Surgical management of hand deformities in patients with recessive dystrophic epidermolysis bullosa

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is a congenital disease caused by a mutation in the COL7A1 gene and frequently results in hand contractures and pseudosyndactyly. Although multiple treatments exist that can improve the hand malformations, there are currently still no radical cures for this disease because of its high recurrence rate. The present study reports our experiences on how to improve hand deformities in 11 RDEB patients with surgical management and postoperative skin dressings. Hand function was substantially improved after complete release of pseudosyndactyly and achievement of favorable digital web spaces. Patients were followed up for two years, and nine of which showed slight decrease in hand function characterized by re-narrowed web spaces, digit adhesion and flexed metacarpophalangeal (MP) and interphalangeal (IP) joints, while the last two patients underwent hand reoperation one year after their initial surgery because of recurrence. In conclusion, our results show that surgical correction followed by skin dressing changes is an effective approach to improving mitten-hand malformations in RDEB patients.

Keywords:

• Recessive dystrophic epidermolysis bullosa
• surgical management
• hand deformity
• wound dressing

Disclosure statement

The authors report no conflicts of interest in relation to the content of this work.

Additional information

Funding

This study was supported by National Key Specialty of Clinical Plastic Surgery Project and Shanghai Key Specialty of Clinical Reconstructive Surgery Project.