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[Case of Gorlin syndrome].

J D González Bahillo, M P Varela Patiño, L Gómez Segade

    Avances En Odontoestomatologia
    |October 1, 1989
    PubMed
    Summary

    This case study details Gorlin's syndrome, initially presenting as an odontogenic keratocyst. The patient exhibited multiple keratocysts and skeletal abnormalities, highlighting the syndrome's diverse manifestations.

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    Area of Science:

    • Oral and Maxillofacial Surgery
    • Clinical Genetics
    • Dermatology

    Background:

    • Gorlin's syndrome (Nevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant disorder.
    • It is characterized by a wide spectrum of developmental abnormalities.
    • Early diagnosis is crucial for managing associated risks.

    Observation:

    • A patient initially diagnosed with a large odontogenic keratocyst.
    • Subsequent analysis revealed multiple keratocysts in the maxilla and mandible.
    • Additional findings included lumbar scoliosis, rib malformations, brain calcification, and ovarian follicles.

    Findings:

    • The patient presented with multiple odontogenic keratocysts, a hallmark of Gorlin's syndrome.
    • Skeletal anomalies such as scoliosis and rib defects were observed.
    • Neurological and gynecological findings were also noted, expanding the clinical picture.

    Implications:

    • This case underscores the importance of comprehensive evaluation for Gorlin's syndrome beyond initial dental findings.
    • Recognizing the varied clinical presentations aids in timely diagnosis and management.
    • Further investigation into the potential development of nevoid basal cell carcinomas is warranted.

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