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A child presents with soft, velvety, hyperextensible skin that bruises easily. She has "cigarette paper" scars from minor trauma. Joint hypermobility is present.
AD; COL5A1 or COL5A2 (type V collagen) - most common
- Also rare: COL1A1
- Marked skin hyperextensibility
- Atrophic "cigarette paper" scars (papyraceous scarring)
- Joint hypermobility
- Easy bruising
- Soft, doughy skin texture
- Molluscoid pseudotumors, subcutaneous spheroids
- Clinical + confirmatory genetic testing
- Skin protection and meticulous wound closure (low-tension sutures, prolonged support of healing scars)
- Joint protection, low-resistance physical therapy, bracing for hypermobility
- Baseline echocardiogram to screen for aortic root dilation
- Cardiology and orthopedic referral as needed
Ehlers-Danlos Syndrome = Extensibility of skin, ligamentous laxity (Dan = "dangling" joints), Skin involvement: LOOSE connective tissues.
This table maps COL gene types to their associated prototypical collagen disorders and useful memory devices.
