[Genetics of hereditary cutaneous diseases associated with digestive tract involvement]

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.