Loeys–Dietz Syndrome Type II
Subtype with distinct skin-related features
Overview
Type II includes many features of Type I but with more visible skin differences — such as translucent, velvety skin and easy bruising.
Common Symptoms
- Vascular aneurysms and arterial tortuosity
- Translucent or fragile skin
- Easy bruising
- Joint hypermobility
Genetics
Also linked to TGFBR1 and TGFBR2 mutations but shows increased skin involvement.
Management
Vascular monitoring and supportive care for skin and joint symptoms. Avoiding trauma is key.
Download: LDS Type II Research (DOCX)