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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Gorlin-goltz syndrome: a rare case.

Satyaki Ganguly1, Kranti C Jaykar2, Rajesh Kumar3

  • 1Department of Dermatology, Venereology and Leprosy, Pondicherry Institute of Medical Sciences, Pondicherry, Puducherry, India.

Indian Journal of Dermatology
|March 28, 2015
PubMed
Summary

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, presents with multiple skin tumors and cysts. Early diagnosis and thorough examination are crucial for managing this rare genetic disorder.

Keywords:
Gorlin syndromeGorlin-Goltz syndromenevoid basal cell carcinoma syndromepalmar pits

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Area of Science:

  • Genetics
  • Dermatology
  • Oncology

Background:

  • Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome) is a rare genetic disorder.
  • It is characterized by multiple basal cell carcinomas, jaw keratocysts, skeletal abnormalities, and ectopic calcifications.

Purpose of the Study:

  • To describe a case of Gorlin-Goltz syndrome.
  • To emphasize the importance of comprehensive patient evaluation, including palm and sole examination and detailed investigations.

Main Methods:

  • Case report presentation.
  • Clinical examination focusing on characteristic features of Gorlin-Goltz syndrome.
  • Diagnostic investigations.

Main Results:

  • A patient presented with features suggestive of Gorlin-Goltz syndrome, including basal cell carcinoma and multiple nevi.
  • The case highlights the diagnostic utility of examining palms and soles for characteristic pits.

Conclusions:

  • Thorough clinical examination and detailed investigations are essential for diagnosing Gorlin-Goltz syndrome.
  • Early identification facilitates timely management and monitoring of associated complications.