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11 Cards in this Set
- Front
- Back
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Howel-Evans Syndrome
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Inheritance
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Autosomal dominant; tylosis and oesophageal cancer (Toc) gene locus on 17q25
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Prenatal
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DNA linkage analysis in large kindred
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Incidence
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Rare; described in a few kindreds in United Kingdom, United States, and Germany; M=F
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Age at Presentation
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2nd decade to adulthood (keratoderma);
>3rd decade (esophageal ca) |
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Pathogenesis
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Mutation within the TOC gene locus on 1 7q distal to keratin 1 gene cluster plays a role in this condition as well as sporadic esophageal carcinomas; envolplakin is not the gene defect within the TOC locus
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Clinical
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Skin
Focal, weight bearing, symmetric, non transgrediens palmoplantar keratoderma Gastrointestinal Esophageal carcinoma Mouth Oral leukoplakia in one kindred |
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D/Dx
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PPK with esophageal carcinoma (acquired)
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Lab
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Endoscopy if PPK present with family history
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Management
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Referral to gastroenterologist periodic endoscopic evaluation, oral cavity examination
Referral to dermatologist topical therapy, oral retinoids Examination of family members |
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Prognosis
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Dependent upon early detection of carcinoma
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