https://orcid.org/0000-0002-5535-7854
References
- Naiki M, Mizuno S, Yamada K, et al. MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Am J Med Genet A. 2012;158a:97–102. doi:10.1002/ajmg.a.34373
- Kamo M, Ohyama M, Kosaki K, et al. Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly. Am J Dermatopathol. 2011;33(4):403–406. doi:10.1097/DAD.0b013e3181e8b562
- Oeffner F, Fischer G, Happle R, et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet. 2009;84(4):459–467. doi:10.1016/j.ajhg.2009.03.014
- Wang H, Humbatova A, Liu Y, et al. Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome. Am J Hum Genet. 2020;107(1):34–45. doi:10.1016/j.ajhg.2020.05.006
- Macleod JM, Collins ET. Two cases of advanced “Keratosis follicularis”, associated with baldness. Proc R Soc Med. 1908;1:27–31.
- Mégarbané H, Mégarbané A. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet J Rare Dis. 2011;6(1):29. doi:10.1186/1750-1172-6-29
- 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. Arq Bras Oftalmol. 2011;74(1):55–57. doi:10.1590/S0004-27492011000100013
- Nakayama J, Iwasaki N, Shin K, et al. A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation. J Hum Genet. 2011;56(3):250–252. doi:10.1038/jhg.2010.163
- Malvankar DD, Sacchidanand S. Keratosis follicularis spinulosa decalvans: a report of three cases. Int J Trichology. 2015;7:125–128. doi:10.4103/0974-7753.167461
- Tao J, Huang CZ, Yu NW, et al. Olmsted syndrome: a case report and review of literature. Int J Dermatol. 2008;47:432–437. doi:10.1111/j.1365-4632.2008.03595.x
- 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. Clin Exp Dermatol. 2014;39:158–161. doi:10.1111/ced.12248
- Bolognia JL, Schaffer JV, Cerroni L. Dermatology: 2-Volume Set. 4th ed. Elsevier; 2017.
- Martino F, D’Eufemia P, Pergola MS, et al. Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Am J Med Genet. 1992;44(2):233–236. doi:10.1002/ajmg.1320440222
- Elharrouni AA, Baybay H, Douhi Z, et al. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): a case report and review of the literature. J Dermatol Sci Res Rev Rep. 2020;1:1–2.