Information on the following diseases can be found in the Related Disorders section of this report:

• Birthmarks
• Sturge-Weber Syndrome
• Tuberous Sclerosis

The most visible symptoms of Epidermal Nevus Syndrome are the skin lesions which are usually visible at birth. These lesions tend to form in a line and usually are excessively pigmented. Singular or multiple forms of the five major types of epidermal nevi may emerge. The lesions may be raised wart-like streaks, polyp-like masses forming in lines, dark velvety spots, scaly streaks or an orange, hairless, velvety patch covering part of the face, nose, eyes and scalp.

The underdeveloped glands that lubricate the skin (sebaceous glands) tend to overgrow, causing the abnormal changes in the outer layer of skin. These discolored lesions are usually found in the middle of the face from the forehead down the nose and on the scalp. Less commonly, the lesions may be found on the trunk and limbs of the body.

When the patient reaches puberty the lesions start to resemble wart like elevations and there is an increase in the cell growth of the sebaceous glands sometimes causing the growth of tumors. The growth and severity of these lesions usually become stable by the end of the teens.

Other symptoms associated with Epidermal Nevus Syndrome may be skeletal abnormalities such as excessive development of bones, backward or lateral curvature of the spine, and deformities of the foot and ankle. Mental retardation, cysts, seizures, and abnormalities of the eyes may also occur.

The exact cause of Epidermal Nevus Syndrome is not known although approximately two-thirds of the cases appear to be inherited as an autosomal dominant trait.

Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Epidermal Nevus Syndrome is a very rare disorder affecting males and females in equal numbers. There have been approximately 450 cases of Epidermal Nevus Syndrome reported.

Symptoms of the following disorders can be similar to those of Epidermal Nevus Syndrome. Comparisons may be useful for a differential diagnosis:

The word "nevus" means birthmark. There are many disorders that include birthmarks among their symptoms. However, in most cases birthmarks are normal discolorations of the skin causing no discomfort or illness.

Sturge-Weber Syndrome is a rare disorder composed of three major symptoms: Excessive blood vessel growths (leptomeningeal) are accompanied by accumulations of calcium inside the brain, and seizures. Facial birth marks (nevus flammeus) appear usually on one side of the face. Harmless tumors made up mainly of blood vessels (angiomas) can develop inside the eye, often with secondary glaucoma. (For more information on this disorder choose "Sturge-Weber Syndrome" as your search term in the Rare Disease Database.)

Tuberous Sclerosis is a rare disorder associated with benign tumors of the brain, skin lesions and occasionally other internal organs may be involved. It is most often characterized by two neurologic symptoms - epileptic seizures and varying degrees of mental retardation. This disorder may occur spontaneously or be inherited as an autosomal dominant trait. (For more information on this disorder choose "Tuberous Sclerosis" as your search term in the Rare Disease Database.)

Treatment of Epidermal Nevus Syndrome is symptomatic and supportive. Small birthmarks on patients may be removed surgically but removal of larger lesions often does not improve the appearance.

A watery solution of propylene glycol combined with lactic acid may be topically put on the skin lesions. There may be slight improvement with this treatment. Retinoic acid solution applied topically may also be used but this treatment also only shows slight improvement.

Abnormalities of the eyes, bones and other organs may require medical attention.

Genetic counseling may be of benefit for patients and their families.

The orphan product Monolaurin (Glylorin) is being tested for the treatment of Epidermal Nevus Syndrome. The product is manufactured by:

Cellegy Pharmaceuticals, Inc.
371 Bel Marin Keys, Suite 210
Novato, CA 94949

TEXTBOOKS
Thoene JG., ed. Physicians’ Guide to Rare Diseases. Montvale, NJ: Dowden Publishing Company Inc; 1995:

Jones KL., ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W. B. Saunders Co: 1997: .

Champion RH, et al., eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications; 1992:460-61.

JOURNAL ARTICLES
Ivker R, et al., Hypophosphatemia vitamin-D resistant rickets, precocious puberty, and the epidermal nevus syndrome. Arch Dermatol. 1997;133:1557-61.

Tokatli A, et al., Hypophosphatemia vitamin-D resistant rickets, associated with epidermal nevus syndrome. A case report. Turk J Pediatr. 1997;39:247-51.

Gurecki PJ, et al., Developmental neural abnormalities and seizures in epidermal nevus syndrome. Dev Med Child Neurol. 1996;38:716-23.

Happle R., Epidermal nevus syndromes. Semin Dermatol. 1995;14:111-21.