Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2

K. Fong, T. Takeichi, L. Liu, Rashida Pramanik, J. Lee, M. Akiyama, John A. McGrath*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

Abstract

Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome (OMIM 308205) is a rare X-linked genetic disorder. Mutations in MBTPS2 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.

Original languageEnglish
Pages (from-to)529-532
Number of pages4
JournalClinical and Experimental Dermatology
Volume40
Issue number5
DOIs
Publication statusPublished - 1 Jul 2015

Fingerprint

Dive into the research topics of 'Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2'. Together they form a unique fingerprint.

Cite this