A rare inherited disorder involving lack of pigmentation and eye and brain defects caused by central nervous system abnormalities.
* Pigmented nevi * Freckles * White hair * Light blond hair * Gray blue eyes * Small eyes * Cataracts * Rapid involuntary eye movements * Blindness * Oligophrenia * Involuntary muscle contractions * Gingival fibromatosis * Brain abnormalities * Spastic paraplegia
his genetically inherited disease involves alterations of the melanin pigment system that affects skin, hair, and eyes. There are various forms of albinism, all of which are present at birth. Skin and hair color vary from snow white to brown, but the universal finding of iris translucency confirms the diagnosis. Associated eye findings include nystagmus, decreased visual acuity, decreased pigmentation of the retina, and strabismus. Lifelong diligence is needed to protect the skin from sun exposure, including using sunblock with an SPF greater than 30; wearing protective clothing, hats, and sunglasses (even for infants); avoiding the sun during high solar intensity; and obtaining routine skin examinations for the development of skin cancers. Suggest referral to a support group to assist patients with problems occurring in daily life. One such organization is the National Organization for Albinism and Hypomelanosis (NOAH).
Begin with a detailed patient history. Ask if any other family member has the same problem and if it was present from birth or developed after skin lesions or a rash. Were the lesions painful? Does the patient have any medical problems or a history of burns, physical injury, or physical contact with chemicals? Is he taking prescription or over-the-counter drugs? Find out if he has noticed other skin changes—such as erythema, scaling, ulceration, or hyperpigmentation—or if sun exposure causes unusually severe burning.
* Skin Health Specialists (Dermatology): o Dermatology (Skin Health Specialists) o Dermatopathology o Pediatric Dermatology (Child Skin Health) o Dermatological Immunology / Diagnostic Laboratory