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Familial basal cell nevus syndrome

R Lorenz, W Fuhrmann

    Human Genetics
    |October 31, 1978
    PubMed
    Summary

    Basal cell nevus syndrome, a genetic disorder, presents with multiple nevi and other anomalies. This study confirms its autosomal dominant inheritance pattern with variable expressivity in a German family.

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    Area of Science:

    • Genetics
    • Dermatology
    • Medical Syndromes

    Background:

    • Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder.
    • It is characterized by a spectrum of developmental abnormalities, including multiple basal cell nevi, jaw cysts, and skeletal anomalies.

    Observation:

    • A German family with four affected members (mother and three daughters) presented with manifestations of Basal Cell Nevus Syndrome.
    • Clinical examination revealed variable expressivity of the syndrome's features, influenced by age.

    Findings:

    • The observed family data strongly support an autosomal dominant mode of inheritance for Basal Cell Nevus Syndrome.
    • High penetrance of the causative gene was noted within the studied family.

    Implications:

    • Understanding the variable expressivity of BCNS is crucial for accurate diagnosis and management.
    • Genetic counseling for families with suspected or confirmed Basal Cell Nevus Syndrome should consider the high penetrance and variable presentation.

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