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Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS 2
Author(s) -
Fong K.,
Takeichi T.,
Liu L.,
Pramanik R.,
Lee J.,
Akiyama M.,
McGrath J. A.
Publication year - 2015
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12587
Subject(s) - photophobia , ichthyosis , dermatology , medicine , ophthalmology
Summary Ichthyosis follicularis, atrichia and photophobia ( IFAP ) syndrome ( OMIM 308205) is a rare X‐linked genetic disorder. Mutations in MBTPS 2 underlie IFAP syndrome, with 19 different mutations reported to date. Keratosis follicularis spinulosa decalvans ( KFSD ) is an allelic disorder that results from a single recurrent mutation, p.Asn508Ser. We report a case from the UK of IFAP syndrome resulting from a new mutation, p.Asn508Thr, emphasizing the significant overlap between IFAP and KFSD at both the molecular and clinical levels. An area of alopecia on the scalp of the proband's mother was also noted, suggesting lyonization.