EDS Villefranche classification of different types:
Classical type (Former types I and II)
- Over-stretchable skin
- Wide atrophic scars
- Generalized hypermobility
- 1-3 speaks strongly for diagnosing ED's classical type.
Other characteristics: Blood exudates (hematomas), poor wound healing, autosomal dominant inheritance
- Genes: COL3A genes
Hypermobility type (Former type III):
- General hypermobility
- Soft, velvety, over-stretchable skin
- Repeated luxuries of joints ("out of joint, sprain")
- Chronic pain in joints or muscles.
- Osteoarthritis
- Gener: COL3A1, TNXB
Vascular type: (Former type IV).
- Fragility or rupture of arteries / intestines / uterine organs
- Gets very easy wounds and blue marks
- Typical feature (appearance)
- Hypermobility of small joints
- Tendon rupture / muscle rupture
- Clubfoot
- Varicose Veins that occur at a young age
- The skin seems old (akro-geri)
- Pneumothorax (Punctured lung)
- Autosomal dominant defect in Type III carbon synthesis
- Genes COL 3A1
Kyfo-scoliosis type (Former type VI)
- Generally hypemobile joints
- Markedly muscle hypotension (relaxed muscles) in newborns
- Progressive scoliosis (Back) from early childhood
- Fragile sclera (eye)
- Atrophic scars
- Hematoms (blood eccymoses)
- Artrerial ruptures with bleeding
- Microcornea (defective on the cornea of the eye)
- Marfan's syndrome have similar looks
- Osteopenia (low bone mass)
- Autosomal recessive heritage
- Lysyl hydroxylase (enzyme) deficiency
- Urine: Hydroxyl pyridinoline and lysyl pyridinoline by HPLC
- Rare. Less than 60 reported cases worldwide
Arthrochalasia type (Former type VIIA and VIIB):
- Pronounced generalized hypermobility with luxations (dislocated joints)
- Congenital bilateral hip luxations
- Over-stretchable skin
- Atrophic scars
- Hematoms (blood eccymoses)
- Hypotension (relaxed) muscle
- Kyphoscoliosis
- Osteopenia (low bone mass)
- Autosomal dominant inheritance
- Defective in collagen-I synthesis
- Analysing for mutation
- Rarely, ca 30 reported cases worldwide
Dermatosparaxis type (Former type VIIc)
- Pronounced fragile skin, redundant, soft and dense skin
- Hematoms (blood eccymoses)
- Groin and omphalocele
- Premature rupture of the fetal membrane in pregnancy
- Very rare, Ca 10 reported cases worldwide
Ehlers-Danlos Syndrome, BINDEVEVSSYKDOMMER.NO
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