Avtor/Urednik		Miljković, Jovan
Naslov		Genetsko-epidemiološko istraživanje dyskeratosis follicularis i difuznih palmoplantarnih keratodermija u Sloveniji
Tip		monografija
Kraj izdaje		Zagreb
Založnik		Sveučilište u Zagrebu
Leto izdaje		2004
Obseg		str. 112
Jezik		cro
Abstrakt		During our studies on hereditary disorders of keratinisation the observation was made that in certain disorders some additional factors play a role in expression of symptoms beside the autosomal dominant gene. In an attempt to clarify this problem the epidemiological approach was used. Two autosomal dominant disorders were studied: DPPK and Mb. Darier. Data on patients for last 30 years (1973-2003) were collected from hospital records, by routine clinical work as well as by visiting patients at their homes. The data were used for compilation of pedigrees. 170 patients with diffuse HPPK were registered, 34 of them were isolated cases. The prevalence is 8,3:100000. The ratio affected/unaffected was 0,485: the involved patients ratio differs high significant than 50% (exact binom test: p<0,00001). The segregation ratio showed autosomal dominant mode of inheritance (p=0,37406). Almost all families originated from remote mountanious areas in Slovenia, where people were living in isolation for centuries. Prevalence in these areas differs high significant than prevalence in total Slovenian population (hi-quadrat test: p<0,00001). There were less affected persons among the younger generations and their symptoms were milder. 77 patients with MD were registered, 29 of them were isolated cases. Almost all families and isolated cases originated from different areas in Slovenia. The prevalence is 3,8:100000. The ratio affected/unaffected was 0,355: the involved patients ratio differs high significant than 50% (exact binom test: p<0,00001). The segregation ratio showed an autosomal dominant mode of inheritance (p=0,355). In 65% of patients the disease appeard or exacerbated due to UV rays exposure. It is estimated that the main factors contributing to the expression of symptoms DPPK were consanguinity due to the isolation and agricultural activities. In MD, additionally to inheritance, UV radiation seems to be an important triggering factor.
Deskriptorji		KERATODERMA, PALMOPLANTAR, DIFFUSE ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL PEDIGREE PREVALENCE RETROSPECTIVE STUDIES SLOVENIA