Epidermal nevus syndrome (ichthyosis hystrix)

General: One or a combination of the following epidermal nevi descr 242h79c ibed as nevus unius lateris, ichthyosis hystrix, linear nevus sebaceous, or congenital acanthosis nigricans; autosomal dominant.

Ocular: Blepharoptosis and fibroma on bulbar conjunctiva; antimongoloid eyelid fissures; eyelid colobomata; horizontal and rotary nystagmus; esotropia; conjunctival tumors; corneal opacities; corectopia and colobomata of the iris.

Clinical: Somatic anomalies involving the skeletal and central nervous system; anomalies of bone formation; atrophy; ankylosis; vitamin D-resistant rickets; bone cysts; mental retardation; cortical atrophy; hydrocephalus; focal and grand mal epilepsy; cerebrovascular tumors; cortical blindness.

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Goldberg LH, Collins SA, Siegel DM. The epidermal nevus syndrome: case report and review. Pediatr Dermatol 1987; 4:27-33.

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Mullaney PB, Weatherhead RG: Epidermal nevus syndrome associated with a complex choristoma and a bilateral choroidal osteoma. Arch Ophthalmol 1996; 114: 1292-l291.