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Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome)


Tzschach,  Andreas
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Graul-Neumann, L. M., Stieler, K. M., Blume-Peytavi, U., & Tzschach, A. (2009). Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). American Journal of Medical Genetics Part A, 149(4), 746-750. doi:10.1002/ajmg.a.32728.

Focal facial dermal dysplasia (FFDD) (OMIM 227260) is a rare ectodermal disorder characterized by congenital bitemporal scar-like depressions resembling forceps marks and variable additional facial manifestations. No gene defects or gene loci for FFDD are known to date. We report on a large multi-generational German family with typical characteristics of FFDD and provide a detailed clinical description of four affected individuals. They had large bitemporal discolored dermal depressions, sparse lateral eyebrows, abnormal eyelashes, and dysplastic and low-set ears. Three of the four affected individuals had congenital horizontal nystagmus, which had hitherto only been reported in a single patient with FFDD. In contrast to previous assumptions about an autosomal recessive etiology of this disorder, this family provides further evidence that FFDD is inherited in an autosomal dominant mode. Although this family is not large enough to yield significant results in linkage analysis, it may, in combination with other families, contribute to the identification of a gene locus for this intriguing ectodermal disorder.