Ehlers-Danlos: Arthrochalasis-Multiplex Congenita; Cutis Hyperelastica; EDS

Ehlers-Danlos syndrome consists of several types of genetic connective tissue disorders. In general, these are due to collagen (a naturally occurring protein) abnormality. Common characteristics include abnormalities of the skin, ligaments and, in some instances, internal organs. Problems include fragile andIor stretchy skin, bruising, poor wound healing and loose joints, which are prone to dislocation and subluxation (partial dislocation). Chronic joint and limb pain is common even when skeletal radiographs are normal. Early degenerative arthritis, mitral valve prolapse and hernias may also present problems. Prematurity due to rupture of the fetal membranes can occur in pregnancy. When bruising presents in a child it may be incorrectly attributed to non-accidental injury.

These problems form the major difficulties bringing patients to the notice of Medical and Surgical Specialists. Many patients will be directed to Physiotherapy and Occupational Therapy for help with the musculoskeletal and ergonomic aspects.

The following issues are reported less frequently in those with EDS. However, they occur more frequently than in the non-EDS population. Hearing loss, ruptured ear drums, problems of making and maintaining voice alongside difficulties with articulatory development and maintenance of clarity are not uncommon. Difficulties with chewing and effective swallowing occur. Language development can be delayed. Many of these areas are affected by early ageing. Affected individuals will be directed to Speech & Language Therapists.

The different types of the syndrome are not graded in order of severity of the condition but each is a distinct type. Severe forms of the condition may be life threatening.

The re-categorisation of the Ehlers-Danlos syndromes appeared in the Revised Nosology, Villefranche, 1997.

Classical type (Formerly EDS I & II, gravis and mitis type).
Major clinical features: Skin hyperextensibility; widened thin scars; joint hypermobility.
Minor clinical features: Smooth velvety skin; complications of loose joints; muscle hypotonia; easy bruising; manifestations of tissue extensibility (hernia, cervical insufficiency, etc); positive family history of EDS.
Basic defect: Abnormality of the pro alpha 1 (V) or pro alpha 2 (V) chain of the type V collagen encoded by COL5A1 and COL5A2 genes (in some but not all families).

Hypermobility type (Formerly EDS III hypermobile type).
Major clinical features: Generalised joint hypermobility; skin hyperextensible and smooth or velvety.
Minor slinical features: Recurrent joint dislocations; chronic limb and joint pains; positive family history of EDS.
Basic defect: Unknown.

Vascular type (Formerly EDS Type IV arterial or ecchymotic type).
Major clinical features: Arterial/intestinal/uterine fragility or rupture; easy bruising; characteristic facial appearance.
Minor clinical features: Hypermobility of small joints; tendon and muscle rupture; clubfeet; varicose veins; positive family history of EDS; sudden death of close relative.
Basic defect: Structural defects in the proa I(III) chain of collagen type III, encoded by the COL3A1 gene.

Kyphoscoliosis type (Formerly EDS VI ocular or scoliosis type).
Major clinical features: Generalised joint laxity; severe muscle hypotonia in infancy; scoliosis present at birth and progressive; fragility of the sclera of the eye.
Minor clinical features: Tissue fragility; easy bruising; arterial rupture; marfanoid body shape; microcornea; skeletal osteopenia on X-ray; positive family history of affected siblings.
Basic defect: Deficiency of lysyl hydroxylase, a collagen modifying enzyme.

Arthrochalasia type (Formerly EDS VIIB type).
Major clinical features: Severe generalised joint hypermobility with dislocations; congenital bilateral hip dislocations.
Minor clinical features: Skin hyperextensibility; tissue fragility and scarring; easy bruising; muscle hypotonia; kyphoscoliosis; skeletal osteopenia on X-ray; positive family history of EDS.
Basic defect: Deficiencies of the proa (l) or proa 2(l) chains of collagen type I due to skipping of exon 6 in the COL1A1 or COL1A2 gene.

Dermatosparaxis type (Formerly EDS VII type).
Major clinical features: Severe skin fragility; sagging, redundant skin.
Minor clinical features: Soft, doughy skin texture; easy bruising; premature rupture of fetal membranes; hernias.
Basic defect: Deficiency of procollagen 1 N-terminal peptidase in collagen type I

Inheritance patterns
Typically autosomal dominant: Classical type; Hypermobility type; Vascular type; Arthrochalasia type.
Autosomal recessive: Kyphoscoliosis type; Dermatosparaxis type.

Prenatal diagnosis
Gene marker tests are available at present for a few types of Ehlers-Danlos syndrome. Further details should be obtained from your physician.

Medical text written by Professor P Beighton, Department of Human Genetics, University of Cape Town, Cape Town, South Africa. Last updated April 2004 by Professor H A Bird, Professor of Pharmacological Rheumatology, Leeds General Infirmary, Leeds, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

EHLERS-DANLOS SUPPORT GROUP

Ehlers-Danlos Support Group
PO Box 337
Aldershot
GU12 6WZ
Tel: 01252 690940
e-mail: info@ehlers-danlos.org
Web: http://www.ehlers-danlos.org

The Group is a National Registered Charity No. 1014641, established in 1988. It offers individual support by phone, letter and e-mail and attempts to link members for mutual support where possible. It maintains a list of specialists with particular interest in and experience of the condition. It publishes a six monthly newsletter for members and has a wide range of information available, details on request.

Group details last confirmed October 2007.