Kratko priopćenje
De Novo NEMO Gene Deletion (D4–10) – A Cause of Incontinentia Pigmenti in a Female Infant: A Case Report
Vida Čulić
Dragana Gabrić
Neira Puizina-Ivić
Katja Rozman
Borut Peterlin
Jasminka Pavelić
Sažetak
Incontinentia pigmenti (IP) is a rare, inherited, multisystem genodermatosis. It is transmitted as an X-linked dominant
trait. The disorder is a consequence of mutations in the NEMO gene (Xq28) that completely abolish expression of the
NF-kappaB essential modulator. Here we present a female infant of healthy nonconsanguinous, young parents with a
clinically evident first phase of IP. PCR analysis of patient’s peripheral blood lymphocytes DNA was done for detection of
NEMO D4–10 deletion. Skin changes present at birth appertain to first inflammatory stage. However, a pathohistological
feature of the skin biopsy showed second phase of disease. Genetic testing of diseased child revealed D4–10 in NEMO
gene. However, the assumption that the female child has familial IP was rejected as PCR performed on the mother’s leukocytes
did not record the presence of the same mutation. Moreover, the existence of a healthy male infant of the same
mother as well as the lack of any phenotypic signs of the disease in other family members additionally support that IP
was not inherited, but it was a consequence of de novo NEMO gene mutation. In conclusion, here we describe a Croatian
female with clinical IP phenotype having de novo genomic rearrangements in the NEMO gene.
Ključne riječi
incontinentia pigmenti; NEMO gene; mutation; female infant; Croatia
Hrčak ID:
34428
URI
Datum izdavanja:
1.12.2008.
Posjeta: 1.099 *