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Condition/Disorder Synonyms

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  • EDS
  • Cutis hyperelastica

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ICD-9-CM Code

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  • 756.831 Ehlers Danlos syndrome

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ICD-10-CM Code

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  • Q79.6 Ehlers-Danlos syndrome

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Preferred Practice Pattern

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Key Features

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Description

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  • Group of inherited disorders involving collagen
  • Major manifestations2
    • Classical: most common form
      • Autosomal dominant heritability
      • Hyperextensible skin with atrophic scars
      • Easy bruising
      • Friability of tissues, which can result in
        • Hiatal hernia
        • Anal prolapse
        • Bleeding and poor wound-healing,
      • Molluscoid pseudo-tumors (calcified hematomas)
    • Hypermobility of joints: least severe form
      • Autosomal dominant heritability
      • Affects large and small joints
      • Recurrent joint subluxations and dislocations
        • Shoulder
        • Patella
        • Temporomandibular
    • Vascular: most severe form
      • Autosomal dominant heritability
      • Can lead to organ or arterial rupture
      • Thin, translucent skin
      • Facial characteristics
        • Large eyes
        • Thin nose
        • Lobeless ears
        • Short stature
        • Thin scalp hair
    • Kyphoscoliosis
      • Autosomal recessive heritability
      • Scoliosis at birth; progressive throughout life
      • Generalized joint laxity
      • Severe muscle hypotonia at birth
      • Other findings
        • Marfan-like features
        • Microcornea
        • Radiologically considerable osteopenia
    • Arthrochalasia
      • Autosomal dominant heritability
      • Congenital bilateral hip dislocation
      • Other manifestations may include
        • Skin hyperextensibility with easy bruising
        • Tissue fragility, including atrophic scars
        • Muscle hypotonia
        • Kyphoscoliosis
        • Radiologically mild osteopenia
    • Dermatosparaxis
      • Autosomal recessive heritability
      • Severe skin fragility
      • Sagging, redundant skin
      • Substantial bruising
      • Wound healing not impaired
      • Scars not atrophic

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Essentials of Diagnosis2

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  • Characterized by joint hypermobility, skin extensibility, and tissue fragility
  • Six major types (see “Description”) classified according to symptom manifestations and family history
    • Clinical evaluation and family history to identify hypermobile type
      • Joint hypermobility confirmed by a score of five or higher on the nine-point Beighton Scale
    • Skin biopsy to identify vascular, arthrochalasia, dermatosparaxis
    • Urine test to identify kyphoscoliosis

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General Considerations

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  • Hypermobile type is least severe, leads primarily to musculoskeletal complications

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Demographics

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  • Females seek more medical care related to pain and joint complications than males

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Clinical Findings

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Signs and Symptoms

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  • Most often joint- and skin-related3
    • Joints
      • Joint hypermobility: loose, unstable joints; prone to frequent dislocation or subluxation
      • Joint pain
      • Early onset of osteoarthritis
    • Skin
      • Soft, velvety skin
      • Variable skin hyperextensibility
      • Fragile skin that tears or bruises easily
        • Manifests as spontaneous ecchymoses
        • Characteristic brownish discoloration
        • Tendency toward prolonged bleeding despite normal coagulation status
      • Severe scarring
        • Scars found mostly on pressure points (knee, elbow, forehead, chin)
      • Slow and poor wound-healing
      • Easy bruising may be the primary presenting symptom in early childhood
      • Development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas)
  • Chronic pain
    • Physically and psychosocially disabling
    • Variable age of onset, location, duration, quality, severity, response to therapy
    • Affected individuals may also be diagnosed with
    • Other pain syndromes
      • Myofascial pain
      • Neuropathic pain
      • Headaches/migraines
      • ...

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