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

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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

Summary

This summary is machine-generated.

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.

Keywords:

Basal cell carcinoma Gorlin syndrome Nevoid basal cell carcinoma syndrome PTCH gene

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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.