engleski

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

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.

NEMO gene deletion; PCR analysis; genetics

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