Classification of EDS types 3/5 (1)

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EDS Villefranche classification of different types:

Classical type (Former types I and II)

  1. Over-stretchable skin
  2. Wide atrophic scars
  3. 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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