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

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dc.affiliation.dptoUC3M. Departamento de Bioingenieríaes
dc.affiliation.grupoinvUC3M. Grupo de Investigación: Tissue Engineering and Regenerative Medicine (TERMeG)es
dc.contributor.authorEcheverría García, Begoña
dc.contributor.authorVicente, Asunción
dc.contributor.authorHernández, Ángela
dc.contributor.authorMascaró, José M.
dc.contributor.authorColmenero, Isabel
dc.contributor.authorTerrón, Ana
dc.contributor.authorEscámez Toledano, María José
dc.contributor.authorRío Nechaevsky, Marcela del
dc.contributor.authorGonzález Enseñat, María A.
dc.contributor.authorTorrelo Fernández, Antonio
dc.date.accessioned2014-05-27T13:00:01Z
dc.date.available2014-11-01T23:00:06Z
dc.date.issued2013-11
dc.description.abstractEpidermolysis 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.en
dc.format.extent7es
dc.format.mimetypeapplication/pdf
dc.identifier.bibliographicCitationPediatric dermatology, Vol. 30, nº 6 (Nov./Dec. 2013), pp. 125-131es
dc.identifier.doi10.1111/j.1525-1470.2012.01748.x
dc.identifier.issn0736-8046
dc.identifier.publicationfirstpage125es
dc.identifier.publicationissue6es
dc.identifier.publicationlastpage131es
dc.identifier.publicationtitlePediatric dermatologyes
dc.identifier.publicationvolume30es
dc.identifier.urihttps://hdl.handle.net/10016/18916
dc.identifier.uxxiAR/0000012145
dc.language.isoengen
dc.publisherWiley Periodicals Incen
dc.relation.projectIDComunidad de Madrid. S2010/BMD-2420/CELLCAMes
dc.relation.publisherversionhttp://dx.doi.org/10.1111/j.1525-1470.2012.01748.xes
dc.rights© 2012 Wiley Periodicals Inc.en
dc.rights.accessRightsopen accesses
dc.subject.ecienciaMedicinaes
dc.subject.otherPigmentation Disorders, Epidermolysis Bullosa Simplex, Pigmentation Disordersen
dc.titleEpidermolysis bullosa simplex with mottled pigmentation: a family report and reviewen
dc.typeresearch article*
dc.type.hasVersionAM*
dspace.entity.typePublication
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