A condition resulting in discoloration of fingers and/or toes when a person is exposed to changes in temperature (cold or hot) or emotional events.
The skin discoloration occurs because an abnormal spasm of the of Raynaud’s phenomenon.
Raynaud’s phenomenon occurs with a number of conditions including rheumatic diseases (scleroderma, rheumatoid arthritis, systemic lupus erythematosus), hormone imbalance (hypothyroidism and carcinoid), trauma (frostbite, vibrating tools), medications (propranolol/INDERAL, estrogens, nicotine, bleomycin) and, rarely, cancer.
The phenomenon is named for the French physician Maurice Raynaud (1834-1881).
Thorazine), fluphenazine (Duraclon), mesoridazine (Serentil), perphenazine (Etrafon and Trilafon), prochlorperazine (Compazine), promazine (Robinul and Anectine), thioridazine (Mellaril), trifluoperazine (Stelazine) and triflupromazine (Robinul).
An appearance or characteristic of an individual, which results from the interaction of the person’s genetic makeup and his or her environment. By contrast, the genotype is merely the genetic constitution (genome) of an individual.
Phe. See also Phenylalanine hydroxylase deficiency; Phenylketonuria (PKU); Maternal phenylketonuria.
- Phenylalanine hydroxylase deficiency
Classic phenylketonuria (PKU) Variant PKU Non-PKU hyperphenylalaninemia (non-PKU HPA) In non-PKU HPA, there is elevation of phenylalanine (phe) in the blood but not enough to qualify as PKU or variant PKU. Non-PKU HPA is associated with the least risk of intellectual damage. Variant PKU is intermediate between PKU and non-PKU HPA. The decision as to […]
The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase. Newborns are screened for phenylketonuria (PKU) by a blood test, usually with the Guthrie card bloodspot obtained from a heelprick. Treatment is with a special diet low in phenylalanine. The goal is to […]