Juvenile Scleroderma Flashcards
Phases of skin disease
- edema
- sclerosis (induration)
- atrophy
Criteria for systemic sclerosis
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
Class I HLA
HLA A9, B8, Bw35
Class II
DRB11104; DRB10501
Which gene is associated with microchimerism?
DQA1*0501
Anti-Topoisomerase I (Scl70)
28-34%
PVD, digital pitting, PIF, renal involvement
High mortality
Anti Centromere
Low in children 7%
Limited SSc associated with calcinosis and teleangiectasias
Risk for isolated pulmonary HTN and GI involvement
Anti PM SCL and U1RNP
Scleroderma in overlap syndromes in MSK
Anti RNA polymerase I and III
very rare
- Associated with renal involvement and renal crisis
Earliest PFT changes
Decrease in FVC
Most common findings on HRCT in children
Ground glass opacities
Subpleural micromodules
linear opacities
Honey combing
What medicine prevents DU
IV iloprost
Bosentan
Poor prognostic factors
- Negative anti centromere
- Positive anti topoisomerase (Scl 70)
- Postive RNA poly 3
- Male
- HTN
- CXR with pulmonary fibrosis
- Low BMI
Limited skin thickening (Limited SSc)
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)
PKU
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
Progeria
- 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
Werner Syndrome
Adolescents present with generalized atrophy of muscle and SC tissue, graying hair, baldness, scleroderma like skin changes and ulcers on upper extremities
Scleromyedema
Papular cutaneous lesions with induration of underlying subQ tissue
Associated with monoclonal gammopathies
Scleredema
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
Porphyria Cutanea Tarda
Blisters on sun exposed
some have features of CT diseases like lupus
Superficial circumscribed morphea
Oval or round circumscribed areas of induration, limited to epidermis and dermis, often with altered pigmentation and violeaceous, erythematous halo (lilac ring)
Deep circumscribed morphed
Oval or round circumscribed deep induration of the skin, involving subQ, extending to fascia and may involve underlying muscle
Localized morphea subtypes
Circumscribed
- Superficial
- Deep
Linear Scleroderma
- En coup
- Parry Romberg
Generalized
Pansclerotic
Mixed (combo of 2 or more)
Eosinophilic Fasciitis
Fascial involvement with eosinophilia, high inflammatory markers, hyper gamma
- Associated with Borellia burgdofi, I tryphotan, and intense exercise
Toxin that can aggravate eosinophilia myalgia and EF
I-Tryptophan
