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.
Pediatr Dermatol. 2021 May;38(3):568-574. doi: 10.1111/pde.14560. Epub 2021 Mar 19.
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
Mégarbané H, Mégarbané A.
Orphanet J Rare Dis. 2011 May 21;6:29. doi: 10.1186/1750-1172-6-29.
An intronic splice-site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome.
Chen G, Wang M, Wang P, Liang B.
J Dermatol. 2023 May;50(5):715-719. doi: 10.1111/1346-8138.16684. Epub 2022 Dec 20.
A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome.
Shin JO, Roh D, Shin K, Kim WI, Yang MY, Lee WK, Kim HS, Kim BS, Kim MB, Ko HC.
Ann Dermatol. 2022 Feb;34(1):59-62. doi: 10.5021/ad.2022.34.1.59. Epub 2022 Jan 27.
Atopic Dermatitis with Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome: A Case Report.
[No authors listed]
Allergol Int. 2014;63(2):279-281. doi: 10.2332/allergolint.13-LE-0597. Epub 2015 Feb 27.
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
Fong K, Takeichi T, Liu L, Pramanik R, Lee J, Akiyama M, McGrath JA.
Clin Exp Dermatol. 2015 Jul;40(5):529-32. doi: 10.1111/ced.12587. Epub 2015 Feb 16.
Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome affecting two successive generations in an Indian family.
Lal NR, Bandyopadhyay D, Misra S, Sarkar AK, Rao S.
Indian J Dermatol Venereol Leprol. 2016 Sep-Oct;82(5):537-9. doi: 10.4103/0378-6323.182796.
A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.
Nakayama J, Iwasaki N, Shin K, Sato H, Kamo M, Ohyama M, Noguchi E, Arinami T.
J Hum Genet. 2011 Mar;56(3):250-2. doi: 10.1038/jhg.2010.163. Epub 2010 Dec 23.
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.
Bin Rubaian NF, Al-Awam BS, Alluhaybi AH, Alsaati AA.
Clin Cosmet Investig Dermatol. 2023 Dec 7;16:3527-3533. doi: 10.2147/CCID.S439288. eCollection 2023.
Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report.
Ferrari B, Morita L, Choate K, Hu RH.
Dermatol Online J. 2017 Feb 15;23(2):13030/qt8vx6n6n1.
