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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

      • Chronic fatigue syndrome

      • Fibromyalgia

      • Hypochondriasis

    • Other pain syndromes

      • Myofascial pain

      • Neuropathic pain

      • Headaches/migraines

  • Hematologic

    • Easy bruising

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