collagen diseases in adolescents
DESCRIPTION
COLLAGEN DISEASES IN ADOLESCENTS. DR.CHANDRIKA RAO PROFESSOR AND HOD. M.S.RAMAIAH MEDICAL COLLEGE AND HOSPITAL BANGALORE. Definition. Collagen-Greek-`Glue producer` Collagen diseases-A small group of disorders due to structural or metabolic defects in collagen. CASE 6'4", - PowerPoint PPT PresentationTRANSCRIPT
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COLLAGEN DISEASES IN ADOLESCENTS
DR.CHANDRIKA RAOPROFESSOR AND HOD.M.S.RAMAIAH MEDICAL COLLEGE AND HOSPITALBANGALORE
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Definition
•Collagen-Greek-`Glue producer`
•Collagen diseases-A small group of
disorders due to structural or metabolic
defects in collagen.
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CASE
6'4",
Armspan of 6'7“. He has hypermobile joints in his knees, shoulders and ankles.
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CASE
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CASE
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Collagen-Structure
•Generic term for proteins forming a triple helix of three polypeptide chains .
•All members of the collagen family form these in the extracellular matrix .
•Size, function and tissue distribution vary considerably.
•N=28
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Type Collagen Distribution Disorders
I
Fibril-I,II,III,V,XI
Most abundant .Scar tissue,tendons, skin, artery walls, cornea, bones and teeth.
Osteogenesis imperfecta,
Ehlers–Danlos syndrome especially type IV,
Infantile cortical hyperostosis aka Caffey's disease
II Hyaline cartilage,. Vitreous humour . Collagenopathy, types II and XI
IIIGranulation tissue, Reticular fiber. artery walls, skin, intestines and the uterus
Ehlers–Danlos syndrome, Dupuytren's contracture
IV Basal lamina; eye lens, glomeruli Alport syndrome, Goodpasture's syndrome
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VIMost interstitial tissue, assoc. with type I
Ulrich myopathy, Bethlem myopathy, Atopic dermatitis
VIIForms anchoring fibrils in dermoepidermal junctions
Epidermolysis bullosa dystrophica
VIII Some endothelial cells Posterior polymorphous corneal dystrophy
IXFACIT collagen-(IX,XII,XIV,XV), cartilage, assoc. with type II and XI fibrils
EDM2 and EDM3
XHypertrophic and mineralizing
cartilageSchmid metaphyseal dysplasia
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Collagen vascular disorders
•Discoid lupus erythematosus•Systemic lupus erythematosus•Neonatal lupus erythematosus•Juvenile dermatomyositis•Childhood scleroderma
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Approach
•Detailed history•Progressive•Multiple areas involved•Skin,Musculo-skeletal involvement•Family history•Remmision and relapse
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Gene location mutation Syndrome
COL1A1 17q22 Null alleles OI type I
Partial deletions; C-terminal substitutions
OI type II
N-terminal substitutions OI types I, III or IV
Deletion of exon 6 EDS type VII
COL1A2 7q22.1 Splice mutations; exon deletions OI type I
C-terminal mutations OI type II, IV
N-terminal substitutions OI type III
Deletion of exon 6 EDS type VII
GENETICS
Different Types of Mutations in Collagen I Chain Genes Cause Different Disease Severities
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Family Tree
?
13 aortic aneurysm
44
69
28 aortic aneurysm, aneurysm of kidney
28 AA
28 AA
31 AA, cerebral hemorrhage
45 AAA
45 ?valve replacement
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Ehlers-Danlos syndrome
The signs and symptoms of Ehlers-Danlos syndrome vary from mildly loose joints to life-threatening complications•
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Diseases of Elastic Fiber• Cutis laxa• Williams syndrome• Buschke-Ollendorff syndrome • Menkes disease • Pseudoxanthoma elasticum, • Marfan's syndrome
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SLERevised Diagnostic Criteria
1. Malar rash2. Discoid rash3. Photosensitivity4. Oral ulcers5. Arthritis6. Serositis7. Renal disorder8. Haematologic disorder9. Neurologic disoder10.Immunologic disoder11.ANA 4/11 are present serially or simultaneously.
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Inclusion Criteria Exclusion Criteriaa Laboratory Criteriaa
Signs and symptoms suggestive of a CTD but not fulfilling the diagnostic or classification criteria for any of the defined CTDs b for at least 3 years c
Malar rashDiscoid LupusCutaneous sclerosisHeliotrope rashGottron papulesErosive arthritis
Anti-dsDNAAnti-SmithAnti-U1-RNPAnti-Scl70AnticentromereAnti-La/SSBAnti-Jo1Anti-Mi2
Presence of antinuclear antibodies determined on two different occasions
Preliminary Classification Criteria for Undifferentiated Connective-Tissue Disease
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Investigation •CBC,ESR,CRP X-ray•Urinalysis CT Scan•Serum creatinine Early renal
biopsy•Rheumatoid factor (RF)•ANA-IFA
•Other:•CK,C3, ,TSH,Anti-Ro/SSA,Anti-La/SSB•Anti-Smith,Anti-cardiolipins,•Lupus anticoagulant•Vitamin D - 25(OH)D3
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Treatment
•Early diagnosis.HEADDSS
•May still utilize tried & tested agents initially
•Phenytoin, Cyclosporine,Ca Channel blocker-
Nifedipine-stimulatory drugs.
•Newer immunosuppressive &
immunomodulatory-NASAIDS,Cox-2inhibitor,
Cyclosporine, Azathioprine, Ca channel blocker.
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CONCLUSION
• A multidisciplinary approach.
• The aim should be to reduce disease activity to a
minimum level and to allow treatment free
intervals, so that the growth, development, and
fertility of these children are ensured.
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•Thank you
•Q:Acquired collagen disorder?