Molecular evidence of type 2 mosaicism in Gorlin syndrome

Summary We present a 12‐year‐old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth, ipsilateral, palmoplantar pits of rather large size distributed along Blaschko lines, and an ipsilateral odontogenic keratocyst. The patient and her father were heterozygous for a germline mutation in the form of a single‐base substitution in exon 18 of the PTCH1 gene. In the patient's lesional skin, a microdeletion in exon 3 of PTCH1 was detected, giving rise to a truncated protein. This additional mutation was ruled out in the contralateral skin and in blood lymphocytes, thus confirming its mosaic state. In this way we provide for the first time molecular proof of a type 2 segmental involvement of this autosomal dominant trait. What's already known about this topic? Gorlin syndrome may rarely occur in a segmental mosaic state. What does this study add? We present a patient with Gorlin syndrome and a superimposed, more severely affected mosaic area of her skin with Gorlin syndrome. Molecular evidence of both germline and mosaic mutations in PTCH1 is provided.