Publication Date:
2013-06-09
Description:
A 12-year-old girl with a family history of Gorlin syndrome had unilateral, segmentally arranged basaloid skin tumors present since birth, ipsilateral, palmo-plantar pits of rather large size being distributed along Blaschko's 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. This article is protected by copyright. All rights reserved.
Print ISSN:
0007-0963
Electronic ISSN:
1365-2133
Topics:
Medicine
