Ehlers-Danlos syndrome, classic type

Ehlers-Danlos syndrome, classic type is a connective tissue condition characterized by highly elastic and fragile skin accompanied by widened, atrophic scars and joint hypermobility. Changes in the connective tissue are linked to genetic alterations in COL5A2 and COL5A1, which are essential genes in collagen formation and integrity. The condition is described as uncommon, affecting roughly 1 to 9 individuals per 100,000. Although symptoms often arise in childhood, the exact age of onset can vary, and not all individuals experience every feature.

The clinical presentation of Ehlers-Danlos syndrome, classic type centers on distinctive skin findings and joint issues. Many affected individuals exhibit hyperextensible and soft, doughy skin that can be fragile, along with atrophic and cigarette-paper scars. Generalized joint hypermobility is a hallmark feature, often accompanied by musculoskeletal complaints such as muscle weakness, spasms, and poor wound healing. In a subset of individuals, additional symptoms such as striae, osteopenia, gastrointestinal discomfort including gastroesophageal reflux, nausea, vomiting, and chronic constipation may be observed. Not all individuals experience every feature, and the severity and combination of symptoms vary considerably.

Ehlers-Danlos syndrome, classic type is caused by changes in the COL5A2 and COL5A1 genes that play critical roles in collagen synthesis and connective tissue integrity. Disruption of these genes compromises the stability and strength of connective tissues. While the precise inheritance pattern has not been specified in the available data, the genetic basis underscores the importance of genetic counseling for affected families to better understand recurrence risks and family planning options.

Currently, management of Ehlers-Danlos syndrome, classic type focuses on supportive care and symptom management, as there are no treatments specifically approved for this condition. Treatment is tailored to the individual and generally involves a multidisciplinary team, with regular surveillance to identify potential complications early. Approaches may include physical therapy, pain management, and other supportive interventions to help maintain joint function and improve quality of life. Patients should discuss treatment options with their healthcare team, and genetic counseling is recommended to help navigate long-term management and family planning.

The course of Ehlers-Danlos syndrome, classic type is variable, with outcomes differing widely among affected individuals. With current standards of care and multidisciplinary monitoring, many individuals can lead active lives while managing symptoms. Outcomes described in medical literature continue to evolve as standards of care improve. It is important for families to connect with specialists and genetic counselors for guidance and support, as ongoing surveillance is essential for addressing new or worsening symptoms over time.