Macrocephaly and palmoplantar pitting

A 4-year-old boy presented with macrocephaly, hypertelorism and broad forehead (figure 1). His 2-year-old sister and their mother also presented with macrocephaly without developmental delay. The mother had a history of numerous basal skin carcinomas from the age of 20 years and of odontogenic keratocysts since she was a child. All three showed palmoplantar pitting after …