Artículo
Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum
Irurzun, Inés; Natale, Mónica Inés; Agostinelli, María L.; Lamberti, Magdalena; Montero, Maria Dolores
; Granda, Cecilia María; Mássimo, José A.; Manzur, Graciela B.; Valinotto, Laura Elena
Fecha de publicación:
03/2021
Editorial:
Wiley Blackwell Publishing, Inc
Revista:
Pediatric Dermatology
ISSN:
0736-8046
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Palabras clave:
ALOPECIA
,
GENODERMATOSES
,
ICHTHYOSIS
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
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
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