Contributor: Gordon K. Klintworth
Incontinentia pigmenti (Bloch-Sulzberger disease, Bloch-Sulzberger syndrome) is a rare inherited disease with ocular, cutaneous, neurologic, skeletal, dental, and cardiovascular manifestations affects female infants almost exclusively. The term "incontinentia pigmenti" stems from the belief of Bloch and Sulzberger that the pigment leaks down into the dermis instead of being carried upward into the epidermis to be shed in the usual manner. Two types of incontinentia pigmenti are recognized: incontinentia pigmenti type I and incontinentia pigmenti type II . Ocular lesions, which are present in ~25-34% of patients, include congenital cataracts [cataract - congenital], strabismus, nystagmus, microphthalmos, blue sclerae, myopia, and optic atrophy. The clinical picture of the ocular lesions resemble retinopathy of prematurity, persistent hyperplastic primary vitreous, retinal dysplasia, and sometimes retinoblastoma, leading to an erroneous enucleation. Extensive retinal detachment follows exudative chorioretinitis, hemorrhage, or some other cause. <5% of the more than two hundred documented cases have been males. The ocular and neurologic manifestations (mental retardation and convulsions) are a cause of permanent disability. Microcephaly, and peculiar-shaped deformities of the cranium and malformed teeth, which have a delayed eruption, are common. Histologic examination of the peculiar pigmented area discloses numerous melanin-laden macrophages in the dermis. Linear clusters of pigment, associated with histologically confirmed pigment beneath the basal layer of the conjunctival epithelium, have been noted in the interpalpebral apertures. The pathogenesis of the lesions in this freak of nature is not only unknown but defies the minds of imaginative speculators.