[Branchio-oculo-facial syndrome]

Abstract

Background: Branchio-Oculo-Facial Syndrome (BOFS, MIM#113620) is a rare, polymalformational disorder with cutaneous and ocular abnormalities and characteristic facial anomalies. It is an autosomal dominant developmental disorder caused by mutations or deletions in the transcription factor AP-2 alpha gene (TFAP2A, 6p24). We report a new case of atypical BOFS with a unilateral cervical cutaneous defect.

Patient and methods: A 5-year-old girl was admitted to our dermatology department for a congenital, linear, erythematous cutaneous anomaly on the right side of her neck. There was no family history. She also presented characteristic facial and ocular anomalies. BOFS was suspected. TFAP2A molecular analysis revealed a heterozygous missense mutation c.767C>T (p.Ala256Val).

Discussion: BOFS is variable and remains unknown to dermatologists in spite of distinctive cutaneous features. Identification of this syndrome is important to improving medical care (multidisciplinary care, further tests, genetic counselling). We report a case of atypical BOFS with a unilateral cervical cutaneous defect in one patient and bilateral cutaneous anomalies in the other four patients. In agreement with the literature, there did not appear to be mutation-specific genotype-phenotype correlations.