Genetic Skin Disorders
This book provides a comprehensive survey which details the clinical abnormalities, histopathology (including both light and electron microscopy), biochemical and molecular information, treatment, mode of inheritance and recurrence risks, prenatal diagnosis, differential diagnosis, and support for inherited dermatologic disorders. Clinicians will find the text comprehensible and practical The author has succeeded in presenting the material in a language accessible to the non-geneticist. The appendix allows physicians to quickly find the correct diagnoses to consider. The listing of specific patient support groups will be welcomed by counselors and physicians 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 on the subject from journals and other sources readily available to practitioners. The volume is lavishly illustrated with over 500 color and some 200 black-and-white top-quality 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 synthesis of information on genetic diseases of the skin. Current hypotheses and classic assumptions are presented and assessed in the light of her own clinical experience. Any physician or genetic counselor faced with a patient in whom the potential for a genetic disorder of the skin exists will find this book a practical 7ool of immense interest.
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DISORDERS OF THE EPIDERMIS
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8923 New Fairfield Acad acanthosis affected individuals aplasia cutis congenita appear Arch ASSOCIATED ABNORMALITIES atrophy autosomal dominant autosomal recessive basal cell BASIC DEFECT Unknown biopsy blistering Bloom syndrome bullous cafe-au-lait spots carcinoma childhood chromosome Clin clinical collagen common cutaneous cutis laxa cysts dermal Dermatol DERMATOLOGIC FEATURES Major dermis described develop DIFFERENTIAL DIAGNOSIS disease disorder drome dystrophy ectodermal dysplasia edema epidermal epidermolysis bullosa erythroderma facial females Figure gene Genet hair Hereditary HISTOPATHOLOGY HISTOPATHOLOGY Light hyperkeratosis hyperpigmentation hypertrichosis hypoplasia ichthyosis incontinentia pigmenti infants INHERITANCE Autosomal dominant involvement keratin keratosis lesions lines of Blaschko literature males malformations malignant mental retardation mild Minor MODE OF INHERITANCE multiple mutations nevi nevus nevus syndrome nodules normal occur onset papules patients Pediatr pedigree pigment porphyria PRENATAL DIAGNOSIS recurrent reported scalp scarring SELECTED BIBLIOGRAPHY siblings skin changes Support Group telangiectasia thickened tion tissue TREATMENT tumors typical usually vascular verruciformis vitiligo Waardenburg syndrome X-linked