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What is EDH?
A group of more than 10 different inherited disorders that involve the genetic defect in collagen, connective tissue ynthesis and structure. Primarily affecting the skin, joints and blood vessel walls.
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Incidence of EDH?
- Equally affect all races.
- Equally affect both sexes.
- Generally diagnosed in early childhood.
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Cuase of EDH?
Caused by a variety of genetic mutations. Genetic mutations alter normal enzyme activity, leaving the connective tissue weak and unstable. It is autosomal dominant inherited.
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EDH chance of inheritance?
Children have a 50% chance of inheritance.
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signs and symptoms of EDH?
stretchy skin and hypomobile joints, severe bruising.
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EDH classical type incidence?
affects 1 in 10,000 to 20,000 people
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EDH classical type s/s?
- loose joints
- highly elastic, velvety skin
- fragile skin that bruises and tears easily
- slow and poor wound healing, with wide scarring
- noncancerious fibrous growths on pressure areas
- muscle fatigue and joint pain
- heart valve problems
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Hypermobility type of EDH s/s?
- Loose, unstable joints with many dislocations
- easy bruising
- muscle fatigue and pain
- chronic degenerative joint disease
- advanced premature osteoarthritis with chronic pain
- heart valve problems
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Hypermobility type of EDH incidence?
affects about 1 in 10,000 to 15,000 people
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Vascular type of EDH incidence?
- affects about 1 in 100,000 to 200,000
- MOST SERIOUS
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Why do we usually see EDH patients?
decrease joint pain
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Vascular type of EDH?
- fragile blood vessels and organs that are prone to tearing
- thin, translucent skin that bruises easily
- facial appearance (protruding eyes, thin nose and lips, sunken cheeks and small chin)
- collapsed lung
- heart valve problems
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What are the remainins 4 types of EDH?
- Kyphoscoliosis, arthrochalasis, dermatosparaxis, and other.
- make up a very small % of EDS and are considered rare.
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How is EDH diagnosed?
- Genetic testing: preimplantation, prenatal, postnatal DNA test
- skin biopsy
- echocardiogram
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Medical manifestations of EDH?
No cure, prominent scarring, difficulty with surgical wounds (stitches may tear out), chronic joint pain, joint dislocation, early onset arthritis, premature aging with sun exposure
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Medical management of EDH?
- Medication for joint pain (nonsteroidal anti-inflammatory, topical anesthetics)
- Supplements: vit V
- Medical management is typically viewed by patients as unsatisfactory.
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Clinical presentation of EDH?
- Normal cognition
- skin is soft, velvety, fragile and doughy feel
- joint hypermobility
- joint dislocation and/or subluxation
- joint and musculoskeletal pain
- scoliosis
- poor muscle tone
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PT management?
- Strength training to help stabilize joints to reduce muscle fatigue and joint damage
- orthotics for joint support
- parent education: avoid contact sports and weightlifting, protective gear, reduce clutter, assistive devices, mild soaps and sunscreens
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Coping strategies for children?
Maintain normalcy, be open and tell appropriate people about diagnosis for accommodations, promote activity (swimming), find a routine (home and school)
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Prognosis and outcomes of EDH?
Type IV will have a shorten life span, cause of death is typically (arterial aneurysma, valvular prolapse, spontaneous pneumothorax, vascular perforation) The other types generally have a typical life and lifespan.
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