General description

Incontinentia pigmenti is a rare genetic disorder caused by pathogenic variants in the IKBKG gene, located on the X chromosome. This gene regulates the NF-κB signaling pathway, which is crucial for cell survival, inflammation, and immune responses. Approximately 80% of patients exhibit deletions in exons 4 to 10 of the IKBKG gene, leading to disrupted NF-κB function. The disease follows an X-linked dominant inheritance pattern, primarily affecting females, while male fetuses typically do not survive.

Incontinentia pigmenti manifests with characteristic skin lesions that progress through four stages: an initial blistering phase at birth, followed by a wart-like stage, then swirling hyperpigmentation, and eventually linear depigmentation in adulthood. In addition to skin symptoms, patients may experience hair abnormalities such as patchy baldness and missing eyelashes or eyebrows, nail dystrophies, and dental anomalies, including missing or cone-shaped teeth. Ocular complications, particularly retinal vascular abnormalities, can lead to retinal detachment. Neurological symptoms vary, with some individuals experiencing seizures, developmental delays, or motor impairments. Other possible manifestations include skeletal abnormalities, breast hypoplasia, and scoliosis.

References

1. Soltirovska Salamon, Aneta, et al. "Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti." Developmental Medicine & Child Neurology 58.10 (2016): 1076-1084.