NeurometPlus

Incidence

Autosomal dominant trait of inheritance seems to occur in approximately two thirds of the cases. Most cases are sporadic but some are familial. MIM lists this syndrome in the autosomal dominant catalog.

Clinical Characteristics

A neurocutaneous syndrome characterized by cutaneous, neurologic (seizures), and ocular manifestations. Epidermal Nevus Syndrome is a rare disorder characterized by distinctive birth marks (nevus) on the skin. Neurological and skeletal abnormalities may also occur. This disorder is usually apparent at birth (due to the skin lesions which are most often seen in the midface from the forehead down into the nasal area) and is often associated with seizures, mental deficiency, eye problems, bone malformations and atrophy of the brain. The exact cause of Epidermal Nevus Syndrome is not known although an autosomal dominant trait of inheritance seems to occur in approximately two thirds of the cases. The hallmark of linear nevus sebaceous syndrome in the neonatal period is the presence of linear nevus sebaceous in the craniofacial region. Linear nevus sebaceous lesions have raised borders and yellowish color. Linear nevus sebaceous is a type of epidermal nevi. Other types of epidermal nevi are nevus unius lateralis, ichthyosis hystrix, and localized pigmented papilloma. Seizures and ocular abnormalities are usually present in the neonatal period. Magnetic resonance imaging of the brain may show ventricular dilatation, cerebral and cerebellar hypoplasia, and hamartomatous brain changes. Ocular calcification may be visualized by CT of the orbits. Linear nevus sebaceous syndrome is a sporadic disorder. Basically it is a neurocutaneous disorder in which epidermal nevi are associated with multiple anomalies affecting mainly the central nervous and skeletal systems. The nevi are generally present at birth and subsequently undergo pigmentary and verrucous changes, having special predilection for the face and scalp and extending to other organs. Seizures and mental retardation complicate the neurological abnormalities. Hemimegaloencephaly with ipsilateral gyral malformations, seizures, infantile spasms, facial hemihypertrophy, and Dandy-Walker malformation (absence of the cerebellar vermis, hydrocephalus, and posterior fossa cyst continuing with the fourth ventricle) occur in some cases.

Precipitants

none

Provocation Tests

none

Diagnostic Procedures

It is a clinical diagnosis.