Dermatology online journal · 2018
A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome.
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Jenkins Lauren E, Abner Sabra, Schadt Courtney
Аннотация
BACKGROUND: It is important to better understand the role that environmental risk factors play on the development of esophageal cancer in Howel-Evans families. Additionally, there is little published about appropriate esophageal cancer screening practices in families genetically confirmed to have this condition.
METHODS: Surveys were distributed to 47 addresses of an American family with Howel-Evans syndrome, of which 29 responded and met inclusion criteria. Data was collected about demographics, environmental risk factors, and medical history of participants.
RESULTS: We report characteristics of family members with tylosis, rates of esophageal cancer, rates of genetic counseling, and levels of environmental risk factors. Of the survey respondents, 43% reported features of tylosis, 71.4% were male and 28.6% were female and 28.6% reported leukoplakia. Only 21.4% of tylotic family members smoked, 65% drank alcohol, and 28.6% drank well water. More than half (57.1%) of the tylotic individuals had never had an esophagogastroduodenoscopy (EGD) and no one had been diagnosed with esophageal carcinoma. Only 3.4% of respondents had ever received genetic testing for Howel-Evans syndrome, despite genetic confirmation of their relatives.
CONCLUSIONS: We encourage dermatologists to discuss smoking-cessation, genetic counseling, and early EGD with affected families.
METHODS: Surveys were distributed to 47 addresses of an American family with Howel-Evans syndrome, of which 29 responded and met inclusion criteria. Data was collected about demographics, environmental risk factors, and medical history of participants.
RESULTS: We report characteristics of family members with tylosis, rates of esophageal cancer, rates of genetic counseling, and levels of environmental risk factors. Of the survey respondents, 43% reported features of tylosis, 71.4% were male and 28.6% were female and 28.6% reported leukoplakia. Only 21.4% of tylotic family members smoked, 65% drank alcohol, and 28.6% drank well water. More than half (57.1%) of the tylotic individuals had never had an esophagogastroduodenoscopy (EGD) and no one had been diagnosed with esophageal carcinoma. Only 3.4% of respondents had ever received genetic testing for Howel-Evans syndrome, despite genetic confirmation of their relatives.
CONCLUSIONS: We encourage dermatologists to discuss smoking-cessation, genetic counseling, and early EGD with affected families.