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Classic Ehlers-Danlos Syndrome
Aka: Classic Ehlers-Danlos Syndrome, Classic Ehlers Danlos Syndrome, Classic EDS
- See Also
- Ehlers-Danlos Syndrome
- Hypermobility Syndrome
- Pathophysiology
- Autosomal Dominant
- Genes: COL5A1, COL5A2, COL1A1
- Findings
- Skin Hyperextensibility
- Atrophic Scarring
- Generalized joint Hypermobility
- Positive Beighton Hypermobility Score (see below)
- Exam
- 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
- See Generalized Joint Hypermobility Diagnosis (Beighton Hypermobility Score, Five Point Hypermobility Questionnaire)
- Positive Beighton Hypermobility Score (with or without Five Point Hypermobility Questionnaire)
- 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)
- Management
- See Ehlers-Danlos Syndrome
- References
- Malfait in Adam (2018) Classic Ehlers Danlos Syndrome, GeneReviews
- https://www.ncbi.nlm.nih.gov/books/NBK1244/
- Malfait (2017) Am J Med Genet C Semin Med Genet 175(1): 8-26 +PMID:28306229 [PubMed]
- Yew (2021) Am Fam Physician 103(8): 481-92 [PubMed]