Ehler Danlos Syndrome

Ehler Danlos Syndrome: Group of inherited connective tissue disorders caused by a defect in synthesis of collage.

Etiology: Mutation in the following – Fibrous proteins: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2 and TNXB or Enzymes: ADAMTS2, PLOD1. Mutations in these genes alter the process or collagen or proteins that interact with collagen.

Diagnosis: Made through clinical observation. Skin biopsy is useful.

System/medical conditions associated: highly flexible fingers and toes, loose unstable joints, flat feet, joint pain without inflammation, debilitating fatigue, high and narrow palate, vulnerability to chest and sinus infections, easy bruising, fragile blood vessels, smooth, stretchy skin, abnormal wound healing, low muscle tone, early onset of osteoarthritis, cardiac effects such as valvular heart disease, difficulty regulating blood temperature, severe mouth ulcers, food allergies, sensitivity to medication, insensitivity to local anesthetics, migraines and headaches, fibromyalgia, arachnodactyly. Less common are osteopenia, deformities of the spine, functional bowel disease, nerve compression disorders, vascular skin conditions, blue sclera, otosclerosis, premature rupture of membranes, platelet aggregation failure, swan neck deformity of the fingers.

Oral manifestations: Abnormal wound healing, thin and fragile mucosa, easy bleeding and bruising. Patients can touch the tip of their nose with their tongue. Enamel, dentine and cementum defects. Increased tendency to develop multiple pulp stones and TMJ hypermobilty.

Dental needs: Prevention of dental disease, periodontitis. Awareness of insensitivity to anesthetics.

Recent information: Outlooks for EDS depends of the severity of disease. Lifelong disease, no cure.