Oculocerebral Syndrome with Hypopigmentation is an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain parts of the brain (oculocerebral).
Physical findings at birth include unusually light skin color and silvery-gray hair. Abnormal findings associated with the central nervous system may include abnormal smallness of one or both eyes (microphthalmia); clouding (opacities) of the front, clear portion of the eye through which light passes (cornea); and/or rapid, involuntary eye movements (nystagmus).
Albinism This 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). Burns Thermal and radiation burns can cause transient or permanent hypopigmentation. Discoid lupus erythematosus This form of lupus erythematosus may produce hypopigmentation after inflammatory skin eruptions. Lesions are sharply defined, separate or fused macules, papules, or plaques; they vary from pink to purple, with a yellowish or brown crust and scaly, enlarged hair follicles. Although they may occur on other parts of the body, the lesions are typically distributed in a butterfly pattern over the cheeks and bridge of the nose. Telangiectasia may occur. After the inflammatory eruptive stage, noncontractile scarring and atrophy commonly affect the face and may also involve sun-exposed areas of the neck, ears, scalp (with possible alopecia), lips, and oral mucosa.