The Impact of the Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti.

Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes, and central nervous system (CNS). Mutations of the gene are responsible for IP. Among the most frequent CNS abnormalities found in IP using magnetic resonance imaging (MRI) are corpus callosum (CC) abnormalities.

Dermoscopy in the Diagnostics of Incontinentia Pigmenti Skin Lesions.

Introduction: Incontinentia pigmenti (IP) is a rare X-linked geno-dermatosis characterized by numerous findings. Skin biopsy and histopathological analysis are considered as minor criteria for the diagnosis of IP. We assume that dermoscopy can assist the earlier diagnosis of IP.

Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous Mutation.

Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband initially diagnosed with West syndrome, later revealed to be caused by Incontinentia pigmenti (IP). Furthermore, 20 years later, it was discovered that the proband was also a carrier of a heterozygous gene mutation.

A Novel Frameshift Mutation of the IKBKG Gene Causing Typical Incontinentia Pigmenti.

Introduction: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are responsible for IP. A deletion of exons 4-10 can be found in 80% of patients with IP.