Frascari F, Bieth E, Galinier P, Just W, Mazereeuw-Hautier J
Service 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.
Ann Dermatol Venereol. 2012 Aug-Sep;139(8-9):550-4. doi: 10.1016/j.annder.2012.05.006. Epub 2012 Jul 6.
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.
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).
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.
鳃-眼-面综合征（BOFS，MIM#113620）是一种罕见的多畸形综合征，伴有皮肤和眼部异常以及特征性面部畸形。它是一种常染色体显性发育障碍，由转录因子AP-2α基因（TFAP2A，6p24）的突变或缺失引起。我们报告了一例伴有单侧颈部皮肤缺损的非典型BOFS新病例。
一名5岁女孩因颈部右侧先天性线状红斑性皮肤异常入住我院皮肤科。无家族病史。她还表现出特征性面部和眼部畸形。怀疑为BOFS。TFAP2A分子分析显示杂合错义突变c.767C>T（p.Ala256Val）。
BOFS具有变异性，尽管有独特的皮肤特征，但皮肤科医生对此仍不了解。识别该综合征对于改善医疗护理（多学科护理、进一步检查、遗传咨询）很重要。我们报告了一例患者出现单侧颈部皮肤缺损、另外四例患者出现双侧皮肤异常的非典型BOFS病例。与文献一致，似乎不存在特定突变的基因型-表型相关性。
