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Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report
A Barreiro-González1, H Barranco-González1, J Aviñó-Martínez1
1Servicio de Oftalmología, Hospital Universitario y Politécnico La Fe, Valencia, España.
Archivos De La Sociedad Espanola De Oftalmologia
|November 21, 2018
Summary
Barber-Say syndrome, a rare genetic dysplasia, presents unique surgical challenges. This case highlights novel skin grafting techniques from the supraclavicular fossa and forearms for palpebral reconstruction.
Area of Science:
- Genetics
- Developmental Biology
- Plastic Surgery
Background:
- Barber-Say syndrome is a rare genetic disorder characterized by specific dysmorphic features.
- It results from mutations in the TWIST2 gene, affecting epigenetic regulation.
- The syndrome poses significant surgical challenges, particularly in managing ectropion and other facial abnormalities.
Observation:
- A 2-day-old male infant presented with ectropion, hypertelorism, and hypertrichosis, indicative of Barber-Say syndrome.
- Genetic testing confirmed the diagnosis.
- The patient required complex surgical intervention for palpebral reconstruction.
Findings:
- This report details a novel surgical approach for Barber-Say syndrome, employing lateral tarsorrhaphy.
- Skin grafts were sourced from the volar forearm, retroauricular area, and supraclavicular fossa.
- Autologous lipografts from the inner thighs were utilized for palpebral reconstruction.
Implications:
- This case introduces the first documented use of supraclavicular fossa and forearm skin grafts for Barber-Say syndrome.
- The described surgical techniques offer potential solutions for managing this rare condition.
- Further research into reconstructive options for Barber-Say syndrome is warranted to improve patient outcomes.
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