Genetic Skin Disorders

This illustrated reference work on genetic skin diseases is designed for easy clinical use; each condition is described in terms of major and minor dermatologic features, associated clinical abnormalities, histopathology, biochemistry and molecular biology, treatment, mode of inheritance and recurrence risks, prenatal and differential diagnosis.

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A comprehensive survey of the subject, this scholarly work describes in full detail 327 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, with sections devoted to major and minor dermatologic features, associated clinical abnormalities, histopathology (including both light and electron microscopy), biochemical and molecular information, treatment, mode of inheritance and recurrence risks, prenatal diagnosis, differential diagnosis, support group listing, and annotated references. The appendix on Differential Diagnosis by Skin Sign is designed to allow both those familiar with dermatologic terminology and those who are not to quickly find the correct diagnoses to consider. The introductory chapter on practical inheritance clearly outlines the modes of inheritance responsible for the pathologic conditions and the associated recurrence risks. The author has succeeded in presenting the material in language accessible to the non-geneticist. The listing of specific patient support groups will be welcomed by clinicians who wish to provide such information to their patients.
The annotated bibliography for each entry is carefully selected to include the key reviews and pivotal papers from journals and other sources readily available to practitioners who wish to obtain more detailed information on a specific topic. The book is lavishly illustrated with both color and black-and-white photographs, many of which come from the author's private collection. Virginia Sybert's training and experience in both dermatology and medical genetics have been brought to bear in this volume-a lucid and critical synthesis of information on genetic diseases of the skin. Current hypotheses and classic assumptions are presented and assessed in light of her own clinical experience. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest.