Author/Editor		Peterlin, B; Podrumac, B; Stirn, B
Title		Inkontinenca pigmenta: klinične in genetske značilnosti
Translated title		Incontinentia pigmenti: clinical and genetic aspect
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 7, št. Suppl 1
Publication year		2000
Volume		str. 120-1
Language		slo
Abstract		Incontinentia pigmenti (IP) is an X linked dominant disorder with a prevalence of about 1 in 38 000. Clinical diagnosis is based on the characteristic evolution of skin lesions (particularly stages I and III), ectodermally derived tissues (especially teeth) as well as family history of disease. Indirect molecular genetic diagnosis is possible in familial cases due to localisation of the IP II gene in the Xq28 region.
Summary		Inkontinenca pigmenta (IP) je na kromosom X vezana dominantna bolezen s prevalenco okoli 1 na 38 000. Za klinično diagnostiko bolezni je pomembna značilna evolucija kožnih sprememb. Za diagnozo IP je pomembna evolucija kožnih sprememb (posebno prvi in tretji stadij), prizadetost drugih struktur ektodermalnega izvora (posebno zobovja) in pozitivna družinska anamneza, prizadetost ostalih struktur je v diagnostično oporo. Lokalizacija gena v področju Xq28 omogoča molekularno-genetsko diagnostiko bolezni.
Descriptors		INCONTINENTIA PIGMENTI