Funding sources None.
Molecular evidence of type 2 mosaicism in Gorlin syndrome
Article first published online: 2 DEC 2013
© 2013 British Association of Dermatologists
British Journal of Dermatology
Volume 169, Issue 6, pages 1342–1345, December 2013
How to Cite
Torrelo, A., Hernández-Martín, A., Bueno, E., Colmenero, I., Rivera, I., Requena, L., Happle, R. and González-Sarmiento, R. (2013), Molecular evidence of type 2 mosaicism in Gorlin syndrome. British Journal of Dermatology, 169: 1342–1345. doi: 10.1111/bjd.12458
Conflicts of interest None declared.
- Issue published online: 2 DEC 2013
- Article first published online: 2 DEC 2013
- Accepted manuscript online: 8 JUN 2013 12:54AM EST
- Manuscript Accepted: 2 JUN 2013
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.