title: Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome?
abstract: The association of familial totalis leukonychia with multiple pilar cysts is a rare condition that could represent a separate syndromic entity. Since Bauer described a family with totalis leukonychia and sebaceous cysts in 1920, only four new affected families have been reported. We report a five-generation family with a total leukonychia and multiple pilar cysts on the scalp. The hypothesis of a deficiency of a gene regulating the structure of keratin has been postulated but the exact genetic mechanism has not been yet determined. In our family, no other keratinizing structures were involved.
authors.affiliation: Department of Dermatology, CHU A Coruña, Sir John Moore s/n., 15001 A Coruña Spain. rodriguezlojo@hotmail.com
authors.forename: Romina
authors.initials: R
authors.lastname: Rodríguez-Lojo
authors.forename: Jesús
authors.initials: J
authors.lastname: Del Pozo
authors.forename: Felipe
authors.initials: F
authors.lastname: Sacristán
authors.forename: Juan
authors.initials: J
authors.lastname: Barja
authors.forename: Francisca
authors.initials: F
authors.lastname: Piñeyro-Molina
authors.forename: Lucia
authors.initials: L
authors.lastname: Pérez-Varela
mesh_terms: D000328:Adult; D001762:Blepharitis / Q000175:diagnosis* / Q000235:genetics; D004814:Epidermal Cyst / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017496:Hypopigmentation / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D008875:Middle Aged; D009260:Nail Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010859:Pigmentation Disorders / Q000175:diagnosis* / Q000235:genetics; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics