Juvenile Scleroderma

Question 1

Phases of skin disease

Answer 1

1. edema
2. sclerosis (induration)
3. atrophy

Question 2

Criteria for systemic sclerosis

Answer 2

Need one major criteria –> Sclerosis or induration of the skin proximal to MCP
Need two minor criteria–>
- Skin–> sclerodactylyl
- Vascular–> RP, NFC, Digital tip ulcers
- GI–> Dysphagia, reflux
- Renal–> Renal Crisis, new onset HTN
- Cardiac–> Arythmias, Heart failure
- Pulm–> Pulm fibrosis, DLCO changes, PAH
- MSK–> Tendon friction rub, arthritis, myositis
- Neurological–> Neuropathy, Carpal tunnel syndrome
- Serology–> ANA, SSc selective antibodies
- Anti centromere, anti topoisomerase, fibrillian, PM-SCL, fibrillin, RNA poly I or III

Question 3

Class I HLA

Answer 3

HLA A9, B8, Bw35

Question 4

Class II

Answer 4

DRB11104; DRB10501

Question 5

Which gene is associated with microchimerism?

Answer 5

DQA1*0501

Question 6

Anti-Topoisomerase I (Scl70)

Answer 6

28-34%
PVD, digital pitting, PIF, renal involvement
High mortality

Question 7

Anti Centromere

Answer 7

Low in children 7%
Limited SSc associated with calcinosis and teleangiectasias
Risk for isolated pulmonary HTN and GI involvement

Question 8

Anti PM SCL and U1RNP

Answer 8

Scleroderma in overlap syndromes in MSK

Question 9

Anti RNA polymerase I and III

Answer 9

very rare

- Associated with renal involvement and renal crisis

Question 10

Earliest PFT changes

Answer 10

Decrease in FVC

Question 11

Most common findings on HRCT in children

Answer 11

Ground glass opacities
Subpleural micromodules
linear opacities
Honey combing

Question 12

What medicine prevents DU

Answer 12

IV iloprost

Bosentan

Question 13

Poor prognostic factors

Answer 13

• Negative anti centromere
• Positive anti topoisomerase (Scl 70)
• Postive RNA poly 3
• Male
• HTN
• CXR with pulmonary fibrosis
• Low BMI

Question 14

Limited skin thickening (Limited SSc)

Answer 14

Calcinosis severe, RP complicated by digital ulceration and gangrene , telangiectasis more widespread

• Restricted to distal area of the digits
• Severe systemic involvement spec pulmonary fibrosis and HTN occur (less renal)

Question 15

PKU

Answer 15

Pseudoscleroderma

• Minority of children develop sclerodermatous skin
• tends to appear within the first year of life, symmetrical, poly demarcated, looks like morphed
• Frequently on the lower extremities and trunk

Question 16

Progeria

Answer 16

• Premature aging
• Thickened bound down skin on abdomen, flanks, proximal thighs, upper buttocks in the first year
• Second year, skin becomes thinner, sub vascularizion, alopecia, nail dystrophy

Question 17

Werner Syndrome

Answer 17

Adolescents present with generalized atrophy of muscle and SC tissue, graying hair, baldness, scleroderma like skin changes and ulcers on upper extremities

Question 18

Scleromyedema

Answer 18

Papular cutaneous lesions with induration of underlying subQ tissue

Associated with monoclonal gammopathies

Question 19

Scleredema

Answer 19

Associated with group B strep
edematous induration on face, neck, shoulders, thorax and proximal extremities but NOT the hands
-resolves after 6-12 months
- NO RP

Question 20

Porphyria Cutanea Tarda

Answer 20

Blisters on sun exposed

some have features of CT diseases like lupus

Question 21

Superficial circumscribed morphea

Answer 21

Oval or round circumscribed areas of induration, limited to epidermis and dermis, often with altered pigmentation and violeaceous, erythematous halo (lilac ring)

Question 22

Deep circumscribed morphed

Answer 22

Oval or round circumscribed deep induration of the skin, involving subQ, extending to fascia and may involve underlying muscle

Question 23

Localized morphea subtypes

Answer 23

Circumscribed

• Superficial
• Deep

Linear Scleroderma

• En coup
• Parry Romberg

Generalized
Pansclerotic
Mixed (combo of 2 or more)

Question 24

Eosinophilic Fasciitis

Answer 24

Fascial involvement with eosinophilia, high inflammatory markers, hyper gamma
- Associated with Borellia burgdofi, I tryphotan, and intense exercise

Question 25

Toxin that can aggravate eosinophilia myalgia and EF

Answer 25

I-Tryptophan