A novel mutation in IKBKG gene in a female child with incontinentia pigmenti

Incontinentia pigmenti (IP; OMIM# 308300) is a rare inherited disease caused by a mutation of IKBKG, which is also known as NEMO, located on Xq28. IP patients usually present with abnormalities of skin, eyes, nails and central nervous system. The neurological damege, which occur usually from neonatal through the early infantile period, leads to neulogical complication such as development retardation, motor paralysis and epilepsy. However, there has been little study done concerning the effect of therapy for the neural abnormalities. We have investigated the clinical findings in a female IP case with a novel mutation of IKBKG for six years due to disclosing the neurological prognosis and the immunological features. It is hoped that the present study will contribute to a better management of IP patients.

Creators Sakata Yasufumi

Creators Hirano Reiji

Creators Yasudo Hiroki

Creators Shimomura Yutaka

Creators Takada Hidetoshi

Creators Suehiro Yutaka

Creators Ohga Shouichi

Creators Hasegawa Shunji