Incontinentia Pigmenti Clinical Trials 2026 — Find Recruiting Studies

About Incontinentia Pigmenti

Incontinentia pigmenti is an X-linked dominant neuroectodermal disorder caused by pathogenic variants in IKBKG (also known as NEMO), a gene encoding a key regulator of the NF-kB signalling pathway. The condition predominantly affects females, as hemizygous males typically do not survive to term; male patients with somatic mosaicism or Klinefelter syndrome are occasionally reported. The disorder progresses through four distinct cutaneous stages — vesicular, verrucous, hyperpigmented, and atrophic — while systemically affecting the eyes, teeth, central nervous system, and hair.

Common Clinical Features

Stage 1 vesicular rash: inflammatory blisters along Blaschko's lines appearing at birth or within the first weeks of life Stage 2 verrucous plaques: warty, hyperkeratotic lesions developing on the limbs during infancy Stage 3 hyperpigmentation: swirling, whorled brown pigmentation following Blaschko's lines persisting through childhood Stage 4 atrophic streaks: hypopigmented, hairless, atrophic skin lines in adulthood Ocular abnormalities including retinal vascular disease, retinal detachment, and visual impairment in up to 35% of patients Dental anomalies: delayed dentition, hypodontia, conical or peg-shaped teeth Neurological involvement: seizures, intellectual disability, spasticity, and cerebral infarcts in a subset of patients

Clinical Trial Eligibility Tips

What to know before applying to Incontinentia Pigmenti trials.

Molecular confirmation of IKBKG deletion (exons 4–10 genomic rearrangement accounts for approximately 80% of cases) is typically required — MLPA or array CGH is the preferred first-line test.

Multisystem involvement means eligibility may depend on ophthalmology and neurology assessment findings; arrange baseline retinal examination and neurological evaluation before screening.

As the condition is nearly exclusive to females, trials may specify sex-based inclusion criteria; verify whether mosaic male cases are eligible under the specific protocol.