[1] |
Sato⁃Matsumura KC, Matsumura T, Kumakiri M, et al. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter[J]. Br J Dermatol, 2000,142(1):157⁃162. doi: 10.1046/j.1365⁃2133.2000.03260.x.
|
[2] |
Oeffner F, Fischer G, Happle R, et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metallo⁃protease essential for cholesterol homeostasis and ER stress response[J]. Am J Hum Genet, 2009,84(4):459⁃467. doi: 10.1016/j.ajhg.2009.03.014.
|
[3] |
Nemer G, Safi R, Kreidieh F, et al. Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3[J]. Arch Dermatol Res, 2017,309(8):637⁃643. doi: 10.1007/s00403⁃017⁃1762⁃z.
|
[4] |
Nagakeerthana S, Rangaraj M, Karthikeyan K. Ichthyosis follicularis, alopecia, and photophobia syndrome[J]. Int J Trichology, 2017,9(2):67⁃69. doi: 10.4103/ijt.ijt_69_16.
|
[5] |
李云玲, 郑慧文, 李寅, 等. 新发MBTPS2基因突变致毛囊性鱼鳞病、秃发、畏光综合征一例[J]. 中华皮肤科杂志, 2020,53(2):98⁃101.doi: 10.35541/cjd.20190263.
|
[6] |
Naiki M, Mizuno S, Yamada K, et al. MBTPS2 mutation causes BRESEK/BRESHECK syndrome[J]. Am J Med Genet A, 2012,158A(1):97⁃102. doi: 10.1002/ajmg.a.34373.
|
[7] |
王森分, 肖媛媛, 徐哲, 等. 角膜炎-鱼鳞病-耳聋综合征[J].临床皮肤科杂志, 2016,45(3):177⁃179. doi: 10.16761/j.cnki. 1000⁃4963.2016.03.007.
|
[8] |
马东来, 石秀艳, 方凯. 棘状秃发性毛发角化病[J]. 临床皮肤科杂志, 2011,40(6):340⁃342. doi: 10.3969/j.issn.1000⁃4963. 2011.06.008.
|
[9] |
Aten E, Brasz LC, Bornholdt D, et al. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2[J]. Hum Mutat, 2010,31(10):1125⁃1133. doi: 10.1002/humu.21335.
|
[10] |
Wang HJ, Tang ZL, Lin ZM, et al. Recurrent splice⁃site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome⁃like features in a Chinese patient[J]. Clin Exp Dermatol, 2014,39(2):158⁃161. doi: 10.1111/ced.12248.
|
[11] |
Höpker LM, Ribeiro CG, Oliveira LM, et al. Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment[J]. Arq Bras Oftalmol, 2011,74(1):55⁃57. doi: 10.1590/s0004⁃27492011000 100013.
|
[12] |
Khandpur S, Bhat R, Ramam M. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin[J]. J Eur Acad Dermatol Venereol, 2005,19(6):759⁃762. doi: 10.1111/ j.1468⁃3083.2005.01318.x.
|