Article
Incontinentia pigmenti / Bloch-Sulzberger syndrome: a case report.
Acta dermatovenerologica Alpina, Pannonica, et Adriatica - 1 Mar 2022
Nirmalasari Dyah Ayu, Tabri Farida, Waspodo Nurelly, Rimayani Sri, Adriani Anni
Abstract excerpt
Incontinentia pigmenti is a rare genodermatosis that almost exclusively affects females. The disease is caused by a mutation of the nuclear factor-κB essential modulator (NEMO) gene in the Xq-28 locus of the X chromosome. The disease can seriously affect various organs, most notably the central nervous system and eyes. Cutaneous manifestation in incontinentia pigmenti is often mild but is an important diagnostic...
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