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Quoted phrase not found in phrase index: "IFAP syndrome 2"
Page 1
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 …
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 …
Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report.
Ferrari B, Morita L, Choate K, Hu RH. Ferrari B, et al. Dermatol Online J. 2017 Feb 15;23(2):13030/qt8vx6n6n1. Dermatol Online J. 2017. PMID: 28329493 Free article.
IFAP syndrome is a rare autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photophobia, and follicular ichthyosis. ...
IFAP syndrome is a rare autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photop …
Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia).
König A, Happle R. König A, et al. Am J Med Genet. 1999 Aug 6;85(4):365-8. doi: 10.1002/(sici)1096-8628(19990806)85:4<365::aid-ajmg12>3.0.co;2-#. Am J Med Genet. 1999. PMID: 10398262
IFAP syndrome is considered to be an X-linked recessive trait. The phenotype present in female carriers has so far not been delineated. ...This is the first report to document linear skin lesions visualizing lyonization in women heterozygous for IFAP syndr …
IFAP syndrome is considered to be an X-linked recessive trait. The phenotype present in female carriers has so far not been de …
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH. Bornholdt D, et al. Hum Mutat. 2013 Apr;34(4):587-94. doi: 10.1002/humu.22275. Epub 2013 Mar 8. Hum Mutat. 2013. PMID: 23316014
Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) syndrome with or without BRESHECK syndrome, with keratosis follicularis spi …
Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follic …
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
Jiang Y, Jin H, Zeng Y. Jiang Y, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e812. doi: 10.1002/mgg3.812. Epub 2019 Jun 18. Mol Genet Genomic Med. 2019. PMID: 31215178 Free PMC article.
IFAP syndrome results from mutations in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). ...CONCLUSION: This study demonstrated a novel MBTPS2 mutation in a patient with IFAP syndrome and thus expands the kno …
IFAP syndrome results from mutations in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MB …
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 …
The Treatment of Infected Femoral Artery Pseudoaneurysms Secondary to Drug Abuse: 11 Years of Experience at a Single Institution.
Qiu J, Zhou W, Zhou W, Tang X, Yuan Q, Zhu X, Yang Y, Xiong J. Qiu J, et al. Ann Vasc Surg. 2016 Oct;36:35-43. doi: 10.1016/j.avsg.2016.03.030. Epub 2016 Jul 15. Ann Vasc Surg. 2016. PMID: 27427346
Acute hemorrhage at the injection site, pulsatile mass, septic syndrome, and necrosis were present in 65, 14, 8, and 1 patients, respectively. ...Primary repair may be adopted for special IFAP patients with short drug injection history and limit infection to avoid s …
Acute hemorrhage at the injection site, pulsatile mass, septic syndrome, and necrosis were present in 65, 14, 8, and 1 patients, resp …
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT. Aten E, et al. Hum Mutat. 2010 Oct;31(10):1125-33. doi: 10.1002/humu.21335. Hum Mutat. 2010. PMID: 20672378
Toward identification of the causative gene we reanalyzed a large Dutch KFSD family. SNP arrays (1 M) redefined the locus to a 2.9-Mb region at Xp22.12-Xp22.11. Screening of all 14 genes in the candidate region identified MBTPS2 as the candidate gene carrying a c.1523A> …
Toward identification of the causative gene we reanalyzed a large Dutch KFSD family. SNP arrays (1 M) redefined the locus to a 2.9-Mb …
Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome.
Rai VM, Shenoi SD. Rai VM, et al. Indian J Dermatol Venereol Leprol. 2006 Mar-Apr;72(2):136-8. doi: 10.4103/0378-6323.25640. Indian J Dermatol Venereol Leprol. 2006. PMID: 16707821
Cutaneous examination revealed diffuse thinning of scalp hair with loss of eyebrows and eyelashes and a sandpapery texture of the skin all over the body, suggestive of ichthyosis follicularis with alopecia and photophobia syndrome....
Cutaneous examination revealed diffuse thinning of scalp hair with loss of eyebrows and eyelashes and a sandpapery texture of the skin all o …
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