Genetic Disorder of the Skin

Featuring over 300 full-color illustrations and a unique format designed to aid in retaining information, this user-friendly guide to genetic skin disorders is ideal for board preparation and clinical reference for dermatologists, pediatricians, or any practitioner interested in this area. Each syndrome is presented on a two-page spread. Full body diagrams and clinical photographs appear on one page. Bulleted text on the facing page summarizes patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis. Boxed clinical pearls from invited experts are also included. All information has been updated for this edition, including new syndromes and illustrations.

Genetic disorder - A genetic disorder, or genetic disease is a disease caused by abnormal expression of one or more genes in a person causing a clinical phenotype. There are a number of possible causes for genetic defects:

Compulsive skin picking - Compulsive skin picking (CSP) is a nervous disorder characterized by the repeated urge to pick at one's own skin, often to the extent that damage is caused. The disorder is known by many other names: dermatillomania, chronic skin picking, neurotic excoriation and acne excoriee.

Genetic counseling - Genetic counseling is the process by which patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or ameliorate it. This complex process can be seen from diagnostic (the actual estimation of risk) and supportive aspects.

Costello syndrome - Costello syndrome is a genetic disorder that affects many parts of the body. This condition is characterized by delayed development and mental retardation, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints.

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Health Disease and Condition Genetic Disorder - Health Disease and Condition Genetic Disorder Genetic disorder - A genetic disorder, or genetic disease is a disease caused by abnormal expression of one or more genes in a person causing a clinical phenotype. There are a number of possible causes for genetic defects: Glycogen storage disease type II - Glycogen storage disease type II (also called Pompe disease or acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to ...

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