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MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.
Clin Exp Dermatol 2012; 37(6):631-4CE

Abstract

Keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) is an X-linked disorder characterized by widespread hyperkeratotic follicular papules (including keratosis pilaris-like lesions), facial erythema, hypotrichosis and scarring alopecia. KFSD results from mutations in the MBTPS2 gene. Mutations in this gene also underlie ichthyosis follicularis, alopecia and photophobia syndrome. We report a British pedigree with KFSD resulting from the mutation p.Asn508Ser. This particular mutation has been reported in three other pedigrees with KFSD (Dutch, American, British) and is the only pathogenic mutation reported in this disorder to date. However, the same mutation has also been reported in a Chinese pedigree with IFAP syndrome, highlighting the clinical heterogeneity and overlapping molecular pathology of these two disorders.

Authors+Show Affiliations

St John's Institute of Dermatology, King's College London, (Guy's Campus), London, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22816986

Citation

Fong, K, et al. "MBTPS2 Mutation in a British Pedigree With Keratosis Follicularis Spinulosa Decalvans." Clinical and Experimental Dermatology, vol. 37, no. 6, 2012, pp. 631-4.
Fong K, Wedgeworth EK, Lai-Cheong JE, et al. MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. Clin Exp Dermatol. 2012;37(6):631-4.
Fong, K., Wedgeworth, E. K., Lai-Cheong, J. E., Tosi, I., Mellerio, J. E., Powell, A. M., & McGrath, J. A. (2012). MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. Clinical and Experimental Dermatology, 37(6), pp. 631-4. doi:10.1111/j.1365-2230.2011.04288.x.
Fong K, et al. MBTPS2 Mutation in a British Pedigree With Keratosis Follicularis Spinulosa Decalvans. Clin Exp Dermatol. 2012;37(6):631-4. PubMed PMID: 22816986.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. AU - Fong,K, AU - Wedgeworth,E K, AU - Lai-Cheong,J E, AU - Tosi,I, AU - Mellerio,J E, AU - Powell,A M, AU - McGrath,J A, PY - 2012/7/24/entrez PY - 2012/7/24/pubmed PY - 2012/11/6/medline SP - 631 EP - 4 JF - Clinical and experimental dermatology JO - Clin. Exp. Dermatol. VL - 37 IS - 6 N2 - Keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) is an X-linked disorder characterized by widespread hyperkeratotic follicular papules (including keratosis pilaris-like lesions), facial erythema, hypotrichosis and scarring alopecia. KFSD results from mutations in the MBTPS2 gene. Mutations in this gene also underlie ichthyosis follicularis, alopecia and photophobia syndrome. We report a British pedigree with KFSD resulting from the mutation p.Asn508Ser. This particular mutation has been reported in three other pedigrees with KFSD (Dutch, American, British) and is the only pathogenic mutation reported in this disorder to date. However, the same mutation has also been reported in a Chinese pedigree with IFAP syndrome, highlighting the clinical heterogeneity and overlapping molecular pathology of these two disorders. SN - 1365-2230 UR - https://www.unboundmedicine.com/medline/citation/22816986/MBTPS2_mutation_in_a_British_pedigree_with_keratosis_follicularis_spinulosa_decalvans_ L2 - https://doi.org/10.1111/j.1365-2230.2011.04288.x DB - PRIME DP - Unbound Medicine ER -