and acral regions, with acrochordon-like lesions on the neck (Fig. 1c). Suspecting naevoid BCC syndrome (NBCCS), we performed a complete molecular analysis of the Patched 1 gene (PTCH1), sequencing both strands of all exons and flanking intronic fragments, and visualizing the sequences by capillary electrophoresis (Fig. 2). A frameshift mutation c.2315_2318delAGAC in exon 15 of the PTCH1 gene was found. This mutation shifts the framework from codon 772, which causes a stop codon at position 1004 (p.R772RfsX232), resulting in loss of protein function. Genetic studies of both parents and the patient’s sister were negative, suggesting that this is a sporadic mutation. In 1996, two reports described germline mutations in the PTCH gene in patients with NBCCS. Since then, around 300 different mutations have been reported, the majority being frameshift or nonsense mutations. Many of the reported cases are sporadic, emphasizing the high frequency of spontaneous mutations in the PTCH1 gene. NBCCS or Gorlin syndrome is an autosomal dominant condition characterized by the early onset of multiple basal cell carcinomas (BCC), usually between the first and second decades of life, mandibular odontogenic cysts, palmar or plantar pits, skeletal abnormalities, ectopic calcifications, facial dysmorphia, and a predisposition to other malignancies such as medulloblastomas, meningiomas, ovarian tumours, cardiac fibromas and fibrosarcomas. A germline mutation in the PTCH1 gene, located on chromosome 9q22-31, is responsible for NBCCS. No description exists of a consistent correlation between genotype and phenotype in patients with NBCCS; there is great variability in the clinical presentation, even within members of the same family with the same genetic mutation. Environmental exposure and other modifier genes may contribute to this variability. Therefore, different mutations of PTCH1 do not seem to offer prognostic information about age at onset of BCC, or the number of carcinomas that will develop. In conclusion, we present a previously undescribed spontaneous mutation in exon 15 of the PTCH1 gene in a girl with striking skin symptoms of multiple BCCs since birth. Future research will confirm or exclude the relationship between genotype and phenotype in patients with NBCCS.