Keratosis pilaris atrophicans

Definition:

Keratosis pilaris atrophicans (KPA) is a group of follicular syndromes characterised by inflammation and atrophy. Three clinical entities of KPA are described, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD) and atrophoderma vermiculatum (AV).

References:

[1]. Emmelien Aten, et al. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat. 2010 Oct;31(10):1125-33. [Content Brief]

[2]. Giorgio Gimelli, et al. Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum Genet. 2002 Sep;111(3):235-41. [Content Brief]

[3]. Jane S Bellet, et al. Keratosis follicularis spinulosa decalvans in a family. J Am Acad Dermatol. 2008 Mar;58(3):499-502. [Content Brief]

[4]. Joakim Klar, et al. Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. J Med Genet. 2015 Sep;52(9):599-606. [Content Brief]

[5]. Marco Castori, et al. Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. Eur J Med Genet. 2009 Jan-Feb;52(1):53-8. [Content Brief]

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