Vascular Ehlers-Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report).

ABSTRACT

Patients with null variants may have milder vascular Ehlers-Danlos syndrome, presenting with seemingly non-specific complaints and subtle cutaneous features that may be missed. A high index of suspicion and early genetic testing (aided by next-generation sequencing) were crucial for prevention of life-threatening complications in the patient and family members.