Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Gorlin's syndrome. Case report].

G Addessi1, A Del Vecchio, C Maggiore

  • 1Corso di Laurea in Odontoiatria e Protesi Dentaria, Cattedra di Patologia Speciale Odontostomatologica, Università degli Studi di Roma La Sapienza, Rome, Italy.

Minerva Stomatologica
|April 20, 2002
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Breast Density Histogram Analysis: The Role of Fat in Outcome Prediction After Whole Breast Radiation Therapy.

Practical radiation oncology·2025
Same author

Acute modulation of common synaptic inputs and motor unit discharge rates following neuromuscular electrical stimulation superimposed onto voluntary contractions.

Frontiers in physiology·2025
Same author

Neural determinants of the increase in muscle strength and force steadiness of the untrained limb following a 4 week unilateral training.

The Journal of physiology·2025
Same author

NeuroNella: Automatic identification of neural activity from multielectrode arrays with blind source separation.

Journal of neural engineering·2025
Same author

The role of body composition in neurological and hematologic toxicity in a retrospective analysis of 120 breast cancer patients undergoing neoadjuvant chemotherapy: the COMBOTOX study.

Breast cancer research and treatment·2024
Same author

Early regression index (ERI) on MR images as response predictor in esophageal cancer treated with neoadjuvant chemo-radiotherapy: Interim analysis of the prospective ESCAPE trial.

Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology·2024
Same journal

Dental materials implant alloys: a X-ray fluorescence analysis on FDS76®.

Minerva stomatologica·2021
Same journal

Maryland-bridge application as a suitable technique to preserve marginal bone level of not-submerged supracrestal implants.

Minerva stomatologica·2021
Same journal

Invisalign appliance: aesthetic and efficiency.

Minerva stomatologica·2021
Same journal

WITHDRAWN: Extranodal B-cell marginal zone lymphoma arising in the context of a lympho-epithelial cyst of the parotid gland in a patient with clonal B-cell lymphocytosis: report of the first case.

Minerva stomatologica·2020
Same journal

Comparison between four different implant surface debridement methods: an in-vitro experimental study.

Minerva stomatologica·2020
Same journal

Masticatory function improvement with the use of mandibular single-implant overdentures in edentulous subjects: a systematic literature review.

Minerva stomatologica·2020
See all related articles

This case study highlights nevoid basal cell carcinoma syndrome (NBCS), a rare genetic disorder. Early identification of its key features is crucial for timely diagnosis and familial screening.

Area of Science:

  • Dermatology
  • Genetics
  • Oral Medicine

Background:

  • Nevoid basal cell carcinoma syndrome (NBCS), also known as Gorlin's Syndrome, is a rare autosomal dominant disorder.
  • It is characterized by a spectrum of developmental abnormalities, including multiple basal cell carcinomas and odontogenic keratocysts.
  • Other potential manifestations include skeletal, sexual, and neurological abnormalities.

Observation:

  • A 75-year-old male with a history of multiple basal cell carcinomas presented with a suspected asymptomatic keratocyst.
  • Clinical examination revealed characteristic features such as cutaneous alterations of hands and feet (webbed digits), mild prognathism, and numerous nevi and basal cell carcinomas on the skin.
  • The oral cavity was clinically unremarkable.

Findings:

Related Experiment Videos

  • The patient's presentation, particularly the association of basal cell carcinomas with odontogenic keratocysts, strongly suggests a diagnosis of nevoid basal cell carcinoma syndrome.
  • Chromosomal abnormalities, potentially involving chromosomes 5 and 9, are implicated in the pathogenesis of NBCS.
  • The specific abnormalities on chromosome 9 share similarities with those induced by prolonged UV radiation exposure, suggesting a potential role in cutaneous carcinogenesis.

    • Implications:

    • The diagnosis of NBCS necessitates further family investigations to identify other affected individuals who may be undiagnosed.
    • Early recognition of juvenile basal cell carcinomas, especially when accompanied by odontogenic keratocysts, should prompt consideration of NBCS.
    • Understanding the genetic basis and clinical spectrum of NBCS is vital for comprehensive patient management and genetic counseling.