
In most basic terms lupus is an
autoimmune disease with autoantibodies
to self nuclear antigen in various tissue
leading to organ damage
More common in females
◦ Prepubertal 4:1
◦ Postpubertal 8-9:1
SLE Criteria  4/11
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4 Skin
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Malar Rash
Discoid Rash
Photosensitivity
Oral Ulcers
2 Immunologic

5 Organ Systems
◦ CNS
◦
◦
◦
◦ ANA
◦ dsDNA, anti-Smith,
◦
antiphospholipid antibodies
 Seizure
 Psychosis
Serositis
Kidney
 Proteinuria
Arthritis
 Non erosive
Hematologic
 Lymphopenia (<4,000)
 Lymphopenia (<1,500)
 AIHA
 Thrombocytopenia (<100,000)

In order to make the diagnosis, must
have 4 of the 11 criteria at one time or
over period of observation.
Clinical Features
Hematological system:
 Thrombocytopenia, Auto immune hemolytic anemia, Leucopenia,
lymphopenia;
Renal disease:
 Nephrotic syndrome, Acute nephritis, Hypertension;
Central nervous system involvement:
 Seizures, Psychosis, Stroke, Organic brain syndrome,Chorea
Lung disease:
 Pleural effusion or acute/chronic pneumonitis;
Cardiovascular system:
 Pericarditis, myocarditis, Libman Sacks endocarditis;
Mucocutaneous disease:
 Photosensitivity, malar rash, alopecia, oral and nasal
ulcers;
Gastro-intestinal involvement:
 GI vasculitis, sterile peritonitis;
Musculoskeletal:
 Arthritis, arthralgia, myalgia, inflammatory myositis.
Discoid Lupus
Well-circumscribed, red-purplish, elevated plaques
Malar Rash
Spares nasolabial folds
Oral Ulcers

Malar rash and ulcers on the lips in a child with SLE
Differantial Dx

The important differential diagnosis to be
considered are:
◦
◦
◦
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Infections (bacterial and viral),
Malignancy,
Vasculitis,
Chronic granulomatous diseases like sarcoid
and autoinflammatory syndrome.
Treatment

NSAIDS

Hydroxychloroquine (Plaquenil)
◦ Ototoxic, ocular side effects

Steroids
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Immunosuppressants
◦ Cyclophosphamide
◦ Azathioprine
◦ Cellcept
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Sunscreen
Neonatal Lupus
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Maternal Transfer of Antibodies
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Complications
◦ Anti-Ro (SS-A)
◦ Wane at 6 mo
◦ Even with asymptomatic mom’s
◦ Rash
◦ Heart block – usually 3rd degree
 50 % of babies born to moms with SLE
 Damage and scarring during 2nd trimester
 Not reversible
◦ Hepatitis
◦ Neutropenia/thrombocytopenia
◦ Hydrops fetalis
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Treatment
◦ Supportive
◦ May need cardiac pacing
Neonatal Lupus
Raccoon Eyes
Annular plaques
Annular Scaling
Congenital Heart Block
Drug Induced Lupus
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D-SLE
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◦
◦
◦
D = Drugs for the Heart (procainimide)
S = Sulfonamides
L = Lithium
E = Epilepsy medications (anticonvulsants)
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Others
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Most often reversible
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ANA
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Anti-histone Ab
◦ INH
◦ Minocycline
Juvenile Dermatomyositis (JDM)
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Myopathy and Vasculopathy
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MyopathySymmetrical proximal muscle
weakness
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Vasculopathy  Skin Manifestations
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
The age of onset has two peaks, between 5 and 9 yrs
and between 11 and 14 yrs, with a predominance of
females
Heliotrope rash on the eyelids, Gottrons papules on the
knuckles and proximal muscle weakness are the classical
features of JDM.
Clinical Manifestations

Insidious in onset
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Constitutional Symptoms
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Fatigue
Fever
Weight loss
Muscle weakness
Physical Findings
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Heliotrope Rash
Photosensitive rash – upper torso, extensor surfaces of arms/legs
Nail fold telangiectasias
Gottron papules
Gower’s sign
Dysphagia/dysphonia/dyspnea
Nodular calcifications
Heliotrope Rash
Violaceous
hue
Periorbital
edema
Malar rash
Gottron’s Sign
Pathognomonic for JDM
Red,thickened, scaly skin
overlying PIPs
Calcinosis
Striae
Photosensitive Rash
Nail fold dilation and loops
JDM: Work Up & Treatment
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Labs
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Increased CK, Aldolase, LDH, AST, ALT
Increased vWF Antigen
Usually nl ESR/CRP
+ ANA at times
Radiology
◦ MRI
EMG
 Treatment
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Sunscreen
Steroids
Methotrexate
IVIG
Complications
◦ At high risk of gastric perforation
Scleroderma
The most characteristic feature of scleroderma is
thickening of the skin due to increased collagen
deposition.
Two main categories:
Localized scleroderma (morphea): there is skin
sclerosis but usually no vascular or internal organ
involvement,
juvenile systemic sclerosis: there is diffuse skin
sclerosis along with internal organ involvement.

Linear scleroderma

a form commonly
seen in children
where there is a
longitudinal band
of skin thickness
leading to
contractures.
Morphea
Flesh colored, erythematous or purplish
patches
Firm Hyperpigmented
plaque
Ivory plaque
Juvenile Systemic Sclerosis
extremely rare in children
 Typically starts with Raynaud’s phenomenon
 Skin involvement presents as skin thickening, hidebound
skin, hyperpigmentation, contractures due to skin
thickening. Later, the skin shows thinning of the skin and
hypopigmentation.
 The other symptoms include, heartburn, malabsorption,
pulmonary fibrosis, pulmonary arterial hypertension and
arthritis

Raynaud’s Phenomenon
Sharp demarcation
CREST
Sclerodactyly
Telangiectasia
Calcinosis
Raynaud
Sjogren’s Syndrome
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probably the rarest
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symptoms include dry mouth (difficulty in eating dry
food and speech) and dry eyes besides systemic features

presence of autoantibodies (ANA, anti-SSA or anti-SSB
antibodies)

lymphocytic sialedinitis on minor salivary gland biopsy.
Mixed Connective Tissue Disease
(MCTD)

MCTD is a syndrome where clinical features of
multiple CTDs are present along with presence
of high titre anti-RNP antibodies.

Raynaud’s phenomenon is present in nearly 95%
of patients.
Antibodies to extractable nuclear antigens in different connective tissue diseases