Iraci S, Bianchi L, Gatti S, Carrozzo A M, Bettini D, Nini G
Department of Dermatology, Tor Vergata University of Rome, Italy.
Clin Exp Dermatol. 1993 Sep;18(5):478-80. doi: 10.1111/j.1365-2230.1993.tb02257.x.
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.
