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).

Retinal detachment

Separation of the inner layers of the retina (neural retina) from the pigment epithelium.


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(per page)
PMID (PMCID)
28932485
(5603187)
 OTHER
Incontinentia pigmenti in a child with suspected retinoblastoma.
Weiss SJ, Srinivasan A, Klufas MA, Shields CL.
Int J Retina Vitreous. 2017;3:34.
There are numerous simulating lesions that can present with leukocoria and retinal detachment, including incontinentia pigmenti.
25695859
 FEMALE Infant
Extended Follow-up of Treated and Untreated Retinopathy in Incontinentia Pigmenti: Analysis of Peripheral Vascular Changes and Incidence of Retinal Detachment.
Chen CJ, Han IC, Tian J, Munoz B, Goldberg MF.
JAMA Ophthalmol. 2015;133(5):542-8.
Extended Follow-up of Treated and Untreated Retinopathy in Incontinentia Pigmenti: Analysis of Peripheral Vascular Changes and Incidence of Retinal Detachment.
17976725
 FEMALE Middle Aged
Histopathologic and trypsin digestion studies of the retina in incontinentia pigmenti.
Bell WR, Green WR, Goldberg MF.
Ophthalmology. 2008;115(5):893-7.
Patients with retinal manifestations of incontinentia pigmenti may progress to proliferative vitreoretinopathy or retinal detachment and should be observed closely over the course of their lifetime.
8233390
 FEMALE Infant, Newborn
Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome).
Goldberg MF, Custis PH.
Ophthalmology. 1993;100(11):1645-54.
Incontinentia pigmenti should be included in the differential diagnosis of patients with peripheral retinal vascular nonperfusion, preretinal neovascularization, infantile retinal detachment, or foveal hypoplasia, particularly if there is evidence of characteristic dermatologic or other systemic manifestations.
8489439
 FEMALE Infant
Retinal detachments in incontinentia pigmenti.
Wald KJ, Mehta MC, Katsumi O, Sabates NR, Hirose T.
Arch Ophthalmol. 1993;111(5):614-7.
Retinal detachments in incontinentia pigmenti.
8489439
 FEMALE Infant
Retinal detachments in incontinentia pigmenti.
Wald KJ, Mehta MC, Katsumi O, Sabates NR, Hirose T.
Arch Ophthalmol. 1993;111(5):614-7.
These cases represent the first successful surgical interventions reported for retinal detachment in incontinentia pigmenti.