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Ehlers-Danlos Syndrome
Aka: Ehlers-Danlos Syndrome, Ehlers Danlos Syndrome, Cutis hyperplastica, Classic Ehlers-Danlos Syndrome, Classic EDS
- Pathophysiology
- Conective tissue disorder
- Types
- Classic Ehlers-Danlos Syndrome (COL5A1, COL5A2, COL1A1; Autosomal Dominant)
- Skin Hyperextensibility
- Atrophic Scarring
- Generalized joint hypermobility
- Classic-Like Ehlers-Danlos Syndrome (TNXB, Autosomal Recessive)
- Atrophic Scarring absent
- Cardiac-Valvular Ehlers-Danlos Syndrome (COL1A2, Autosomal Recessive)
- Severe progressive cardiac valvular disorders
- Hypermobile Ehlers-Danlos Syndrome (Autosomal Dominant)
- Scarring is mild (and no hemosiderotic scars)
- Skin is not as fragile
- Arthrochalasia Ehlers-Danlos Syndrome (COL1A1, COL1A2; Autosomal Dominant)
- Bilateral Congenital Hip Dislocation
- Dermatosparaxis Ehlers-Danlos Syndrome (ADAMTS2, Autosomal Recessive)
- Significant skin fragility
- Redundant lax skin
- Craniofacial anomalies
- Postnatal growth restriction
- Kyphoscoliotic Ehlers-Danlos Syndrome (PLOD1, Autosomal Recessive)
- Congenital muscle hypotonia
- Kyphoscoliotic Ehlers-Danlos Syndrome with Myopathy and neurosensory Hearing Loss (FKBP14, Autosomal Recessive)
- Congenital muscle hypotonia
- Muscle Atrophy
- Congenital Hearing Deficit
- Exam: Classic Ehlers-Danlos Syndrome
- Skin
- Soft dough-like feel
- Hyperextensible
- Fragile (splits easily with minor Trauma)
- Joint surfaces (e.g. knees, elbows)
- Trauma prone regions (e.g. chin, shins)
- Poor Wound Healing (with scar Stretching)
- Easy Bruising
- Joints
- Hypermobile
- Dislocations are common (e.g. Shoulder, Patella, fingers, hip, radius, clavicle)
- Often relocated by the patient without medical assistance
- Neurologic
- Hypotonia
- Delayed motor development
- Muscle Fatigue
- Myalgias
- Cardiovascular
- Mitral Valve Prolapse (uncommon, and typically benign)
- Aortic root dilation (uncommon, and typically static)
- Diagnosis: Classic Ehlers-Danlos Syndrome
- Major Criteria
- Skin hyperextensibility AND
- Atrophic Scarring AND
- Generalized joint hypermobility OR 3 minor criteria
- Minor Criteria (3 required if absence of Generalized joint hypermobility)
- Easy Bruising
- Soft doughy skin
- Skin fragility or Traumatic splitting
- Molluscoid pseudotumors
- Elevated lesions over scarred pressure points (e.g. elbows, knees)
- Subcutaneous spheroids
- Small round hard densities mobile and palpable within the skin of the forarm or shin
- Hernia
- Epicanthal Folds
- Joint hypermobility complications (sprains, dislocations, flexible flat foot)
- First degree relative with Ehlers-Danlos Syndrome diagnostic criteria met
- Genetic Confirmation (panel)
- COL5A1
- COL5A2
- COL1A1 (less common)
- Differential Diagnosis
- See Hypermobility syndrome
- See types as above
- Imaging
- Echocardiogram
- Indicated for aortic dilation or Mitral Valve Prolapse
- Repeat yearly, if anomaly present
- Management
- General
- Avoid Aspirin
- Avoid Contact Sports
- Hypotonia or delayed motor development
- Physiotherapy
- Pool Exercise and other non-weight bearing activities
- Joint Pain
- NSAIDs
- Skin Wounds
- Close with two layers, and generous deep Sutures to reduce skin tension
- Skin protection (knee pads, shin pads or stockings)
- Bruising
- Vitamin C supplementation may reduce Bruising
- Bleeding complications
- Consider DDAVP
- Prevention: Genetic Counseling
- At least 50% of Ehlers-Danlos Syndrome patients have an affected parent (remainder are de novo)
- Known parent with Classic Ehlers-Danlos Syndrome (EDS) has a 50% chance of a child with EDS
- References
- Malfait in Adam (2018) Classic Ehlers Danlos Syndrome, GeneReviews
- https://www.ncbi.nlm.nih.gov/books/NBK1244/