Ehlers-Danlos and differential diagnosis [112 genes]

Ehler-Danlos syndrome is a heterogeneous group of diseases characterized by the fragility of connective tissue, resulting in widespread manifestations of the skin, ligaments, joints, vasculature, and/or internal organs. The clinical spectrum is highly variable, from mild skin and joint hypermobility to severe physical disability and life-threatening vascular complications.

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This service includes the genes of Ehler-Danlos syndrome and those of entities that can be confused during the differential diagnosis carried out by a dermatologist. Thus, the differential diagnosis is focused on diseases that must be considered during this process due to their superimposable or overlapping skin manifestations with those detected in one form or another of Ehler-Danlos syndrome.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention or palliation of associated comorbidities in patients with Ehler-Danlos syndrome.

Service indicated when there is a moderate or high clinical suspicion of the disease.