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oai:repisalud.isciii.es:20.500.12105/136982025-03-12T14:39:51Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5613

00925njm 22002777a 4500 dc Martínez-Frías, María Luisa author Bermejo-Sanchez, Eva author López Grondona, Fermín author Rodríguez-Pinilla, Elvira author Mendioroz, J author Cuevas Catalina, María Lourdes author Barcia, JM author Oliván del Cacho, MJ author Espinosa, MJ author Gómez, F author Aparicio, P author Félix, V author García, A author García, MJ author Vázquez, MS author Centeno, F author García, MM author Marco, JJ author Galán, E author Gómez, H author Blanco, M author López Soler, JA author Paisán L author 2004-10 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. Boletín del ECEMC: Rev Dismor Epidemiol 2004; V (nº 3): 2-13 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/13698 Dismorfología Anomalías congénitas Epidemiología Ichthyosis Collodion baby Harlequin fetus Frequency Etiology Aspectos diagnósticos, etiológicos y genéticos de las ictiosis congénitas al nacimiento