title: [Congenital ichthyosiform erythrodermas: aspects of their etiology and pathogenesis].
abstract: The term "inherited ichthyosiform erythrodermia" (IIE) designates a heterogeneous group of inherited disturbances of keratinization. Lamellar ichthyosis (LI), inherited nonbullous ichthyosiform erythrodermia, bullous inherited ichthyosiform erythrodermia (BIIE) and some other conditions. Processes of terminal cell differentiation and epidermal keratinization are affected in all the above conditions. A decrease of transglutaminase activity is observed in L1, this being connected with mutations in chromosomes 14q, 2g33-35. In BIIE which is characterized by dense groups of tonofilaments in the suprabasal layer, mutations of keratin I and X coded by chromosomes 2 and 17 are identified. When sporadic forms of the disease occur, the main question is establishment of the genotype-phenotype correlation which depends on detailed characteristics of each patient and accurate study of the ultrastructural disturbances.
authors.affiliation: Central Research Dermatovenereological Institute, Moscow.
authors.forename: E K
authors.initials: EK
authors.lastname: Zakharova
authors.forename: A M
authors.initials: AM
authors.lastname: Vavilov
authors.forename: V N
authors.initials: VN
authors.lastname: Mordovtsev
mesh_terms: D002454:Cell Differentiation; D004817:Epidermis / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000209:etiology* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D017490:Ichthyosis, Lamellar / Q000209:etiology* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D007633:Keratins / Q000378:metabolism; D009626:Terminology as Topic
chemical_list: D007633:Keratins