Naslov
Diagnosis and follow up in three cases of incontinentia pigmenti

Autori
Kuzmanić-Šamija, Radenka ; Lozić, Bernarda ; Čulić, Vida ; Rešić, Biserka ; Gabrić Pandurić, Dragana ; Tomasović, Maja ; Rešić, Jasminka ; Peterlin, Borut

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

Izvornik
European Journal of Paediatric Neurology / Zuberi, SM - : Elsevier, 2008, S26-S26

Skup
International Conference on Diagnosis and Treatment in Pediatric Neurology

Mjesto i datum
Varšava, Poljska, 14.05.2008. - 17.05.2008

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
incontinentia pigmenti ; genetics ; mutation ; paediatrics

Sažetak
Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm. Involvement of the skin, hair, teeth, and nails is seen in conjunction with neurologic and ophthalmologic anomalies. The prognosis depends on the presence and severity of associated extracutaneous manifestations. Morbidity and mortality primarily result from neurologic and ophthalmologic complications, including mental retardation, seizures, and vision loss. In this report, three patients at different stages of the disease are presented. It has recently been discovered that incontinentia pigmenti is caused by mutations affecting the NEMO gene, resulting in defective activation of the transcription factor NF-úB as in our patients. The vesicular, verrucous and hyperpigmented forms of incontinentia pigmenti may coexist. The incidence of severe neurological defects is lower than first thought, affecting only 5% of cases our patients almost all have normal development outcome. Clinical features are highly variable in females even within individual families, due to the effects of lyonization all three patients have mildly affected fenotype. We believe that once the diagnosis of incontinentia pigmenti has been established, a systemic series of screening investigations sholud be performed.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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