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BADS is an acronym for Black Locks with Albinism and Deafness Syndrome. Newborns with white hair, eyebrows, and eyelashes (ermine-like camouflage), some black locks, and depigmented skin with some brown spots. Other features include nystagmus, photophobia, retinal depigmentation, and deafness. Mild mental retardation is possible.

Ermine Phenotype (Pigmentary Disorder with Hearing Loss).

In 1979, Witkop described the association of albinism with black locks and congenital hearing loss.

Extremely rare; less than 10 cases have been reported.

Autosomal recessive.

Results from either a failure of migration of melanocytes or an autoimmune mechanism.

Characteristic features include white hair, white eyebrows and eyelashes with scattered black tufts (black locks), reminiscent of the winter color change of the ermine (weasel) fur from brown-black to white, which affects the entire body, except for the distal half of the tail that remains brown-black. Sensorineural hearing loss is present.

Affected patients have vitiligo and patchy depigmentation, mild mental retardation, nystagmus, photophobia, retinal depigmentation. Early recognition of hearing impairment and protection from ultraviolet sunlight are the mainstay of management.

The appropriate anesthetic plan should be communicated to the patient by relatives or a person fluent in sign language. The patient should bring his/her hearing aid to the operating room.

Cooperation may be limited, depending on the degree of mental retardation. Presence of the primary caregiver during induction and/or anxiolytic and sedative premedication may be helpful. In regards to the photosensitivity, the brightness of the operating room lights should be dimmed as much as possible. No specific anesthetic concerns related to this disorder are expected.

No known specific implications.

ABCD Syndrome: An acronym that stands for Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness. It is considered an autosomal recessive inheritance condition, characterized pathologically by aganglionosis of large intestine, total absence of neurocytes and nerve fibers of small intestine, and total lack of sympathetic and parasympathetic innervation in small and large intestine. Usually lethal within the first months of life due to gastrointestinal dysfunction. The clinical features include albinism, macrosomnia, black lock at temporal occipital region, and retinal depigmentation. It is essential to evaluate the intravascular volume status, serum electrolytes, serum albumin, cell blood count, and coagulation profile. A chest x-ray and an ECG must be obtained to assess the respiratory and cardiac status.

O'Doherty NJ, Gorlin RJ: The ermine phenotype: Pigmentary-hearing loss heterogeneity. Am J Med Genet 30:945, 1988.  [PubMed: 3055988]
Witkop CJ Jr: Depigmentations of the general and oral tissues and their genetic foundations. Ala J Med Sci 16:330, 1979.  [PubMed: 397773]

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