Related Experiment Video

Updated: May 10, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Gorlin syndrome

Basanti Devi1, Binodini Behera, Sibasish Patro

  • 1Department of Skin and VD, SCB Medical College, Cuttack, Odisha, India.

Indian Journal of Dermatology
|June 1, 2013
PubMed

Insights

Gorlin Syndrome, also known as Nevoid basal cell carcinoma syndrome (NBCCS), is a rare genodermatosis affecting multiple body systems. This report details a classical case, highlighting its characteristic features.

Area of Science:

  • Genetics and rare diseases
  • Dermatology
  • Syndromology

Background:

  • Gorlin Syndrome, or Nevoid basal cell carcinoma syndrome (NBCCS), is a rare genodermatosis.
  • It is a multisystem disorder impacting skin, nervous system, eyes, endocrine glands, and bones.
  • Key features include basal cell carcinomas, jaw cysts, and skeletal abnormalities.

Purpose of the Study:

  • To report a case of Gorlin Syndrome with classical clinical manifestations.
  • To contribute to the understanding of this rare genodermatosis.

Main Methods:

  • Case report presentation.
  • Clinical description of a patient with Gorlin Syndrome.

Main Results:

  • The reported case exhibits classical features of Gorlin Syndrome.
  • The patient presented with characteristic skin, jaw, and bone abnormalities.

Conclusions:

  • Gorlin Syndrome is a rare genodermatosis with diverse systemic effects.
  • Recognition of classical features is crucial for diagnosis and management of NBCCS.
Keywords:
Basal cell carcinomaGorlin syndromeNevoid basal cell carcinoma syndromePTCH gene

More Related Videos

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin07:56

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin

Published on: January 17, 2012

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...