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Keratosis pilaris results from the buildup of keratin â a hard protein that protects skin from harmful substances and infection. The keratin forms a scaly plug that blocks the opening of the hair follicle. Usually many plugs form, causing patches of rough, bumpy skin. No one knows exactly why keratin builds up. But it may occur in association with genetic diseases or with other skin conditions, such as atopic dermatitis.
Mutations in the PAH gene can cause phenylketonuria (PKU), a disorder that can change cells in the brain. The faulty protein allows dangerously high levels of phenylalanine to accumulate in the brain, poisoning the cells. If a person with PKU consumes too much phenylalanine, the build-up can cause mental retardation.