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A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features.

ABSTRACT: Basal cell nevus syndrome (BCNS) is a rare, multisystem, autosomal dominant disorder that is characterized by various phenotypes, including multiple basal cell carcinomas of the skin, odontogenic keratocysts of the jaws, and occasionally cleft lip and/or palate. In this report, we describe a 6-year-old Japanese girl with a novel heterozygous nonsense mutation in PTCH1 who exhibited rare craniofacial phenotypes, such as oligodontia and a short-tooth root.

SUBMITTER: Murata Y

PROVIDER: S-EPMC6445144 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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A novel <i>PTCH1</i> mutation in basal cell nevus syndrome with rare craniofacial features.

Murata Yuka Y Kurosaka Hiroshi H Ohata Yasuhisa Y Aikawa Tomonao T Takahata Sosuke S Fujii Katsunori K Miyashita Toshiyuki T Morita Chisato C Inubushi Toshihiro T Kubota Takuo T Sakai Norio N Ozono Keiichi K Kogo Mikihiko M Yamashiro Takashi T

Human genome variation 20190402

Basal cell nevus syndrome (BCNS) is a rare, multisystem, autosomal dominant disorder that is characterized by various phenotypes, including multiple basal cell carcinomas of the skin, odontogenic keratocysts of the jaws, and occasionally cleft lip and/or palate. In this report, we describe a 6-year-old Japanese girl with a novel heterozygous nonsense mutation in <i>PTCH1</i> who exhibited rare craniofacial phenotypes, such as oligodontia and a short-tooth root. ...[more]

PMID: 30962945

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Project description:IntroductionNevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws and developmental defects. The disorder results from mutations in the PTCH1 gene.Case presentationA 15-year-old boy presented to our dental clinic with multiple jaw cysts. The patient had broad confluent eyebrows, a broad base of the nose, frontal bossing and palmoplantar pits. Examination of the jaw cysts revealed many keratinizing cysts without granular cell layers a finding that raised the suspicion of nevoid basal cell carcinoma. Radiological examinations showed calcification of the falx cerebri, spina bifida, bifid thoracic ribs and frontal bossing. Histopathological examination showed basaloid proliferation in the upper dermis with follicular differentiation surrounded by a loose mucinous stroma and retraction artifacts. These features make it difficult to differentiate between nevoid basal cell carcinoma and basaloid follicular hamartoma, especially the presence of these findings on a non-hairy area. BCL-2 staining was positive in the periphery of the basaloid proliferation, which is typical of basaloid follicular hamartoma, and not in a diffuse pattern, which is typical of nevoid basal cell carcinoma. The proband's siblings and parents were healthy with no family history of this condition in the extended family. Since histology was equivocal and palmoplantar pits are seen in both basaloid follicular hamartoma and nevoid basal cell carcinoma, molecular genetic investigation was necessary to differentiate between the two potential diagnoses. After sequencing the entire PTCH1 gene, we detected a single nucleotide deletion (c.1291delC) in codon 431 of the PTCH protein, which resulted in a premature stop translation at residue 431. This de novo mutation was not detected in both parents and in 100 normal volunteers of matching ethnicity.ConclusionScreening the PTCH1 gene for mutations helped to differentiate between basaloid follicular hamartoma and nevoid basal cell carcinoma and confirmed the diagnosis.

Dataset Information

A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features.

Publications

A novel <i>PTCH1</i> mutation in basal cell nevus syndrome with rare craniofacial features.

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