Classic ehlers-danlos syndrome Q79.6

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of hereditary connective tissue diseases whose main clinical features are overstretchability of the skin and hyperreflexia of the joints. Depending on the type of disease and the underlying gene mutations, vessels, muscles, ligaments, tendons and internal organs are also affected.

So far, 19 gene mutations are known to trigger EDS. The various mutations lead to changes in the structure, production or processing of collagen or of proteins that interact with collagen. The frequency of occurrence in the population is assumed to be 1:5,000 to 1:10,000, making EDS a rare disease (orphan disease).

The genetic cause of classic Ehlers-Danlos syndrome is found in the COL5A1 and COL5A2 genes in about 90% of cases. Rarely, mutations are present in COL1A1.

Major criteria:

• Skin: extremely elastic skin, which is fragile and easily vulnerable
• Atrophic scarring
• General joint hypermobility.

Minor criteria:

Furthermore, 9 "minor" criteria were defined:

• Soft doughy (velvety) skin
• Tissue Survey
• Hematoma tendency
• Molluscoid pseudotumors
• Subcutaneous nodules (spheroids)
• joints; complications of hypermobility (sprains, dislocation, subluxation, per planus, pain

Other:

• hernias, epicanthus
• Positive family history
• Muscular hypotonia or pseudotumours

Major criteria: hyperelasticity of the skin + atrophic scars +

either

• Major criterion generalised hypermobility

or

• 3/>3 minor criteria

1. Brady A et al (2017): Ehlers-Danlos Syndomes, rarer types. In: Ehlers-Danlos Society. American Journal of Medical Genetics 175C:70-115
2. Brinckmann J (2018) Hereditary connective tissue diseases. In. Plewig et al. (Ed.) Braun-Falco`s Dermatology, Venerology and Allergology, Springer Reference Medizin S 883-890
3. Bowen et al.(2017): Ehlers-Danlos syndrome, classical type. American Journal of Medical Genetics 175C:17-39
4. Byers PH et al (2019): Diagnosis, natural history and management in vascular Ehlers-Danlos syndrome. American Journal of Medical Genetics 175C:40-47