Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

Nystagmus

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.


Total: 2

                      


(per page)
PMID (PMCID)
29171168
FEMALE Infant
Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus.
Bayart CB, Ishak GE, Finn LS, Lee A, Baran F, Sun A, Gupta D, Vitanza NA.
Pediatr Blood Cancer. 2018;65(3):.
Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus.
16516787
MIXED_SAMPLE Infant
Refractive laser surgery in children with coexisting medical and ocular pathology.
Astle WF, Papp A, Huang PT, Ingram A.
J Cataract Refract Surg. 2006;32(1):103-8.
Underlying medical and ocular conditions were as follows: upper eyelid hemangioma with oblique myopic astigmatism, Pelizaeus-Merzbacher leukodystrophy with nystagmus, Klippel-Trenaunay-Weber syndrome with glaucoma, incontinentia pigmenti with unilateral optic nerve atrophy, and Goldenhar syndrome with unilateral optic nerve hypoplasia.