Ehlers-Danlos syndrome: Difference between revisions
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==Background== | ==Background== | ||
* Hereditary [[connective tissue disorder]] | *Hereditary [[connective tissue disorder]] | ||
* Six types: Classic, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis | *Six types: Classic, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis | ||
*Causes increased risk of: | |||
**[[Thoracic Aortic Aneurysm|Thoracic]] and [[abdominal aortic aneurysm]] | |||
**[[Mitral valve prolapse]] | |||
**Spontaneous [[pneumothorax]] | |||
**Myopia and [[retinal detachment]] | |||
**Premature degenerative [[arthritis]] | |||
==Clinical Features== | ==Clinical Features== | ||
[[File:Hyperelastic skin in a case of Ehlers-Danlos syndrome (cropped).png|thumb|Individual with EDS displaying skin hyperelasticity.]] | |||
* | [[File:Ehlers-Danlos thumb.jpg|thumb|Individual with EDS displaying hypermobile thumb.]] | ||
* | *Type I and II: Classical | ||
**Hyperextension of the joints and skin | |||
* | **Easy bruising and skin fragility | ||
* | **Congenital dislocations of the hips, recurrent dislocations of other joints | ||
* | **Spondolithesis | ||
* | **Joint effusions | ||
**Club foot | |||
*Type III: Hypermobility | |||
**Similar to Classic, however less skin involvement | |||
*Type IV: Vascular | |||
**Colonic perforation | |||
**Ruptured arteries | |||
**Uterine rupture during pregnancy | |||
**Severe and frequent wound dehiscence after surgery | |||
**Only type that significantly affects mortality | |||
*Type VI: Kyphoscoliotic | |||
**Fragility of the ocular globe | |||
**Marked joint hyperextension | |||
**Severe scoliosis | |||
*Type VIIA and VIIB: Arthrochalasia | |||
**Profound joint hyperextension | |||
**Moderate short stature | |||
*Type VIIC: Dermatosparaxis | |||
**Minimal joint involvement | |||
**Primarily affects the skin and fascia | |||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
*[[Marfan syndrome]] | *[[Marfan syndrome]] | ||
* Cutis laxa | *Cutis laxa | ||
*Loeys-Dietz syndrome | *Loeys-Dietz syndrome | ||
*Osteogenesis imperfecta | *Osteogenesis imperfecta | ||
| Line 20: | Line 46: | ||
*Stickler syndrome | *Stickler syndrome | ||
*Arteria tortuosity syndrome | *Arteria tortuosity syndrome | ||
==Evaluation== | ==Evaluation== | ||
==Management== | ==Management== | ||
*Cardiac evaluation to screen for valvular disease, vascular disease, and aortic aneurysm | *Cardiac evaluation to screen for valvular disease, vascular disease, and aortic aneurysm | ||
*Ophthalmologic evaluation to screen for myopia, retinal detachment, and glaucoma | *Ophthalmologic evaluation to screen for myopia, retinal detachment, and glaucoma | ||
* Monitoring of skin fragility, wound healing, easy bruising | *Monitoring of skin fragility, wound healing, easy bruising | ||
==Disposition== | |||
==See Also== | ==See Also== | ||
*[[Connective tissue disease]] | |||
==External Links== | ==External Links== | ||
==References== | ==References== | ||
Latest revision as of 21:57, 10 September 2020
Background
- Hereditary connective tissue disorder
- Six types: Classic, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis
- Causes increased risk of:
- Thoracic and abdominal aortic aneurysm
- Mitral valve prolapse
- Spontaneous pneumothorax
- Myopia and retinal detachment
- Premature degenerative arthritis
Clinical Features
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- Type I and II: Classical
- Hyperextension of the joints and skin
- Easy bruising and skin fragility
- Congenital dislocations of the hips, recurrent dislocations of other joints
- Spondolithesis
- Joint effusions
- Club foot
- Type III: Hypermobility
- Similar to Classic, however less skin involvement
- Type IV: Vascular
- Colonic perforation
- Ruptured arteries
- Uterine rupture during pregnancy
- Severe and frequent wound dehiscence after surgery
- Only type that significantly affects mortality
- Type VI: Kyphoscoliotic
- Fragility of the ocular globe
- Marked joint hyperextension
- Severe scoliosis
- Type VIIA and VIIB: Arthrochalasia
- Profound joint hyperextension
- Moderate short stature
- Type VIIC: Dermatosparaxis
- Minimal joint involvement
- Primarily affects the skin and fascia
Differential Diagnosis
- Marfan syndrome
- Cutis laxa
- Loeys-Dietz syndrome
- Osteogenesis imperfecta
- Larsen Syndrome
- Stickler syndrome
- Arteria tortuosity syndrome
Evaluation
Management
- Cardiac evaluation to screen for valvular disease, vascular disease, and aortic aneurysm
- Ophthalmologic evaluation to screen for myopia, retinal detachment, and glaucoma
- Monitoring of skin fragility, wound healing, easy bruising