Classic Ehlers-Danlos syndrome
=Classic Ehlers-Danlos Syndrome =
Classic Ehlers-Danlos Syndrome (cEDS) is a rare genetic disorder that affects connective tissues, which provide support in skin, tendons, ligaments, blood vessels, internal organs, and bones. It is one of the several types of Ehlers-Danlos Syndrome (EDS), each with its own specific symptoms and genetic causes.
Signs and Symptoms[edit | edit source]
Individuals with Classic Ehlers-Danlos Syndrome typically exhibit the following symptoms:
- Skin Hyperextensibility: The skin can be stretched beyond normal limits and returns to its original shape when released.
- Joint Hypermobility: Joints are more flexible than usual, which can lead to frequent dislocations and chronic joint pain.
- Fragile Skin: The skin is prone to bruising and tearing easily, often resulting in atrophic scars.
- Molluscoid Pseudotumors: These are small, fleshy growths that can appear over pressure points such as elbows and knees.
- Subcutaneous Spheroids: Small, hard nodules under the skin, often calcified.
Genetic Cause[edit | edit source]
Classic Ehlers-Danlos Syndrome is primarily caused by mutations in the COL5A1 or COL5A2 genes, which are responsible for the production of type V collagen. This type of collagen is crucial for the structural integrity of connective tissues.
Diagnosis[edit | edit source]
Diagnosis of cEDS is based on clinical evaluation, family history, and genetic testing. The Beighton Score is often used to assess joint hypermobility. Genetic testing can confirm mutations in the COL5A1 or COL5A2 genes.
Management[edit | edit source]
There is no cure for Classic Ehlers-Danlos Syndrome, but management focuses on preventing complications and improving quality of life. This includes:
- Physical Therapy: To strengthen muscles and stabilize joints.
- Pain Management: Through medications and lifestyle modifications.
- Protective Measures: To prevent skin injuries and joint damage.
Prognosis[edit | edit source]
The prognosis for individuals with Classic Ehlers-Danlos Syndrome varies. While the condition is lifelong, many people can lead relatively normal lives with appropriate management. However, they may face challenges related to chronic pain and joint instability.
See Also[edit | edit source]
- Ehlers-Danlos Syndrome
- Connective Tissue Disorders
- Genetic Disorders
- "Ehlers-Danlos Syndrome, Classic Type." Genetics Home Reference. U.S. National Library of Medicine.
- "Ehlers-Danlos Syndrome." National Organization for Rare Disorders (NORD).
NIH genetic and rare disease info[edit source]
Classic Ehlers-Danlos syndrome is a rare disease.
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