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., Bianchi, L., Gatti, S., Carrozzo, A.M., Bettini, D., & Nini, G. (1993). Pachyonychia congenita with late onset of nail dystrophy: a new clinical entity?. CLINICAL AND EXPERIMENTAL DERMATOLOGY, 18(5), 478-480.
Tipologia: | Articolo su rivista | |
Citazione: | Iraci, S., Bianchi, L., Gatti, S., Carrozzo, A.M., Bettini, D., & Nini, G. (1993). Pachyonychia congenita with late onset of nail dystrophy: a new clinical entity?. CLINICAL AND EXPERIMENTAL DERMATOLOGY, 18(5), 478-480. | |
IF: | Con Impact Factor ISI | |
Lingua: | English | |
Settore Scientifico Disciplinare: | Settore MED/35 - Malattie Cutanee e Veneree | |
Revisione (peer review): | Sì, ma tipo non specificato | |
Tipo: | Articolo | |
Rilevanza: | Rilevanza internazionale | |
Stato di pubblicazione: | Pubblicato | |
Data di pubblicazione: | 1993 | |
Titolo: | Pachyonychia congenita with late onset of nail dystrophy: a new clinical entity? | |
Autori: | ||
Autori: | Iraci, S; Bianchi, L; Gatti, S; Carrozzo, AM; Bettini, D; Nini, G | |
Appare nelle tipologie: | 01 - Articolo su rivista |