Pachyonychia congenita with late onset of nail dystrophy--a new clinical entity?
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.
Iraci
S
S
Department of Dermatology, Tor Vergata University of Rome, Italy.
Bianchi
L
L
Gatti
S
S
Carrozzo
A M
AM
Bettini
D
D
Nini
G
G
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