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Some individuals may have a benign, yellowish-white, fatty tumor on the outer portion of the eyeball (epibulbarlipodermoid).Operating systems: Mac OS X 10.10 or later Windows 7 or later. (For more information on this disorder, choose “Dandy-Walker” as your search term in the Rare Disease Database.) Ocular abnormalities also occur in nevus sebaceus syndrome including a partial absence of tissue (coloboma) from the colored portion of the eye (iris) or the membrane lining the back of the eyes (retina), clouding (opacity) of the cornea, crossed eyes (strabismus), defects of the optic nerve and scarring degeneration or detachment of the retina. Dandy-Walker malformation is often associated with partial agenesis of part of the cerebellum known as the cerebellar vermis. Dandy-Walker malformation is a form of “obstructive” or “internal noncommunicating hydrocephalus”, meaning that the normal flow of cerebrospinal fluid is blocked resulting in the widening of the ventricles. Motor delays and learning problems may also occur. Summary The term 'epidermal nevus syndrome' is used interchangeably with nevus sebaceous syndrome.Įxcessive amounts of fluid accumulate around the brain and cause abnormally high pressure within the skull, swelling of the head (congenital hydrocephalus), and neurological impairment. Nevus sebaceus syndrome occurs randomly for no apparent reason (sporadically) during the formation and development of the embryo (embryogenesis), due to a mutation of a gene (ras) that occurs after fertilization (postzygotic mutation) and is present in only some of the cells of the body (mosaic pattern). Affected individuals may also have abnormalities affecting the brain such as seizures or intellectual impairment, the eyes such as clouding (opacity) of the cornea or partial absence of tissue of the iris or retina (coloboma), and the skeleton such as spinal malformations, craniofacial defects, and deformities of the arms and legs. Epidermal nevi are usually present at birth (congenital), although they might not be identified until later during childhood or after puberty.
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Nevus sebaceus is the most common type of organoid epidermal nevus (which broadly encompasses abnormally formed adnexal skin elements such as hair follicles and glands within the skin).
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