Ehlers-Danlos syndrome type IV (arterial, ecchymotic or Sack type)

Introduction

most severe form of Ehlers-Danlos syndrome

Pathology

• connective tissue disorder

Genetics

• associated with defects in COL3A1

Clinical manifestations

• hyperextensible skin
• atrophic cutaneous scars due to tissue fragility
• joint hyperlaxity
• facial features (acrogeria) in most patients
• proneness to spontaneous rupture of bowel & large arteries
• vascular complications may affect all anatomical areas
• extensive scar & hyperpignmentation over bony prominences

More general terms

• Ehlers-Danlos syndrome; cutis elastica (EDS)

More specific terms

• Ehlers-Danlos syndrome type IV, autosomal dominant
• Ehlers-Danlos syndrome type IV, autosomal recessive

Additional terms

• collagen 3 alpha-1

Database

• OMIM: https://mirror.omim.org/entry/120180
• OMIM: https://mirror.omim.org/entry/13005