Genetic Skin Disorders
This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential diagnosis. Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians. The book is lavishly illustrated with color photos to illustrate the conditions and conditions are grouped into categories reflecting the primary site of the major dermatologic features to aid the clinician encountering a condition for the first time. The material is well- written and presented in a highly engaging, reader-friendly voice which makes the content interesting and accessible to the geneticist and non-geneticist alike. This invaluable resource reflects the author's extensive clinical experience and expertise in genetics and dermatology that provides a clear and critical synthesis of information on the genetics of diseases affecting the skin. 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. The new edition reflects a decade of new research advances in our understanding of the molecular basis for these conditions. Major additions have been added for over 150 of the entries, including information on treatment advances and advances in the natural history of disorders. All references have been updated as well as support group information and website resources.
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11 METABOLIC DISEASE
12 PREMATURE AGING
14 IMMUNE DEFICIENCY DISEASES
Differential Diagnosis by Skin Sign
9 OTHER DISORDERS
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55 Kenosia Avenue 6673 voicemail acanthosis nigricans affected individuals allelic alopecia appear ASSOCIATED ABNORMALITIES autosomal dominant autosomal recessive biopsy blistering Box 1968 Danbury café-au-lait spots cells childhood Clin clinical collagen congenital cutaneous cutis laxa dermal Dermatol DERMATOLOGIC FEATURES MAJOR described develop DIFFERENTIAL DIAGNOSIS disease Disorders 55 Kenosia drome due to mutations dystrophy E-mail ectodermal dysplasia epidermal epidermolysis bullosa facial Figure gene Genet hair Hereditary HISTOPATHOLOGY HISTOPATHOLOGY LIGHT hyperkeratosis hyperpigmentation hypertrichosis ichthyosis incontinentia pigmenti infants INHERITANCE Autosomal dominant involvement keratin lesions lines of Blaschko males malformations malignancy mental retardation MODE OF INHERITANCE molecular multiple mutations nail nevi nevus normal occur onset Organization for Rare firstname.lastname@example.org Website papules patients Pediatr pedigree Phone pigment porphyria PRENATAL DIAGNOSIS protein Proteus syndrome Rare Disorders 55 recurrent reported scalp scarring siblings skin changes Support Group syndrome TDD Number telangiectasia thickened tion tissue Tollfree TREATMENT tumors typical usually vascular www.rarediseases.org SELECTED BIBLIOGRAPHY X-linked