Classical Ehlers-Danlos syndrome: skin and joints

Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions affecting connective tissue, which supports the skin, tendons, ligaments, blood vessels, internal organs and bones. The NHS says there are 13 types. Classical EDS is one of them. It tends to affect the skin more than hypermobile EDS does.

In classical EDS, the genes involved make type V collagen. Ehlers-Danlos Support UK explains that when these genes are altered there is a lack of this collagen, which disrupts how collagen fibres pack together. That makes connective tissue less effective, particularly in skin and joints.

A note on sources: UK sources written specifically about classical EDS are limited. The NHS page covers it in one short paragraph. Most detail on this page comes from Ehlers-Danlos Support UK, in an article written by genetic counsellors at the EDS National Diagnostic Service. This page does not give statistics we could not verify.

The NHS lists joint hypermobility, loose and unstable joints that dislocate easily, stretchy skin, fragile skin that can split easily (especially over the forehead, knees, shins and elbows), smooth velvety skin that bruises easily, slow-healing wounds that leave wide scars, and hernias and organ prolapse.

Ehlers-Danlos Support UK describes the scars as often starting in childhood and becoming wide and thin, sometimes described as like tissue paper. It adds that wide scars after knee surgery alone are not a good indicator of classical EDS. Bruising can leave lasting discolouration, often on the shins.

• Joint dislocations or partial dislocations, with chronic joint pain in some people.

• Fatigue, which regular gentle exercise may help.

• Piezogenic pedal papules: fat lumps around the heel, due to weakly held fat pads.

• Molluscoid pseudotumours: fleshy lesions over elbows and knees linked to scars.

• Subcutaneous spheroids: small, hard, movable nodules under the skin of the arms and legs.

• People with classical EDS seem less likely to develop stretch marks. These extra features are not harmful and are not found in everyone.

The EDS National Diagnostic Service team writes that most people with classical EDS have a change in the COL5A1 gene. Some have a COL5A2 change, and in some the genetic cause still cannot be identified.

The NHS says classical EDS follows autosomal dominant inheritance. The altered gene is passed on by one parent and there is a 1 in 2 chance of each child developing the condition. Ehlers-Danlos Support UK adds that not everyone has a family history, because it can start in a person for the first time, and that the chance of passing it on remains 50% even then. The NHS also says a person can only pass on the same type of EDS.

Ehlers-Danlos Support UK says it is often possible to diagnose classical EDS from examination and medical history, with genetic testing helpful to confirm. The clinical features it highlights are fragile skin that splits with minimal trauma, stretchy skin, joint hypermobility with dislocations, and easy bruising.

The NHS says that if one of the rare types is possible, a GP can refer you to the local genetics service. The genetics specialist asks about medical and family history, assesses symptoms and may carry out a genetic blood test. If more investigation is needed, a hospital doctor can refer you to a specialist EDS diagnostic service in Sheffield or London.

If genetic testing is unclear, a skin biopsy may be considered. Under local anaesthetic a small piece of skin is taken from the inner upper arm and examined under an electron microscope. Ehlers-Danlos Support UK says the changes seen in classical EDS are known as collagen flowers or cauliflower fibrils.

The NHS says there is no specific treatment for EDS, but many symptoms can be managed with support and advice. Physiotherapists teach exercises to strengthen joints, avoid injuries and manage pain. Occupational therapists help with daily activities and equipment. Counselling and cognitive behavioural therapy may help with coping with long-term pain.

Skin protection is a particular focus. Ehlers-Danlos Support UK suggests limiting bare skin, wearing layers, padding bruises, using a plain moisturiser, wearing shin, knee and elbow pads for outdoor activities, using a cycling helmet, and wearing sunscreen daily because people with classical EDS are more prone to sun damage and premature ageing.

For wounds, the charity advises getting treatment quickly to close the wound, with layered stitching preferably by a plastic surgeon. Stitches stay in about twice as long as normal, and steri-strips may be used as extra support. Confirmed patients can ask the National Diagnostic Service about a classical EDS emergency card.

• Contact sports such as rugby, ice hockey, boxing and martial arts are best avoided, and competitive football or basketball are discouraged, according to the charity. Trampolining is not encouraged if dislocations are a problem.

• Pilates and other gentle exercise can build core strength and protect joints.

• Pacing activity helps avoid the boom-and-bust cycle that leads to severe fatigue.

• The NHS says to avoid heavy lifting for some people and not to be overprotective: living a normal life is important.

Ehlers-Danlos Support UK says there is little clear-cut evidence on cardiac screening in classical EDS. It suggests heart ultrasound scans (echocardiograms) in childhood, repeated in adulthood, because heart valves may be floppy.

Women with classical EDS should tell their midwife and obstetrician. The charity says extra care is needed in delivery because of a higher risk of vaginal and perineal tearing, and that there is an increased risk of early rupture of membranes and premature delivery if either parent has classical EDS. Instrumental delivery should be avoided because of tissue fragility.

Tell any surgical team about the diagnosis. Wounds, hernias and prolapse repairs may need extra planning. Genetic counselling is available to explain the chance of passing the condition on.

Use A&E or call 999 for a large or deep wound that will not stop bleeding, a dislocated joint with numbness or a cold, pale limb, severe injury, or sudden severe chest or abdominal pain. When you attend, say that you have classical EDS and ask whether a plastic surgeon can close wounds.

See a GP for several troublesome symptoms. The NHS says you do not usually need to worry if you have only a few symptoms that are not causing problems, because joint hypermobility alone is relatively common, affecting around 1 in 30 people.

The usual NHS route is GP, then rheumatology or local genetics, and where a rare type is possible referral to the national EDS diagnostic service. Physiotherapy, occupational therapy and pain services support day-to-day management.

A private opinion from a rheumatologist, geneticist or dermatologist may speed up assessment, but confirmation of rare types and specialist advice on wounds and pregnancy are usually coordinated through NHS genetics services. Keep your results and diagnostic letters together so they can be shared.