title: [Genetics of hereditary cutaneous diseases associated with digestive tract involvement].
abstract: Most of cutaneous hereditary diseases are associated with digestive symptoms but only four groups have a predominated digestive symptomatology: I. Hereditary disease with intestinal polyposis. II. Vascular dysplasias with intestinal haemorrhage. III. Connective tissue discover in hereditary diseases. IV. Acrodermatitis enteropathica with diarrhoea. Though very different with one another, Peutz-Jeghers syndrome and Gardner's syndrome are transmitted according to autosomal dominant trait. Only bi- or unigenic origin is still controversed. Rendu-Osler's disease and blue rubber bled naevus also transmit according to autosomal dominant trait. Pseudoxanthoma elasticum is very likely transmitted according to autosomal recessivity. But the main forms of Ehlers-Danlos disease are autosomal dominant conditions, the other form being either autosomal recessive or sex-linked (type V). Acrodermatitis enteropathica is transmitted according to autosomal recessivity but the gene has a very variable penetrance so that the mutations are very common.
mesh_terms: D000169:Acrodermatitis / Q000235:genetics; D003240:Connective Tissue Diseases / Q000235:genetics; D004066:Digestive System Diseases / Q000150:complications / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D005260:Female; D005796:Genes; D006801:Humans; D007417:Intestinal Polyps / Q000235:genetics; D008297:Male; D010580:Peutz-Jeghers Syndrome / Q000235:genetics; D011561:Pseudoxanthoma Elasticum / Q000235:genetics; D012871:Skin Diseases / Q000150:complications / Q000235:genetics*
vernacular_title: Génétique des affections cutanées héréditaires associées a des lésions digestives.