Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.

We report here a three generations family with nevoid basal cell carcinoma syndrome (NBCCS) in which the diagnosis was made only after a second trimester of pregnancy ultrasonography revealing fetal cranio-cerebral malformations. A mutation was subsequently characterized in the aborted fetus, as well as in the mother, sister and grand-mother as an 18bp deletion in exon 15 of the patched homologue 1 (PTCH1) gene. MC1R gene sequencing identified in two NBCCS patients affected by multiple basal cell carcinomas a functional MC1R variant, D294H, previously shown to be associated with skin cancer risk.