221: EHLERS–DANLOS SYNDROME

Martha Henao Bloyer, DPT, PT, PCS

CONDITION/DISORDER SYNONYMS

EDS
Cutis hyperelastica

ICD-9-CM CODE

756.83 Ehlers–Danlos syndrome

ICD-10-CM CODE

Q79.6 Ehlers–Danlos syndrome

PREFERRED PRACTICE PATTERN

5F: Impaired Peripheral Nerve Integrity and Muscle Performance Associated with Peripheral Nerve Injury¹

PATIENT PRESENTATION

A 15-year-old female was referred with low back pain and a recent diagnosis of Ehlers–Danlos Syndrome: hypermobility type. She reports pain is 8/10 with activity and 6/10 when seated. During the examination and evaluation, she scores a 6 on the Breighton Scoring System and has severe hypermobility. She also complains of generalized muscular and joint pain limiting her ability to participate in activities with her peers at school and socially. Her affect appears flat and withdrawn during the therapy session. Past medical history is non-contributory. Referral has been made to decrease pain, promote joint stability, and improve overall strengthand posture.

KEY FEATURES

Description

Group of inherited disorders involving the connective tissue collagen^2,3
Major manifestations include²
- 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
    - Lobe-less 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

FIGURE 221-1

Ehlers-Danlos syndrome. (A) Hyperextensible skin. (B) Lax joints. Redundant chordae tendineae and arterial rupture may occur. (From Fuster V, Walsh RA, Harrington RA: Hurst’s The Heart, 13^th Edition. www.accessmedicine.com. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)

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Essentials of Diagnosis

Characterized by joint hypermobility, skin extensibility and tissue fragility²
Six major types, classified according symptom manifestations and family history²
- 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 the following types
  - Vascular
  - Arthrochalasia
  - Dermatosparaxis
- Urine test to identify
  - Kyphoscoliosis type

General Considerations

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