The diagnostic criteria for Classical EDS are primarily made up of skin and joint findings (Bowen et al, 2017). There may be a family history of the condition but this is not always the case. Typical features of cEDS are:
  • Non-traumatic / spontaneous onset atrophic scars
  • The skin is smooth and velvety to touch. It is also hyper-elastic - it is stretched easily but it snaps back in to shape when released unlike certain skin conditions like Cutis Laxa, a condition associated with abnormality of the protein Elastin. Other skin findings that may appear in Classical EDS include: raised and thickened layers of skin termed ‘molluscoid pseudotumours’; small mobile nodules deep in the skin called ‘subcutaneous spheroids’; herniations of underlying fatty tissue through the lower layer of the skin leading to small painful lumps called Piezogenic papules; blue, cold, and sweaty (but not painful) skin due to constriction of blood vessels that return to normal – called Acrocyanosis; and, Chilblains, red and painful swellings after exposure to cold.
  • The skin is also very fragile. Its deep layers can split or shear following relatively minor trauma. Severe bruising then arises. Typical sites where this might occur include pressure points such as the elbows, buttocks, knees, and feet, and at sites commonly prone to blunt injury such as the scalp and forehead, and shins. Wound healing is delayed, and scars will often stretch to a considerable degree, and appear paper thin (papyraceous scars).
  • Joint hypermobility in Classical EDS is typically widespread affecting both large and small joints. It is often noted first when a child starts to walk. Dislocations are common. Other complications of joint hypermobility such sprains and subluxations (partial dislocations) occur. Occasionally joints are painful but this seems far less common than in the Hypermobility type.
  • There may be muscle weakness or low tone (hypotonia) perhaps manifesting in childhood as a delay in development of motor skills (e.g., holding head up, crawling, walking).
  • Other tissues may be fragile: e.g., the diaphragm or abdominal wall leading to a hernia, or prolapse of the rectum (‘back passage’) from early childhood, or weakness of the pelvic floor and support structures of the womb during pregnancy.
  • Occasionally (found in less than 1 in 20 cases) there may be blood vessel and heart valve abnormalities such as dilation of the aorta or mitral valve or tricuspid valve prolapse. These seem to be mild and unlikely ever to be in need of intervention with medicines or surgical repair.
A variant of cEDS, so called 'Classic-like' is considered to be due to changes in the structural protein Tenascin.