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[Branchio-oculo-facial syndrome].

F Frascari1, E Bieth, P Galinier

  • 1Service de dermatologie, centre de référence des maladies rares de la peau, université Paul-Sabatier, hôpital Larrey, CHU de Toulouse, 24, chemin de Pouvourville, TSA 30030, 31059 Toulouse cedex 9, France. frascari.flora@gmail.com

Annales De Dermatologie Et De Venereologie
|September 12, 2012
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Summary
This summary is machine-generated.

Branchio-Oculo-Facial Syndrome (BOFS) is a rare genetic disorder. A new case highlights atypical presentations and the importance of recognizing its distinct skin features for better patient care and genetic counseling.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Dermatology

Background:

  • Branchio-Oculo-Facial Syndrome (BOFS) is a rare autosomal dominant disorder characterized by polymalformations, including cutaneous, ocular, and facial anomalies.
  • BOFS is caused by mutations or deletions in the TFAP2A gene, a crucial transcription factor for development.

Observation:

  • A 5-year-old girl presented with a congenital, unilateral cervical cutaneous defect, facial anomalies, and ocular abnormalities, suggesting BOFS.
  • Molecular analysis identified a heterozygous missense mutation (c.767C>T, p.Ala256Val) in the TFAP2A gene.

Findings:

  • The case demonstrates the variability of BOFS, presenting an atypical unilateral cervical cutaneous defect.
  • No clear genotype-phenotype correlation was observed between the TFAP2A mutation and the specific clinical manifestations.

Implications:

  • Increased dermatological awareness of BOFS is crucial due to its distinctive cutaneous features.
  • Early identification facilitates multidisciplinary care, further diagnostic tests, and genetic counseling for affected families.
  • Understanding BOFS variability aids in managing patient care and prognosis.