title: Pachyonychia congenita with late onset of nail dystrophy--a new clinical entity?
abstract: Pachyonychia congenita syndrome (PCS) is a genetic disease with an autosomal dominant mode of transmission in which the main sign, pachyonychia, usually arises at birth or in childhood together with other disorders of keratinization. A 28-year-old woman developed subungual hyperkeratosis of all toe-nails and thumb-nails associated with pain on pressure and walking. She had a scrotal tongue with leucokeratotic areas, blister formation, plantar hyperkeratosis, palmoplantar hyperhidrosis and dental cavities since childhood. The present case, interpreted as PCS of late onset, could be a clinical variant of the Jadassohn-Lewandowsky syndrome with the late onset of pachyonychia or else an additional form of PCS due to the expression of a new and different allele.
authors.affiliation: Department of Dermatology, Tor Vergata University of Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Iraci
authors.forename: L
authors.initials: L
authors.lastname: Bianchi
authors.forename: S
authors.initials: S
authors.lastname: Gatti
authors.forename: A M
authors.initials: AM
authors.lastname: Carrozzo
authors.forename: D
authors.initials: D
authors.lastname: Bettini
authors.forename: G
authors.initials: G
authors.lastname: Nini
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007642:Keratosis / Q000209:etiology*; D007972:Leukoplakia, Oral / Q000209:etiology; D009260:Nail Diseases / Q000209:etiology*; D009264:Nails, Malformed; D013577:Syndrome; D013997:Time Factors