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Gorlin's syndrome: diffuse appendicular skeletal involvement with scintigraphic correlation.

Justin Q Ly1, Douglas P Beall

  • 1Department of Radiology and Nuclear Medicine, Wilford Hall Medical Center, San Antonio, Texas, USA. jly15544@hotmail.com

Australasian Radiology
|August 2, 2003
PubMed
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Gorlin's syndrome, a rare inherited disorder, presents with multiple basal cell carcinomas and skeletal abnormalities. This case highlights unusual radiological findings in a patient diagnosed with this condition.

Area of Science:

  • Genetics and rare diseases
  • Dermatology
  • Radiology

Background:

  • Gorlin's syndrome (basal cell nevus syndrome) is an inherited disorder with characteristic features including multiple basal cell carcinomas and skeletal abnormalities.
  • Diagnosis is typically based on a combination of clinical and radiological findings.
  • Fibrous dysplasia is a bone disorder that can sometimes be mistaken for other skeletal abnormalities.

Observation:

  • A 45-year-old woman initially diagnosed with fibrous dysplasia of the extremity was found to have a diffuse skeletal process.
  • Extensive radiological work-up revealed skeletal abnormalities consistent with Gorlin's syndrome.
  • The patient had a history of multiple basal cell carcinomas.

Findings:

  • The case presented unusual and striking radiological and scintigraphic findings.

Related Experiment Videos

  • The combination of skeletal abnormalities and a history of basal cell carcinomas confirmed the diagnosis of Gorlin's syndrome.
  • This case underscores the importance of comprehensive evaluation in diagnosing rare genetic disorders.

    • Implications:

    • This case expands the understanding of radiological manifestations in Gorlin's syndrome.
    • Accurate and timely diagnosis of Gorlin's syndrome is crucial for patient management and genetic counseling.
    • Highlighting unusual presentations aids in the differential diagnosis of skeletal abnormalities and skin cancers.