Musculo-contractival 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 (Brinckmann J 2018).

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 musculo-contractival Ehlers-Danlos syndrome (mcEDS) is characterized by autosomal recessive inheritance. Mutations in the genes CHST14 and DSE are the cause of mcEDS. mcEDS-CHST-14 is caused by mutations in the CHST14 gene, a gene located on chromosome 15q15.1 and coding for dermatansulfotransferase-1 (see below dermatansulphate). The second gene which triggers this phenotype is DSE (6q22.1), a gene coding for dermatan sulfate pimerase-1. It is characterized by hyperextensibility of the skin, increased skin vulnerability, atrophic scarring and increased wrinkling in the palms of the hands. mcEDS leads to congenital contractures (Brady et al. 2017).

Major symptoms:

• Skin: hyperelasticity, hematoma tendency, skin fragility with atrophic scars, increased palmar wrinkling. Congenital: multiple contractures, craniofacial dysmorphia.

Minor symptoms:

• Skeletal: recurrent or chronic dislocations, thoracic deformities, (kypho) scoliosis, prominent finger shape, progressive foot deformities.
• Eyes: strabismus, defective vision, glaucoma

Other:

• Large subcutaneous hematomas, chronic constipation, colonic diverticulum, pneumothorax, nephrocystolithiasis, hydronephrosis, cryptorchimus

• Detection of the genetic defects;
• Major symptoms congenital multiple contractures and craniofacial dysmorphy +
• characteristic skin findings

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