Naslov
Incontinentia pigmenti and NEMO gene deletion Delta 4-10 in a female infant from a healthy parents.

Autori
Gabrić, Dragana ; Čulić, Vida ; Gabrić, Katica ; Anđelinović, Deny ; Ivić Puizina, Nera ; Peterlin, Borut

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

Izvornik
The third European-American school in forensic genetics and Mayo clinic course in advanced molecular and cellular medicine.Final program and abstracts. / Primorac, Dragan ; Ivkošić Erceg, Ivana ; Ivkošić, Ante ; Vuk.Pavlović, Stanimir ; Schanfield, Moses. - Zagreb : Studio Hrg, 2003

Skup
The third European-American school in forensic genetics and Mayo clinic course in advanced molecular and cellular medicine.

Mjesto i datum
Zagreb, Hrvatska, 01.09.2003. - 05.09.2003

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
NEMO gene deletion; PCR analysis; genetics

Sažetak
Incontinentia pigmenti is rare, heritable, multisystem disorder that is transmitted as an X-linked dominant trait and is lethal in males. Familial incontinentia pigmenti is caused by mutations in the NEMO gene as IP2, or "classical" incontinentia pigmenti. Sporadic IP, the so-called IP1, which maps to Xp11, is categorized as hypomelanosis of Ito. The paucity of affected males and high frequency of spontaneous abortions in carrier females is the characteristic of the desease. The cutaneous manifestations can be divided into four phases, all of which may not occur in a given patient. Here we present a female infant of healthy parents with clinically evident first phase of IP: erythematous, linear streaks and plaques of vesicles that are most pronounced on the limbs. Pathohistologically, the beginning of the second phase of the illness was evident. By PCR analysis NEMO Delta 4-10 deletion was found.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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