title: An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae.
abstract: Pseudofolliculitis barbae (PFB) is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males. Black individuals have a higher propensity of developing PFB due to their genetic predisposition for curly hair which inherently possesses a much higher risk of growing back into the skin than straight or wavy hair. The PFB process is, however, not gender dependent nor restricted to the face, but can occur in any skin region once regular shaving, plucking, or other traumatic means of hair removal are instituted. Through a family study and a large-scale investigation of randomly sampled PFB-affected and -unaffected individuals, this study demonstrates that an unusual single-nucleotide polymorphism, which gives rise to a disruptive Ala12Thr substitution in the 1A alpha-helical segment of the companion layer-specific keratin K6hf of the hair follicle, is partially responsible for the phenotypic expression and represents an additional genetic risk factor for PFB.
authors.affiliation: Section of Normal and Neoplastic Epidermal Differentiation, German Cancer Research Center, Heidelberg, Germany.
authors.forename: Hermelita
authors.initials: H
authors.lastname: Winter
authors.forename: Daniel
authors.initials: D
authors.lastname: Schissel
authors.forename: David A D
authors.initials: DA
authors.lastname: Parry
authors.forename: Thomasin A
authors.initials: TA
authors.lastname: Smith
authors.forename: Mirjana
authors.initials: M
authors.lastname: Liovic
authors.forename: E
authors.initials: E
authors.lastname: Birgitte Lane
authors.forename: Lutz
authors.initials: L
authors.lastname: Edler
authors.forename: Lutz
authors.initials: L
authors.lastname: Langbein
authors.forename: Luis F
authors.initials: LF
authors.lastname: Jave-Suarez
authors.forename: Michael A
authors.initials: MA
authors.lastname: Rogers
authors.forename: Joseph
authors.initials: J
authors.lastname: Wilde
authors.forename: Gerald
authors.initials: G
authors.lastname: Peters
authors.forename: Jürgen
authors.initials: J
authors.lastname: Schweizer
mesh_terms: D002478:Cells, Cultured; D005148:Facial Dermatoses / Q000209:etiology / Q000235:genetics*; D005499:Folliculitis / Q000209:etiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D017433:Protein Structure, Secondary; D012307:Risk Factors
chemical_list: D007633:Keratins