Naslov
(An unusual Case of Pachyonychia congenita)

Autori
(Basta-Juzbašić, Aleksandra ; Videnić, Nada ; Pašić, Aida ; Marinović, Branka ; Lakoš-Jukić, Ines ; Štulhofer Buzina, Daška ; Ledić-Drvar, Danijela)

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
(Journal of the European Academy of Dermatology and Venereology) / (Ortonne, JP) - Brisel : Blackwell Publishing, 2005

Skup
(14th Congress of the European Acadedmy of Dermatology and Venereology)

Mjesto i datum
London, Ujedinjeno Kraljevstvo, 12.10.2005. - 16.10.2005

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
(Pachyonychia; Pachyonychia congenita tarda)

Sažetak
Pachyonychia congenita is an autosomal dominat keratoderma mostly presenting with focal palmoplantar keratoderma, pachyonychia, follicular keratosis and leukokeratosis. In type I. K16 and K 6a mutations have been identified and in type II. where K 17 and K 6b have been described. . Nail changes may be evident at birth but more commonly develops within the first few months of life. We present a new 69. year old female patient with unusual focal palmoplantar keratoderma, follicular keratosis on her elbows and knees and very late onset of pachyonychia on 1., 2., 3. finger nails and 1. toe nails. First signs of skin changes she noticed at 14. year, but pachyonychia appeared at her 68. year. Similar palmoplantar keratoderma had her mother, her brother, one of her son and daughter, and one of her grandson, but no other of this five affected members of her family have nail changes. The incidence of pachyonychia congenita in Croatian population is 0.53 case per 100.000 inhabitants. Nail changes are mostly present in childhood. In our earlier investigations we have observed some later onset of characteristic nail changes in only two patients (out of 25) ; in one during the second decade of life and in one in third decade. Such late onset, as in 68. year in our patient is very unusual and rare, so it can be considered as “ Pachyonychia congenita tarda” .

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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