Genetic Testing and Personalized Medicine in Dermatology
The genetic basis of many dermatologic diseases is becoming increasingly apparent however its clinical application to an individual patient remains a challenge. This chapter aims to highlight the utility of genetic testing in the setting of screening, dia
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Genetic Testing and Personalized Medicine in Dermatology Rebecca Thiede and Daniel Butler
Abstract The genetic basis of many dermatologic diseases is becoming increasingly apparent however its clinical application to an individual patient remains a challenge. This chapter aims to highlight the utility of genetic testing in the setting of screening, diagnosing and counseling patients. Gardner’s syndrome, Peutz-Jeghers syndrome, Cowden syndrome, MEN Syndromes, Ataxia Telangiectasia, WiskottAldrich syndrome, Familial Mediterranean Fever are highlighted as examples of diseases with cutaneous findings where genetic knowledge can help guide clinical care. Keywords Gardner’s • Peutz-Jeghers • Cowden • MEN • Ataxia Telangiectasia • Wiskott-Aldrich • Familial Mediterranean Fever
Introduction The field of medical genetics helps elucidate the molecular basis of disease. In the last several decades this knowledge has also helped with the clinical management of patients and their loved ones. Genetic counseling, early testing strategies and therapeutic options are ways in which a knowledge of genetics has changed the practice of clinical medicine. The link between dermatology and genetics is well known and clinically applied. However, because of the nuances of many genetic diseases, it can be daunting for any clinician to recognize, diagnose and manage some of the most complex conditions. This chapter aims to help clinicians connect the known genetics of a disease to beneficial clinical practice.
R. Thiede, MD Department of Medicine, Santa Barbara Cottage Hospital, 55 Fruit Street, BH616, Boston, MA 02114, USA D. Butler, MD (*) Harvard Dermatology Department, Massachusetts General Hospital, 55 Fruit St, BH616, Boston, MA 02114, USA e-mail: [email protected] © Springer International Publishing Switzerland 2016 R.A. Norman (ed.), Personalized, Evolutionary, and Ecological Dermatology, DOI 10.1007/978-3-319-41088-3_1
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R. Thiede and D. Butler
Gardner’s Syndrome Gardner’s syndrome is a subset of familial adenomatous polyposis (FAP) with several prominent extraintestinal manifestations. Individuals inflicted with this syndrome develop hundreds to thousands of adenomatous colorectal polyps and have a 100 % lifetime risk for colorectal cancer, typically diagnosed by 40 years of age. Gastric, duodenal, periampullary, and small bowel polyps also can occur but have lower malignant potential. In this syndrome, there is also an increased risk for other tumors including desmoid, thyroid, hepatoblastoma, nasopharyngeal angiofibroma, pancreatic, and adrenal adenomas. Other extraintestinal findings include congenital hypertrophy of the retinal pigment epithelium (CHRPE), dental abnormalities, cutaneous lesions, osteomas, anemia, occult blood in stool, bowel obstruction, and weight loss [1]. The cutaneous lesions seen in this syndrome include epidermal cysts, fibromas, lipomas, and pilomatricomas [2, 3]. None of the cutaneous lesions have the potential to progress to malignancy, but they are important to identify since they can
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