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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). ...Recently, variants in SREBF1, a gene c …
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic varian …
MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.
Caengprasath N, Theerapanon T, Porntaveetus T, Shotelersuk V. Caengprasath N, et al. J Transl Med. 2021 Mar 20;19(1):114. doi: 10.1186/s12967-021-02779-5. J Transl Med. 2021. PMID: 33743732 Free PMC article. Review.
The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane. ...While its functional role has become mu …
The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protea …
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA. Keyvani K, et al. Am J Med Genet. 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 1998. PMID: 9714442 Review.
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males so far. ...Cytogenetic and molecular studies did not uncover deletions in either Xp22.2 to 3 or in Xq27.3 to qter....
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 …
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.
OBJECTIVES: To perform light and immunoelectron microscopic studies, and partial genetic analysis on five patients in a family and three sporadic cases and to point out similarities of this rare disorder with chronic mucocutaneous candidiasis and other follicular keratosis syn …
OBJECTIVES: To perform light and immunoelectron microscopic studies, and partial genetic analysis on five patients in a family and three spo …