Gorlin Goltz Syndrome: Beware of Melanoma

Russo, Filomena; Liso, Flavio Giulio; Santi, Francesco; Provvidenziale, Luca; Taddeucci, Paolo; Rubegni, Pietro

doi:10.5826/dpc.1201a38

Cited by 3 publications

(2 citation statements)

References 2 publications

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“…Gorlin Goltz syndrome or Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant hereditary condition, with high penetrance, variable expressivity, and a wide range of developmental abnormalities and predispositions to postnatal tumors [1][2][3] . It was first mentioned in 1894 by Jarish and White, who highlighted the various basal cell carcinomas identified, and later detailed by Gorlin and Goltz in 1960, who established in more detail the varied phenotypic expressions that characterize the disease 4,5 .…”

Section: Introductionmentioning

confidence: 99%

“…It was first mentioned in 1894 by Jarish and White, who highlighted the various basal cell carcinomas identified, and later detailed by Gorlin and Goltz in 1960, who established in more detail the varied phenotypic expressions that characterize the disease 4,5 . The syndrome arises from the mutation of the PTCH1 gene, mapped on chromosome 9q22.3-q31, and involved in the sonic hedhehog (SHH) molecular pathway, directly involved in the action of embryonic cells in determining the correct development of the embryo, in tissue repair and in carcinogenesis [2][3][4]6,7 .…”

Section: Introductionmentioning

confidence: 99%

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Extensive mandibular multiloculation in a patient with Nevoid Basal Cell Carcinoma Syndrome

Jesuino¹,

Ballesteros²,

Silva³

et al. 2023

J Oral Diag

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Gorlin Goltz Syndrome, or Nevoid Basal Cell Carcinoma Syndrome, is an autosomal dominant genetic disease characterized especially by the manifestation of basal cell carcinomas in the skin and keratocysts in the jaws. Additionally, patients may present with several other manifestations, such as bifid ribs, hypertelorism and calcification of the falx cerebri. The diagnosis has physicians and dentists as protagonists in the investigation and involves a good anamnesis associated with a detailed physical examination, imaging, anatomical and histopathological exams and, if possible, the identification of the PTCH1 gene, which covers approximately 85% of patients. The present study aims to present an up-to-date integrative literary review of the Gorlin Goltz Syndrome, highlighting the care and management of the case of a syndromic patient treated at a stomatology clinic, carrying a series of major and minor findings of the disease.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Extensive mandibular multiloculation in a patient with Nevoid Basal Cell Carcinoma Syndrome

Jesuino¹,

Ballesteros²,

Silva³

et al. 2023

J Oral Diag

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Radiological evaluation of odontogenic keratocysts in patients with nevoid basal cell carcinoma syndrome: A review

Ünsal,

Cicciù,

Ayman Ahmad Saleh

et al. 2023

The Saudi Dental Journal

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Germline mutations predisposing to melanoma and associated malignancies and syndromes: a narrative review

López Riquelme,

Martínez García,

Serrano Ordónez

et al. 2024

Int J Dermatology

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The pathogenesis of melanoma is influenced by a complex combination of environmental factors and individual genetic susceptibility. Familial melanoma refers to cases where there are two first‐degree relatives with a melanoma diagnosis. Less strict definitions include second‐degree relatives or even three or more of any degree from the same family, although this is not clearly defined in the literature. The term hereditary melanoma is reserved for sporadic or familial melanomas linked to high‐risk genes with high penetrance. The first genes related to melanoma were CDKN2A and CDK4, but recently, other genes, mostly tumor suppressor genes, have been described. Internal malignancies, particularly pancreatic cancer, have also been associated with melanoma. Recent studies suggest that there could be a link between melanoma and other neoplasms and tumor predisposition syndromes. This review presents an updated overview of familial melanoma criteria and genes involved in melanoma pathogenesis, emphasizing their clinicopathological aspects and other associated malignancies.

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Gorlin Goltz Syndrome: Beware of Melanoma

Cited by 3 publications

References 2 publications

Extensive mandibular multiloculation in a patient with Nevoid Basal Cell Carcinoma Syndrome

Extensive mandibular multiloculation in a patient with Nevoid Basal Cell Carcinoma Syndrome

Radiological evaluation of odontogenic keratocysts in patients with nevoid basal cell carcinoma syndrome: A review

Germline mutations predisposing to melanoma and associated malignancies and syndromes: a narrative review

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