Ocular involvement is seen in almost 100% cases and is typically unilateral Incontinentia pigmenti Incontinentia Pigmenti (IP), also referred to as Bloch- Sulzberger syndrome is an unusual inherited disorder of skin pigmentation that is associated with abnormalties of :- i) Skin --) (100% of affected people) ii) Teeth --)(80-90% of affected people) iii) Bones --) (30-40% of affected individuals) iv) CNS i.e., brain & spinal cord (30-40% of affected individuals) v) Eyes --) (25-35% of affected individuals) Incontinentia pignzenti is an X- linked dominant disorder - Usually occurs in .females as dominant disease is lethal in males. (have only one 'X' chromosome). Dermatological manifestations There is characteristic neonatal rash along the line of Blaschko which passes through four stages:- i) Vesicular stage --f Present at bih ii) Verrucous stage --> Between the age of 2-8 weeks. iii) Hyperpigmented stage --> Between the age of 12-40 weeks. iv) Hypopigmented stage --> From infancy through adulthood Hair Scarring alopecia Nails -->Onychodystrophy or nail dysplasia, subungual keratotic tumor. Teeth & Jaw -Delayed eruption, - Paial anodontia, - Microdontia, - Conical or pegged teeth. - Micrognathia, prognathia. Bone - Hemiveebrae, - Scoliosis, - Spinabifieda, - Syndactyly, - Acheiria (Congenital absence of hands), extra ribs. CNS - Microcephaly, - Mental retardation, - Spasticity, - Seizures, - Ataxia, - Encephalopathy, - Hyperactivity Eves (20-35%) case - Involvement is assymetrical. - The two pathognomic chages are :? - Retinal pigmentary changes with mottled diffuse hypopigmentation. - Abnormal peripheral retinal vessels with areas of nonperfusion (avascularity of peripheral retina) - Other changes of eye are - Microphthalmia, - Retrolental mass (psedoglioma or retinoblastoma with intraocular calcification), - Cataract, - Leukocoria, - Band Keratopathy, - Strabismus, - Congenital glaucoma, - Blue sclera, Exudative retinal detachement