What is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome
Cutaneous and articular features in patients with cEDS. a-d) marked skin hyperextensibility on the neck, the forearm, the elbow, and the knee; e-h) different scar types, small atrophic, atrophic and hypertrophic, hypertrophic and haemosiderotic; i, j) scars and easy bruising of the knees and pretibial area in a pediatric and an adult patient; k-n) hypermobility of the little finger, the thumb, the elbow and the knee in a pediatric patient; o-p) molluscoid pseudotumors; q) piezogenic papules. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M - Orphanet journal of rare diseases (2013). Not Altered. CC.

Ehlers-Danlos syndrome is a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen.

What is the Pathology of Ehlers-Danlos Syndrome?

The pathology of Ehlers-Danlos syndrome is:

-Etiology: The cause of Ehlers-Danlos syndrome is mutations in a variety of genes, that may lead to abnormalities in the structure, production, and/or processing of collagen.

-Genes involved: Genes including COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, FKBP14 and ADAMTS2.

-Pathogenesis: The sequence of events that lead to Ehlers-Danlos syndrome are mutations in variety of genes leading to change the structure, production, and/or processing of collagen, or proteins that interact with collagen. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs, resulting in the signs and symptoms of EDS.

How does Ehlers-Danlos Syndrome Present?

Patients with Ehlers-Danlos syndrome typically affects either male or female, present at birth or in early childhood. The symptoms, features, and clinical findings associated with Ehlers-Danlos syndrome include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.

How is Ehlers-Danlos Syndrome Diagnosed?

Ehlers-Danlos syndrome is diagnosed by medical history and clinical observation. The Beighton criteria are used to assess the degree of joint hypermobility. Diagnostic tests include collagen gene-variant testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity.

How is Ehlers-Danlos Syndrome Treated?

Ehlers-Danlos syndrome is treated with supportive treatment.

What is the Prognosis of Ehlers-Danlos Syndrome?

The prognosis of Ehlers-Danlos syndrome is dependent on the specific type of EDS they have.

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Last updated on May 25, 2022