Arthrochalasia and dermatosparaxis Ehlers-Danlos syndromes

Ehlers-Danlos support charities currently recognise 13 types, listed alphabetically from arthrochalasia to vascular. Ehlers-Danlos Support UK describes most as incredibly rare, with hypermobile EDS the notable exception. Arthrochalasia and dermatosparaxis sit alongside classical, kyphoscoliotic and vascular types in the group where the responsible gene is known and a blood test can confirm the diagnosis.

The NHS page on Ehlers-Danlos syndromes focuses on the four types people are most likely to meet, which are hypermobile, classical, vascular and kyphoscoliotic. These two rarer types are therefore less likely to be recognised quickly in a local clinic, and referral to the national services is the usual route to a firm answer.

MedlinePlus Genetics links arthrochalasia EDS to changes in the COL1A1 or COL1A2 genes, which carry the instructions for type I collagen. It describes infants with hypermobility and dislocation of both hips at birth. The condition is inherited in an autosomal dominant way, so a single altered copy of the gene is enough.

NORD describes a lifelong risk of several major joints dislocating at the same time. Newborns can have marked muscle weakness and hip dislocation, which can be hard to tell from kyphoscoliotic EDS, and NORD stresses that early identification matters because of the physical disability that can follow in later life. Skin may be stretchy and bruise easily, but the joint problems usually dominate.

MedlinePlus Genetics ties this type to the ADAMTS2 gene, which makes an enzyme that trims newly made collagen so that it assembles properly. Without it, collagen forms poorly and skin becomes loose, sagging and wrinkled with extra folds. Inheritance is autosomal recessive, which means a child needs two altered copies, usually one from each carrier parent.

NORD reports short stature and short fingers, loose facial skin, full eyelids, blue-tinged whites of the eyes and a small jaw. Herniation is a major complication, especially after abdominal surgery because wounds heal slowly, and infants may have soft spots on the skull that close late. The skin is fragile rather than scarring in the way classical EDS does.

Ehlers-Danlos Support UK explains that some rare types can be confirmed by genetic testing, and that two NHS National EDS Diagnostic Services, one in London covering the south of England and one in Sheffield covering the north, serve adults and children with confirmed or suspected rare types. The NHS confirms that referral can be made to genetics services and to specialist diagnostic centres in these cities. A GP, paediatrician or geneticist normally makes the referral.

There is no specific treatment for EDS in general, according to the NHS, so care focuses on prevention and support. For arthrochalasia, NORD describes avoiding heavy sports and strenuous activity that could trigger dislocations, physiotherapy and braces or assistive devices. For dermatosparaxis it describes careful wound management with sutures left in longer, precautions against hernias and ruptures, and protective bandaging of exposed areas such as elbows and knees.

Because arthrochalasia is dominant and dermatosparaxis is recessive, the chances for relatives differ. A genetics service can explain risks for siblings and future children and discuss testing options in pregnancy. Parents who are carriers of a recessive change do not themselves usually have symptoms.

Surgery or anaesthesia in anyone with a rare EDS type should be planned with the specialist team, since tissue fragility affects stitching, healing and positioning. Seek urgent help for a joint that stays out of place with severe pain or loss of feeling, a wound that opens, a sudden bulge that is tender or cannot be pushed back, or severe abdominal pain. Call 999 for collapse or heavy bleeding.