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.
Hydraulic debridement of the RPE in vivo is a useful investigational model that provides important insight into the pathogenesis of outer retinal disorders and their treatment with such techniques as submacular surgery or RPE transplantation.
Summary
Two patients are reported in whom early‐onset, distal papules with a histopathological diagnosis of basal cell carcinoma were the first manifestation of Gorlin syndrome (GS). These lesions showed no progression and remained stable through follow‐up. Two different PTCH1 gene mutations were detected in the two patients, and thus a phenotype–genotype correlation of this manifestation of GS was not possible.
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