ichthyosis, lamellar, 1

A genetically distinct, autosomal recessive condition (OMIM:242300) that is clinically similar to other lamellar ichthyoses, which are characterised by abnormal epidermal cornification. These patients are born encased in a tight, shiny, translucent covering or collodion membrane, which, over the first weeks of life, is gradually replaced by large, dark-brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp, often accompanied by severe heat intolerance and recurrent ear infections.
Molecular pathology
Defects of TGM1, which encodes a transglutaminase, cause lamellar ichthyosis type 1.

单词	ichthyosis, lamellar, 1
释义	ichthyosis, lamellar, 1 ichthyosis, lamellar, 1 A genetically distinct, autosomal recessive condition (OMIM:242300) that is clinically similar to other lamellar ichthyoses, which are characterised by abnormal epidermal cornification. These patients are born encased in a tight, shiny, translucent covering or collodion membrane, which, over the first weeks of life, is gradually replaced by large, dark-brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp, often accompanied by severe heat intolerance and recurrent ear infections. Molecular pathology Defects of TGM1, which encodes a transglutaminase, cause lamellar ichthyosis type 1.
随便看	gamma-glutamyl hydrolase gamma glutamyl transferase gamma-glutamyl transferase gamma-glutamyltransferase gamma glutamyl transferase (ggt) gamma-glutamyltransferase test gamma glutamyl transpeptidase gamma-glutamyl transpeptidase gamma-glutamyltranspeptidase gamma-glutamyl transpeptidase test gamma-glu-x carboxypeptidase gammagram gammagraphic gammagraphy gamma hch gamma heating gamma heavy chain disease gamma-heavy-chain disease gamma hemolysis gammaherpesvirinae gamma-hexachlorocyclohexane gamma hydroxibutylate gamma hydroxy butyrate gamma hydroxybutyrate gamma-hydroxy butyrate