Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations

Abstract

We report familial segregation of hereditary total leuconychia (HTL) with ptosis and restriction of ocular motility due to congenital fibrosis of the extraocular muscles type 1 (CFEOM1) in three generations. In this family, 4 people have HTL and ptosis, and there is restriction of ocular motility due to CFEOM1 in 10 members of the family. To our knowledge, this is the first description of familial segregation of CFEOM1 and HTL, and the second report of unexpected clinical involvement of CFEOM1. We suggest that CFEOM1 is not an isolated phenomenon in these cases. These phenotypes provide valuable insight into the function of the gene(s) localized to 12q13, giving a new perspective on the clinical component of molecular dysmorphology, but this requires further clarification.