Biomaterial Database

[Genetics of hereditary cutaneous diseases associated with digestive tract involvement]. 1979

F Desmons, and R Walbaum

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.

UI	MeSH Term	Description	Entries
D007417	Intestinal Polyps	Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.	Intestinal Polyp,Polyp, Intestinal,Polyps, Intestinal
D008297	Male		Males
D010580	Peutz-Jeghers Syndrome	A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.	Lentiginosis, Perioral,Periorificial Lentiginosis Syndrome,Peutz-Jegher's Syndrome,Peutz-Jeghers Polyposis,Polyposis, Hamartomatous Intestinal,Polyps-and-Spots Syndrome,Hamartomatous Intestinal Polyposes,Hamartomatous Intestinal Polyposis,Intestinal Polyposes, Hamartomatous,Intestinal Polyposis, Hamartomatous,Lentiginoses, Perioral,Perioral Lentiginoses,Perioral Lentiginosis,Periorificial Lentiginosis Syndromes,Peutz Jegher's Syndrome,Peutz Jeghers Polyposis,Peutz Jeghers Syndrome,Peutz-Jegher Syndrome,Polyposes, Hamartomatous Intestinal,Polyposis, Peutz-Jeghers,Polyps and Spots Syndrome,Polyps-and-Spots Syndromes,Syndrome, Periorificial Lentiginosis,Syndrome, Peutz-Jegher's,Syndrome, Peutz-Jeghers,Syndrome, Polyps-and-Spots,Syndromes, Periorificial Lentiginosis,Syndromes, Polyps-and-Spots
D011561	Pseudoxanthoma Elasticum	An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.	Gronblad-Strandberg Syndrome,Groenblad-Strandberg Syndrome,Pseudoxanthoma Elasticum, Autosomal Dominant,Pseudoxanthoma Elasticum, Forme Fruste,Pseudoxanthoma Elasticum, Incomplete,Elasticum, Incomplete Pseudoxanthoma,Elasticums, Incomplete Pseudoxanthoma,Gronblad Strandberg Syndrome,Incomplete Pseudoxanthoma Elasticum,Incomplete Pseudoxanthoma Elasticums,Pseudoxanthoma Elasticums, Incomplete,Syndrome, Gronblad-Strandberg
D003240	Connective Tissue Diseases	A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.	Connective Tissue Disease,Disease, Connective Tissue,Diseases, Connective Tissue
D004066	Digestive System Diseases	Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).	Digestive System Disorders,Hepatobiliary Diseases,Hepatobiliary Disorders,Digestive System Disease,Digestive System Disorder,Hepatobiliary Disease,Hepatobiliary Disorder,System Disorders, Digestive
D004535	Ehlers-Danlos Syndrome	A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.	Cutis Elastica,Ehlers Danlos Disease,Ehlers-Danlos Disease,Danlos Disease, Ehlers,Disease, Ehlers Danlos,Disease, Ehlers-Danlos,Ehlers Danlos Syndrome,Syndrome, Ehlers-Danlos
D005260	Female		Females
D005796	Genes	A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.	Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man