Much progress has been made in recent years in the identification of genes underlying many hereditary skin diseases.
Objective:
To provide an update on the status of the identification of genes involved in hereditary skin disorders and to compare the current standing with that in the last decade.
Methods:
A review of the literature is presented here in a series of lists describing the chromosomal location, specific gene, clinical relevance, and availability of molecular-based genetic tests for each genodermatosis.
Results:
Progress has been made in identifying the genes underlying many disorders of cornification, genodermatoses with malignant potential, bullous disorders, pigmentary disorders, disorders affecting the epidermal appendages and the dermis, and other miscellaneous genodermatoses.
Conclusion:
The great progress made toward the completion of the human gene sequence and the continued efforts of many clinical and molecular scientists to identify disease genes will make diagnosis of hereditary dermatological disorders more precise and allow accurate family counseling as well as possibly leading to more targeted therapies during this millennium.
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