Culić Vida, Gabrić Dragana, Puizina-Ivić Neira, Rozman Katja, Peterlin Borut, Pavelić Jasminka
Department for Medical Genetics, Paediatric Clinic, University Hospital Center "Split", Split, Croatia.
Coll Antropol. 2008 Dec;32(4):1259-62.
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 delta4-10 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 delta4-10 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.
色素失禁症（IP）是一种罕见的遗传性多系统遗传性皮肤病。它以X连锁显性性状遗传。该疾病是NEMO基因（Xq28）突变的结果，这些突变完全消除了NF-κB必需调节因子的表达。在此，我们报告一名健康非近亲年轻父母的女婴，其具有临床上明显的IP第一阶段。对患者外周血淋巴细胞DNA进行PCR分析以检测NEMO delta4-10缺失。出生时出现的皮肤变化属于第一个炎症阶段。然而，皮肤活检的病理组织学特征显示为疾病的第二阶段。患病儿童的基因检测显示NEMO基因中有delta4-10。然而，由于对母亲白细胞进行的PCR未记录到相同突变的存在，因此该女童患有家族性IP的假设被否定。此外，同一母亲的健康男婴的存在以及其他家庭成员中缺乏该疾病的任何表型迹象进一步支持IP不是遗传的，而是NEMO基因新发突变的结果。总之，我们在此描述了一名具有临床IP表型的克罗地亚女性，其NEMO基因存在新发基因组重排。
