Incontinentia Pigmenti

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Incontinentia pigmenti is an X-linked domi-nantly inherited disorder usually lethal in males, affecting skin, bones, teeth, the central nervous system and eyes. The characteristic skin lesion begins soon after birth, with a linear eruption of bullae, which resolve to leave a linear pattern of hyperpigmentation. Ocular features are usually apparent within the 1st year of life can occur in up to 77% [18]. The main abnormalities are peripheral vascular abnormalities and retinal pigment epithelial defects. Macular vasculopathy with progressive capillary closure has also been described [13]. The affected eye is often microphthalmic and complications can arise from late tractional retinal detachment in up to half of those with eye involvement [18]. Prophylactic cryotherapy or

12.5 Retinal Detachment Complicating Developmental Abnormalities 201

photocoagulation to the peripheral avascular retina has been reported to arrest vascular proliferation and prevent late tractional detachment. Familial incontinentia pigmenti is caused by mutations in the NEMO gene and is referred to as IP2, or classical incontinentia pigmenti. Sporadic incontinentia pigmenti, the so-called IP1, which maps to Xpii, is categorized as hy-pomelanosis of Ito.

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