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Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.
Irurzun I, Natale MI, Agostinelli ML, Lamberti M, Montero D, Granda C, Mássimo JA, Manzur GB, Valinotto LE. Irurzun I, et al. Pediatr Dermatol. 2021 May;38(3):568-574. doi: 10.1111/pde.14560. Epub 2021 Mar 19. Pediatr Dermatol. 2021. PMID: 33742461 Review.
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, …
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in t …
Hereditary mucoepithelial dysplasia. Case report and review of the literature.
Scheman AJ, Ray DJ, Witkop CJ Jr, Dahl MV. Scheman AJ, et al. J Am Acad Dermatol. 1989 Aug;21(2 Pt 2):351-7. J Am Acad Dermatol. 1989. PMID: 2666466 Review.
Hereditary mucoepithelial dysplasia, a dyshesive, dyskeratotic epithelial syndrome caused by an abnormality in desmosomes and gap junctions, involves the mucosae, skin, hair, eyes, and lungs. ...The patient described in this report represents an appare …
Hereditary mucoepithelial dysplasia, a dyshesive, dyskeratotic epithelial syndrome caused by an abnormality in d …
Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review.
Boralevi F, Haftek M, Vabres P, Lepreux S, Goizet C, Leaute-Labreze C, Taieb A. Boralevi F, et al. Br J Dermatol. 2005 Aug;153(2):310-8. doi: 10.1111/j.1365-2133.2005.06664.x. Br J Dermatol. 2005. PMID: 16086741 Review.
BACKGROUND: Hereditary mucoepithelial dysplasia is a dominantly inherited disease, mainly characterized by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and perineal intertrigo. ...Genetic analysis in the studied …
BACKGROUND: Hereditary mucoepithelial dysplasia is a dominantly inherited disease, mainly characterized by chronic muco …
Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions.
Leithauser LA, Mutasim DF. Leithauser LA, et al. J Cutan Pathol. 2012 Apr;39(4):431-9. doi: 10.1111/j.1600-0560.2011.01857.x. Epub 2012 Feb 16. J Cutan Pathol. 2012. PMID: 22443394 Review.
Hereditary mucoepithelial dysplasia (HMD) is a rare, autosomal dominantly inherited, multisystem disease thought to be caused by abnormalities in desmosomes and gap junctions. ...
Hereditary mucoepithelial dysplasia (HMD) is a rare, autosomal dominantly inherited, multisystem disease thought to be …
Alveolar epithelial disintegrity in pulmonary fibrosis.
Kulkarni T, de Andrade J, Zhou Y, Luckhardt T, Thannickal VJ. Kulkarni T, et al. Am J Physiol Lung Cell Mol Physiol. 2016 Aug 1;311(2):L185-91. doi: 10.1152/ajplung.00115.2016. Epub 2016 May 27. Am J Physiol Lung Cell Mol Physiol. 2016. PMID: 27233996 Free PMC article. Review.
However, the potential links between extrapulmonary clinical syndromes associated with defects in epithelial cells and the development of pulmonary fibrosis are not well understood. Here, we report a case of hereditary mucoepithelial dysplasia that presented …
However, the potential links between extrapulmonary clinical syndromes associated with defects in epithelial cells and the development of pu …