DefinitionThis section has been translated automatically.
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 (Brady A et al. 2017).
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 very rare arthrochalasia EDS (Arthrochalasia EDS) is an autosomal-dominantly inherited, rare disease variant of the Ehlers-Danlos syndrome.
EtiopathogenesisThis section has been translated automatically.
The genetic cause of "arthrochalasia EDS" is found in a pathological structure of collagen I (lack of cleavage of the propeptide of the alpha1 or alpha2 chain of collagen I) caused by mutations of the COL1A gene located on chromosome 7q21.3 (Ayoub S et al. 2020).
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Clinical featuresThis section has been translated automatically.
The clinical symptoms are divided into major and minor criteria (Brinckmann J 2018).
Major symptoms are:
- skin: hyperelasticity
- Skeletal system: congenital bilateral hip joint luxation, severe generalized hypermobility of the joints with dislocations or subluxations
- skin: tissue fragility with atrophic scars
- Hematoma tendency
- Skeletal system: Kyphoscoliosis, mild osteopenia
- Neuromuscular system: Muscular hypotonia
DiagnosisThis section has been translated automatically.
Major criterion: congenital bilateral hip joint luxation+
Major criterion Hyperelasticity of the skin
Major criterion severe generalized hypermobility of the joints with dislocations or subluxations
LiteratureThis section has been translated automatically.
- Ayoub S et al (2020) Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. At J Med Genet A doi: 10.1002/ajmg.a.61523. https://www.ncbi.nlm.nih.gov/pubmed/32091183
- Brady A et al (2017): Ehlers-Danlos Syndomes, rarer types. In: Ehlers-Danlos Society. American Journal of Medical Genetics 175C:70-115
- 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
- Bowen et al.(2017): Ehlers-Danlos syndrome, classical type. American Journal of Medical Genetics 175C:17-39
- Byers PH et al (2019): Diagnosis, natural history and management in vascular Ehlers-Danlos syndrome. American Journal of Medical Genetics 175C:40-47
- Chopra P et al(2017): Pain management in the Ehlers-Danlos syndromes. American J
- Guarnieri V et al (2019) Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. At J Med Genet A 179:846-851. https://www.ncbi.nlm.nih.gov/pubmed/30821104
- Malfait F et al (2006) Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.J Med Genet 43:e36. https://www.ncbi.nlm.nih.gov/pubmed/16816023
- Melis D et al (2012) Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? Ital J Pediatr 38:65. https://www.ncbi.nlm.nih.gov/pubmed/23158907
- Micale L et al (2019) Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.Genes (Basel) 10: doi: 10.3390/genes10120967.
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