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dc.contributor.author
Irurzun, Inés
dc.contributor.author
Natale, Mónica Inés
dc.contributor.author
Agostinelli, María L.
dc.contributor.author
Lamberti, Magdalena
dc.contributor.author
Montero, Maria Dolores
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Granda, Cecilia María
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Mássimo, José A.
dc.contributor.author
Manzur, Graciela B.
dc.contributor.author
Valinotto, Laura Elena
dc.date.available
2022-08-10T16:56:09Z
dc.date.issued
2021-03
dc.identifier.citation
Irurzun, Inés; Natale, Mónica Inés; Agostinelli, María L.; Lamberti, Magdalena; Montero, Maria Dolores; et al.; Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum; Wiley Blackwell Publishing, Inc; Pediatric Dermatology; 38; 3; 3-2021; 568-574
dc.identifier.issn
0736-8046
dc.identifier.uri
http://hdl.handle.net/11336/165013
dc.description.abstract
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). Clinical presentation includes ichthyosis follicularis, alopecia, photophobia and developmental delay. Hereditary mucoepithelial dysplasia (HMD) is a dominantly inherited disease characterized by keratitis, non-scarring alopecia, skin lesions including follicular keratosis, perineal erythema, and mucosal involvement. Recently, variants in SREBF1, a gene coding for a transcription factor related to cholesterol and fatty acid synthesis, have been associated with the disease. These two syndromes share a common clinical spectrum. Here, we describe an IFAP syndrome patient with a novel variant in the MBTPS2 gene and an HMD patient with a previously reported variant in the SREBF1 gene. In addition, we present a review of the literature describing the triad characterized by non-scarring alopecia, keratosis follicularis, and ocular symptoms common in both IFAP and HMD patients to raise awareness of these underdiagnosed diseases. We also highlight the subtle differences in clinical presentation between the two disorders to better enable differentiation.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley Blackwell Publishing, Inc
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
ALOPECIA
dc.subject
GENODERMATOSES
dc.subject
ICHTHYOSIS
dc.subject.classification
Tecnologías que involucran la identificación de ADN, proteínas y enzimas, y cómo influyen en el conjunto de enfermedades y mantenimiento del bienestar
dc.subject.classification
Biotecnología de la Salud
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2022-08-09T17:45:20Z
dc.journal.volume
38
dc.journal.number
3
dc.journal.pagination
568-574
dc.journal.pais
Reino Unido
dc.journal.ciudad
Londres
dc.description.fil
Fil: Irurzun, Inés. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina
dc.description.fil
Fil: Natale, Mónica Inés. Universidad de Buenos Aires; Argentina
dc.description.fil
Fil: Agostinelli, María L.. No especifíca;
dc.description.fil
Fil: Lamberti, Magdalena. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina
dc.description.fil
Fil: Montero, Maria Dolores. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Granda, Cecilia María. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina
dc.description.fil
Fil: Mássimo, José A.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina
dc.description.fil
Fil: Manzur, Graciela B.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina. Universidad de Buenos Aires; Argentina
dc.description.fil
Fil: Valinotto, Laura Elena. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.journal.title
Pediatric Dermatology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1111/pde.14560
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