Epidermolysis bullosa simplex with mottled pigmentation: a family report and review

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dc.contributor.author Echeverría García, Begoña
dc.contributor.author Vicente, Asunción
dc.contributor.author Hernández, Ángela
dc.contributor.author Mascaró, José M.
dc.contributor.author Colmenero, Isabel
dc.contributor.author Terrón, Ana
dc.contributor.author Escámez Toledano, María José
dc.contributor.author Río Nechaevsky, Marcela del
dc.contributor.author González Enseñat, María A.
dc.contributor.author Torrelo Fernández, Antonio
dc.date.accessioned 2014-05-27T13:00:01Z
dc.date.available 2014-11-01T23:00:06Z
dc.date.issued 2013-11
dc.identifier.bibliographicCitation Pediatric dermatology, Vol. 30, nº 6 (Nov./Dec. 2013), pp. 125-131
dc.identifier.issn 0736-8046
dc.identifier.uri http://hdl.handle.net/10016/18916
dc.description.abstract Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families each with several affected members with EBS-MP and review the clinical and genetic findings in all reported patients. We highlight the changing clinical features of the disease throughout life.
dc.format.extent 7
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Wiley Periodicals Inc
dc.rights © 2012 Wiley Periodicals Inc.
dc.subject.other Pigmentation Disorders, Epidermolysis Bullosa Simplex, Pigmentation Disorders
dc.title Epidermolysis bullosa simplex with mottled pigmentation: a family report and review
dc.type article
dc.relation.publisherversion http://dx.doi.org/10.1111/j.1525-1470.2012.01748.x
dc.subject.eciencia Medicina
dc.identifier.doi 10.1111/j.1525-1470.2012.01748.x
dc.rights.accessRights openAccess
dc.relation.projectID Comunidad de Madrid. S2010/BMD-2420/CELLCAM
dc.type.version acceptedVersion
dc.identifier.publicationfirstpage 125
dc.identifier.publicationissue 6
dc.identifier.publicationlastpage 131
dc.identifier.publicationtitle Pediatric dermatology
dc.identifier.publicationvolume 30
dc.identifier.uxxi AR/0000012145
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