Arthrochalasia 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 (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.

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).

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

Minor criteria:

• skin: tissue fragility with atrophic scars
• Hematoma tendency
• Skeletal system: Kyphoscoliosis, mild osteopenia
• Neuromuscular system: Muscular hypotonia

Major criterion: congenital bilateral hip joint luxation+

Major criterion Hyperelasticity of the skin

or

Major criterion severe generalized hypermobility of the joints with dislocations or subluxations

1. 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
2. Brady A et al (2017): Ehlers-Danlos Syndomes, rarer types. In: Ehlers-Danlos Society. American Journal of Medical Genetics 175C:70-115
3. 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
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7. 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
8. 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
9. 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
10. 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.