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dc.contributor.author | Martínez-Frías, María Luisa | |
dc.contributor.author | Bermejo-Sanchez, Eva | |
dc.contributor.author | López Grondona, Fermín | |
dc.contributor.author | Rodríguez-Pinilla, Elvira | |
dc.contributor.author | Mendioroz, J | |
dc.contributor.author | Cuevas Catalina, María Lourdes | |
dc.contributor.author | Barcia, JM | |
dc.contributor.author | Oliván del Cacho, MJ | |
dc.contributor.author | Espinosa, MJ | |
dc.contributor.author | Gómez, F | |
dc.contributor.author | Aparicio, P | |
dc.contributor.author | Félix, V | |
dc.contributor.author | García, A | |
dc.contributor.author | García, MJ | |
dc.contributor.author | Vázquez, MS | |
dc.contributor.author | Centeno, F | |
dc.contributor.author | García, MM | |
dc.contributor.author | Marco, JJ | |
dc.contributor.author | Galán, E | |
dc.contributor.author | Gómez, H | |
dc.contributor.author | Blanco, M | |
dc.contributor.author | López Soler, JA | |
dc.contributor.author | Paisán L | |
dc.date.accessioned | 2022-02-22T11:28:21Z | |
dc.date.available | 2022-02-22T11:28:21Z | |
dc.date.issued | 2004-10 | |
dc.identifier.citation | Boletín del ECEMC: Rev Dismor Epidemiol 2004; V (nº 3): 2-13 | es_ES |
dc.identifier.issn | 0210–3893 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/13698 | |
dc.description | Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC | es_ES |
dc.description.abstract | The Ichthyoses constitutes a large family of genetic skin diseases characterized by dry skin and variable degrees of blisters and scales. There are at least twenty varieties of ichthyosis, with a wide range of severity and associated symptoms, and genetic heterogeneity (autosomal dominant, autosomal recessive, and X-linked inheritance). The clinical symptoms, which are non-specific, may not be apparent. We have attempted to provide a classification of the ichthyoses and some guidance for the diagnosis and management of these conditions. The present classification is based in the type of alteration of the skin layer, the molecular findings, the biochemical characteristics, and the family history.There are three main categories, which include different subgroups of ichthyoses: 1) Those that are caused by an altered process of keratinocytic diferenciation (altered intermediate filaments/keratins). This category includes the following subgroups: a) Harlequin fetus; b) bullous erythroderma ichthyosiformis congenital; c) Ichthyosis bullosa of Siemens; d) Ichthyosis hystrix of Curth-Macklin; and e) Ichthyosis vulgaris. 2) Those that are caused by a deficient formation of the cornified envelope (transglutaminase 1 enzyme deficiency). In this category we include two main subgrups: a) Lamellar ichthyosis AR, which includes i) ichthyosis lamellar (IL1, IL2, IL3, IL4, and IL5), and ii) ichthyosiform erythroderma congenital nonbullous, and b) Nonlamellar ichthyosis and nonerythrodermic congenital ichthyosis AR. 3) Those caused by an abnormal steroid sulfatase (X-linked Ichtyosis). In spite of having only data at birth and the lack of molecular analysis, we attempted to classify the ECEMC cases according to this classification using available clinical data. We also calculated the frequency of this disease identified at birth, and provide some guidance for the clinical diagnosis, the management of the affected newborn, and the information that should be offered to the parents. | es_ES |
dc.language.iso | spa | es_ES |
dc.publisher | Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER) | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/4.0/ | * |
dc.subject | Dismorfología | es_ES |
dc.subject | Anomalías congénitas | es_ES |
dc.subject | Epidemiología | es_ES |
dc.subject | Ichthyosis | es_ES |
dc.subject | Collodion baby | es_ES |
dc.subject | Harlequin fetus | es_ES |
dc.subject | Frequency | es_ES |
dc.subject | Etiology | es_ES |
dc.title | Aspectos diagnósticos, etiológicos y genéticos de las ictiosis congénitas al nacimiento | es_ES |
dc.title.alternative | Diagnostic, etiologic, and genetic aspects of congenital ichthyoses at birth: Characteristics of the ECEMC cases | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Atribución-NoComercial-CompartirIgual 4.0 Internacional | * |
dc.format.volume | V | es_ES |
dc.format.number | 3 | es_ES |
dc.format.page | 2-13 | es_ES |
dc.description.peerreviewed | No | es_ES |
dc.identifier.journal | Boletín del ECEMC: Revista de Dismorfología y Epidemiología | es_ES |
dc.repisalud.centro | ISCIII | es_ES |
dc.repisalud.institucion | ISCIII | es_ES |
dc.rights.accessRights | open access | es_ES |