Naslov
Pachyonichia Congenita: A case with early appearance and rapid progression of symptoms

Autori
Kotrulja, Lena ; Šitum, Mirna ; Levanat, Sonja

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

Izvornik
European Journal of Pediatric Dermatology / Ferrando, J. ; Grimalt, R. - Barcelona, 2002, 28-28

Skup
7th Congress of the European Society for Paediatric Dermatology

Mjesto i datum
Barcelona, Španjolska, 21.11.2003. - 23.11.2003

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
pacyonichia congenita; genetics

Sažetak
Pachyonichia congenita is rare autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dstrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratoses and follicular keratosis. Less frequently epidermal cysts, hairshaft abnormalities, natal teeth and larygeal invlovement may be seen. Phenotipically and genetically two major forms of PC are recognized. By mutational analysis keratin K6a and K16 gene mutations have been detected in patients with PC type I and keratin K6b and K17 gene mutations in aptients with PC type II. Objective: We report a case of female newborn baby with hypertrophic nail distrophy of all fingers and toes. The progressive nail thickening as well as the rapid appearance of hyperkeratotic areals on the palmes and soles formed dramatic postnatal phenotype during first months of life.Molecular genetics analyses of the baby and the parents are in procedure. Conclusions: We can hypothesisze a novel missence mutation as this is a sporadic case with no history of pachyonichia congenita in a family but it would be anwered soon by the results of molecular genetic analysis which is in course. The phenotypic manifestation was of PC type L with very rapid progression of symptoms. No neurological or ophtalmological disturbances were observed.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA