Ehlers-Danlos Syndrome (EDS):
Heterogenous group of disorders characterised by the clinical triad of joint hypermobility, dermal extensibility, and cutaneous scarring but clinical manifestations can be variable/heterogenous. Wound healing is also impaired.
Several classifications.
Beighton et al (1999) nosology and clinical features of subtypes of EDS:
Type Clinical features Inheritance Basic defect
Classical (formerly EDS I & II gravis and mitis type) Major: Skin hyperextensibility, widened thin scars, joint hypermobility
Minor: smooth velvety skin, muscle hypotonia, easy bruising Autosomal dominant Abnormality of pro-alpha1(V) or pro-alpha2(V) chain of the type V collagen
Hypermobility (formerly EDS III, hypermobility type) Major: generalised joint hypermobility, skin hyperextensibility,
Minor: recurrent ankle dislocations, chronic joint and limb pain Autosomal dominant Unknown
Vascular (formerly EDS IV, arterial or ecchymotic type) Major: arterial/intestinal and uterine fragility or rupture, easy bruising
Minor: hypermobility of small joints, tendon and muscle rupture, clubfeet, varicose veins, sudden death Autosomal dominant Structural defects in the pro-alpha1(III) chain of collagen type III
Kyphoscoliosis (formerly EDS VI ocular or scoliosis type) Major: generalised joint laxity, severe muscle hypotonia in infancy, scoliosis present at birth, fragility of sclera of eye
Minor: tissue fragility, easy bruising, arterial rupture Autosomal recessive Deficiency of lysyl hydroxylase
Arthrochalasia (formerly included in EDS VIII) Major: severe generalised joint hypermobility, congenital hip dislocation
Minor: skin hyperextensibility, tissue fragility and scarring, muscle hypotonia, osteopenia Autosomal dominant Deficiencies of pro-alpha1(I) or pro-alpha2(I) chain of the type I collagen
Dermatosparaxis (formerly included in EDS VII) Major: Severe skin fragility, sagging, redundant skin
Minor: soft skin texture, hernias, easy bruising Autosomal recessive Deficiency of procollagen 1 N-terminal peptidase in collagen type 1
Foot deformities/considerations in Ehlers-Danlos Syndrome:
Talipes equinovarus as birth can occur.
Pes planus is consistent feature not necessarily painful, but do have shoe fitting problems
easy bleeding/bruising
joint instability and dislocation
chilblains common
cramps/pains in leg – especially at night
premature osteoarthritis
Poor response to local anaesthetics:
http://hypermobility.org/help-advice/local-anaesthetic/
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