Publication: Síndrome de Kindler: estudio clínico, bioquímico y genético. Modelo preclínico
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2020-02-21
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Universidad Complutense de Madrid
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Abstract
El Síndrome de Kindler (SK), es una genodermatosis rara, de herencia autosómica recesiva y prevalencia desconocida, que cuenta con 250 casos publicados hasta la fecha (Orphanet report series, 2019).Descrito por primera vez en 1954 por la Dra. Kindler, hasta el año 2003 no se identificó el gen implicado y paulatinamente se van conociendo los mecanismos moleculares que subyacen en la enfermedad. El SK se debe a distintas mutaciones en el gen Fermitin Family Member 1 (FERMT1), que codifica la proteína kindlina-1. Las características clínicas más frecuentes incluyen la presencia, en general desde el nacimiento, de ampollas en zonas acras, atrofia cutánea desde la infancia, fotosensibilidad, poiquilodermia progresiva y distintos grados de afectación mucocutánea...
Kindler's syndrome (KS) is a rare genodermatosis with an autosomal recessive inheritance and an unknown prevalence, with 250 cases published to date (Orphanet report series, 2019).First described in 1954 by Dr. Kindler, until 2003 the gene involved was not identified and gradually the molecular mechanisms underlying the disease are known. SK is due to different mutations in the Fermitin Family Member 1 gene (FERMT1), which encodes the kindlin-1 protein. The most frequent clinical characteristics include the presence, in general from birth, of blisters in acral areas, cutaneous atrophy since childhood, photosensitivity, progressive poikilodermia and different degrees of mucocutaneous involvement...
Kindler's syndrome (KS) is a rare genodermatosis with an autosomal recessive inheritance and an unknown prevalence, with 250 cases published to date (Orphanet report series, 2019).First described in 1954 by Dr. Kindler, until 2003 the gene involved was not identified and gradually the molecular mechanisms underlying the disease are known. SK is due to different mutations in the Fermitin Family Member 1 gene (FERMT1), which encodes the kindlin-1 protein. The most frequent clinical characteristics include the presence, in general from birth, of blisters in acral areas, cutaneous atrophy since childhood, photosensitivity, progressive poikilodermia and different degrees of mucocutaneous involvement...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Farmacología, leída el 26-11-2019