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.

Pachyonychia congenita with late onset of nail dystrophy: a new clinical entity?

BIANCHI, LUCA;CARROZZO, ANNA MARIA;
1993-01-01

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.
1993
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/35 - MALATTIE CUTANEE E VENEREE
English
Con Impact Factor ISI
adult; article; case report; dyskeratosis; female; human; hyperkeratosis; nail dystrophy; priority journal; keratosis; leukoplakia, oral; nail diseases; nails; syndrome; time factors
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.
Iraci, S; Bianchi, L; Gatti, S; Carrozzo, Am; Bettini, D; Nini, G
Articolo su rivista
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/57378
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 20
  • ???jsp.display-item.citation.isi??? 16
social impact