Other Conditions

Piebaldism

Oculocutaneous Albinism

Vitiligo

Horner's Syndrome

Eye Trauma

Piebaldism

"Piebaldism" is an autosomal dominant condition that has been traced to a specific gene mutation. People who have piebaldism look very similar to persons who have WS. They may have patches of depigmented skin on their head and trunk, as well as on their eyebrows, eyelids, eyelashes, and hair. They may also have eyes of two different colors (heterochromia iridis). Deafness is not characteristic of piebaldism, nor is broad nasal root or dystopia canthorum. Piebaldism is often found in patients of African ancestry. It is impossible to tell the difference between piebaldism and WS just by looking at someone’s physical appearance. Knowing the history of family hearing loss may be helpful in making the distinction, but genetic analysis is the only certain way of distinguishing between the two conditions.

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Oculocutaneous Albinism/Ocular Albinism

People with "oculocutaneous albinism" may have total absence of pigment in their skin, hair, and eyes. Sometimes pigment is missing only from their eyes. In this case the person has a condition called "ocular albinism." The patient may have photophobia, strabismus and low vision. Some patients also have nystagmus (involuntary oscillation of the eyeballs). Most people with ocular albinism have an X-linked genetic condition called Nettleship-Falls ocular albinism. This means that the gene that causes ocular albinism is located on the X chromosome and is passed from mother to son. A less common, autosomal recessive form of ocular albinism results from a specific genetic mutation, and affects males and females equally.

People with oculocutaneous albinism Type 2 look similar to people with oculocutaneous albinism, except that their skin and hair have a generalized decreased in pigment. People with this problem have pale skin and yellowish colored hair. Oculocutaneous albinism may be present in WS2, but genetic testing is needed for accurate differential diagnosis, because oculocutaneous albinism occurs in several other syndromes.

The National Organization of Albinism and Hypopigmentation (NOAH) provides information and support to individuals who have pigmentary conditions. They can be contacted at http://www.albinism.org, or at P.O. Box 959 East Hampstead, NH 03826-0959.

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Vitiligo

"Vitiligo" is an autoimmune disorder caused by genetic mutations on chromosomes 1, 7, 8 and 4. People with vitiligo have depigmented patches of skin on the face, hands, feet, elbows, knees and chest. Their hair may lose pigment, and the depigmented areas of skin may increase in size. Hearing loss and craniofacial anomalies are not associated with vitiligo. Some cases of vitiligo appear to be hereditary, while others are associated with trauma, hyperthyroidism, diabetes, and adrenal problems. The main problems associated with vitiligo are cosmetic, especially when the condition occurs in individuals with very dark skin. Sometimes this condition goes away without treatment. For information about support services and information about vitiligo see the following resource:

American Vitiligo Research Foundation
PO Box 7540
Clearwater, FL 33758
Phone: 727-461-3899
Fax: 727-461-4796
Email: vitiligo@avrf.org
http://www.avrf.org
National Vitiligo Foundation
611 S Fleishel Ave

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Horner's Syndrome

"Horner’s syndrome" is not a genetic syndrome, but a collection of symptoms that may be caused by a variety of things. Congenital brain injury can cause a child to be born with heterochromia iridis, as well as one or more of the following symptoms: absence of sweating on the same side as the brain injury, paralysis of sympathetic nerve supply to the eyelid producing lid ptosis (drooping), and unequal pupil size. Horner’s syndrome can result from several neurological problems including Arnold-Chiari malformation, brain tumors, meningitis, spinal cord injury and Hodgkin’s disease. It is not associated with hearing loss or additional pigmentation anomalies.

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Eye Trauma

Eye trauma can destroy the pigment layer of the iris and cause scar tissue to form. This picture shows the eyes of a man who experienced eye trauma as a child. He is legally blind in the eye on the right side of the photograph. Look closely at this eye (click to enlarge), and you will see bands of scar tissue across the underlying blue pigment that remains in the iris. This man’s uninjured eye is brown and has normal vision. Sometimes this condition causes eye pain when the eye is exposed to strong sunlight. Corrective surgery or protective contact lenses can help with this problem.

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