This document discusses the case of a 7-year-old girl presenting with progressive muscle weakness for 3 months. On examination, she has characteristic rashes including a violaceous rash on the eyelids, Gottron papules over the joints, and an erythematous rash on the chest. The most likely diagnosis is juvenile dermatomyositis. Diagnostic criteria include characteristic rashes and muscle inflammation. Treatment involves corticosteroids, methotrexate, and other immunosuppressants to control symptoms and prevent complications like aspiration pneumonia. The natural course varies, but about 1/3 of patients improve spontaneously, 1/3 have a chronic lingering course, and 1/3 may die from the

1. Slide session
By Dr Ola Alkhars
General pediatric consultant
29/6/2020

2. Thisisan11yrsold female
presentedwith multiple painful
jointswithswellingaswell asskin
rashasyouseeinthepicture
lastyearwastreatedforITP
1-Describe your fingigns
1-Describe your findigns

3. 1-Describeyour
findigns
DESCOID RASH
SEVERE VASCULITIS OF THE FINGER TIP WITH
SCARING

4. 2-what is the
most likely
diagnosis?
▪ 3-what Is the diagnostic criteria?
▪ 4-what are the main lines of treatment?

8. 2-Juvenile
systemic lupus
erythromatosis
▪ 3-ANAs (95%)
ds DNA are found in >60%; more specific
anti-Sm antibodies, present in 20%, are very
specific
anticardiolipin (antiphospholipid) antibodies
> 25% and are associated with risk of
thrombosis.

9. Management
▪ Mild disease: hydroxychloroquine, low-dose
steroids and NSAID.
▪ Moderate disease: oral corticosteroids and
immunosuppresive treatment such as azathioprine,
methotrexate or mycophenolate mofetil.
▪ Severe disease (includes renal and CNS ) requires
high-dose corticosteroids with mycophenolate
mofetil, rituximab (an anti-CD20 monoclonal
antibody) or cyclophosphamid.
▪ Antiplatelet treatment with aspirin is required for
antiphospholipid antibody positive patients.
Thrombosis: need warfarin, cover initial
warfarinisation with heparin until therapeutic INR is
achieved to prevent ‘paradoxical’ thrombosis.

10. 2yrsoldgirlepresentedwith
7wkshxofRT knee andLt
anklepainand swelling,
mothernotice earlymorning
stiffnesimprovedwhenshe
sittingfor awhile

11. 1-Whatisthemostlikely diagnosis
2-whatimportantinvestigations
youneed todo?
3-whatarethemainlines of
treatment?

12. OLIGOARTICULAR
ARTHRITIS
▪ Is the most common type of JIA (60% of cases),
occurring in 1 in 15,000 children.
▪ It is commonest in young females,with onset typically
between 1 and 5 years of age
▪ peak age of onset at 3 years.

13. DIAGNOSIS
▪ <،=4 joints are involved.
▪ ANA positive (>75%).
▪ Significant risk of anterior uveitis (~ 25%)
⚬ clinically silent, diagnosed on slit-lamp examination.
⚬ usually occurs in the first 5 years after onset of arthritis.
⚬ slit-lamp examinations are recommended every 3 m.
⚬ untreated uveitis can lead to visual impairment or
blindness.
▪ Arthritis is usually asymmetric,involving large joints and
the lower limbs (knees and ankles).
▪ Extends to multiple joints in up to 25% of cases (after the
first 6 months);in this case,called extended oligoarticular
JIA, the course is identical to polyarticular JIA.

14. TREATMENT
● ● NSAIDs.
● ● Intermittent intra-articular corticosteroid injections.
● ● Uveitis: topical steroids and mydriatics.
● ● Methotrexate is used if eye or joint disease remains
active.

15. PROGNOSIS
▪ Significant bony overgrowth may occur in affected
joints, which leads to leg-length discrepancies and
angular deformity
▪ The extended form affects 10–20%, with greater risk
for joint destruction and loss of function.75% or more of
patients tend to go into remission in late childhood,but
the disease can persist or recur in adult years.

16. ▪ This is a 7 yrs old girle has these physical findings,
presented with progressive muscle weakness for 3
months duration, started on Rx few days back

17. 1-Describethe
physical findigns

18. ▪A characteristic, violaceous
rash is present over the
eyelids with periorbital
edema

19. Gottron papules are present over
the metacarpophalangeal joints and
proximal interphalangeal joints

20. An erythematous "V-neck"
rash is present on the upper
chest

21. An erythematous, violaceous,
scaly rash is present over
extensor surfaces

22. 2-whatisthemostlikely
diagnosis?
3-what are the
diagnostic criteria?

23. Juvenile
dermatomyositis

24. What isyour
deferential
diagnosis?
DD OF SOLELY WEAKNESS WITHOUT RASH
▪ Polymyositis
▪ Infection-related myositis (influenza A and B,coxsackievirus B)
▪ Muscular dystrophies (e.g.,Duchenne,Becker),
▪ Myasthenia gravis, Guillain-Barré syndrome
▪ Endocrinopathies (hyperthyroidism, hypothyroidism, Cushing
syndrome, Addison disease,parathyroid disorders)
▪ Mitochondrial myopathies, TNF receptor associated periodic
syndrome (TRAPS)
▪ Metabolic disorders (glycogen and lipid storage diseases).
Infections
▪ Blunt trauma and crush injuries may lead to transient
rhabdomyolysis with myoglobinuria.
▪ vaccinations,drugs,GH and GVHD

25. DD
DD OF RASH
▪ Eczema,dyshidrosis,psoriasis,erythema nodosa,malar
rash from SLE,capillary telangiectasias from Raynaud
phenomenon,and other rheumatic diseases
DD OF MUSCLE INFLAMMATION
▪ SLE, juvenile idiopathic JIA, mixed connective tissue
disease
▪ IBD
▪ Antineutrophil cytoplasmic antibody–positive
vasculitides.

26. Other
Investigations
LAB
CBC: anemia of chronic disease
ESR: usually Nl
ANA:+ve in >80%
RF: typically - ve
Myositis Specific Antibodies (MSA): anti–Jo-1, anti–Mi-2, anti-
p155/140, anti-NXP2M
Myositis Associated Antibodies (MAA): SSA, SSB, Sm,
ribonucleoprotein (RNP), and double-stranded (ds) DNA
RADIOLOGY
▪ MRIis a sensitive indicator of myositis.
Identifies active sites of disease,reducing sampling error
and increasing the sensitivity of muscle biopsy and EMG,
results of which are nondiagnostic in 20% of cases if the
procedures are not directed by MRI.

27. Other
Investigations
CONTRAST SWALLOW STUDY
▪ may document palatal dysfunction and risk of
aspiration.
PULMONARY FUNCTION TESTING
▪ Detects a restrictive defect consistent with respiratory
weakness and reduced diffusion capacity of carbon
monoxide from alveolar fibrosis associated with other
connective tissue diseases

28. TREATMENT
▪ Corticosteroids have altered the course of disease,
lowering morbidity and mortality.
▪ Methotrexate decreases the length of treatment with
corticosteroids,thereby reducing morbidity from
steroid toxicity
▪ Folic acid is typically given with methotrexate starting
to reduce toxicity and side effects of folate inhibition
(oral ulcers,nausea,anemia)
▪ Intravenous (IV) gamma globulin is frequently used
as an adjunct for treatment of severe disease and can
be given at 2 g/kg every 2 wk for 3 doses, then every 4
wk as needed.
▪ Hydroxychloroquine has little toxicity risk and is used
as a secondary disease-modifying agent to reduce rash
and maintain remission.

29. TREATMENT
▪ Other medications for severe unresponsive disease
mycophenolate mofetil,cyclosporine,and
cyclophosphamide.
▪ Physical therapy and occupational therapy are
integral parts of the treatment program
▪ Bed rest is not indicated, because weight bearing
improves bone density and prevents contractures.

30. TREATMENT
▪ Social work and psychology services may facilitate
adjustment to the frustration of physical impairment in a
previously active child and aid with sleep disturbances
associated with rheumatic disease.
▪ Avoid sun exposure and apply high-SPF (sun protection
factor) sunscreen daily,even in winter and on cloudy
days.
▪ Vitamin D and calcium supplements are indicated for
all children undergoing long-term corticosteroid
therapy to reduce drug-induced osteopenia and
osteoporosis.

31. What isthe
natural course
of thedisease?
13 of patients spontaneously
improved,1/3 had a chronic,
lingering course,and 1/3 died
from the disease

32. Complications
RELATED TO PROLONGED AND SEVERE
WEAKNESS
▪ Aspiration pneumonia
▪ Respiratory failure
SECONDARY COMPLICATIONS FROM MEDICAL
TREATMENTS
▪ Steroid cessation of linear growth,weight gain,hirsutism,adrenal
suppression,immunosuppression,striae,cushingoid fat deposition,
mood changes,osteoporosis,cataracts,avascular necrosis,and steroid
myopathy.
▪ Methotrexate include immunosuppression,blood count dyscrasias,
chemical hepatitis,pulmonarytoxicity,nausea/vomiting,and
teratogenicity.
▪ Hydroxychloroquine.Retinal toxicity Hemolysis in patients with
glucose-6-phosphate deficiency, GI intolerance,and skin/hair
discoloration.

33. Complications
LIPODYSTROPHY AND CALCINOSIS
▪ Are thought to be associated with long-standing or
undertreated disease
▪ 10–40% of patients with JDM
▪ can be difficult to recognize.
▪ Lipodystrophy results in progressive loss of
subcutaneous and visceral fat,typically over the face
and upper body,and may be associated with a
metabolic syndrome similar to polycystic ovarian
syndrome with insulin resistance,hirsutism,acanthosis,
hypertriglyceridemia,and abnormal glucose tolerance.
▪ Lipodystrophy may be generalized or localized.
▪ Pathologic calcifications may be related to severity of
disease
▪ prolonged delay to treatment
▪ potentially to genetic polymorphisms of TNF-α-308.

34. Thankyou