Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016382 (flushing)
 6,387 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mucolipidosis IV is a lysosomal storage disease characterized by prominent involvement of the corneal epithelium. A 5-year-old boy with mucolipidosis IV experienced recurrent episodes of severe ocular pain, tearing, and ipsilateral facial flushing. This was suggestive of reflex sympathetic dystrophy, a syndrome of pain and sympathetic hyperactivity. The examination revealed marked corneal surface irregularities, corresponding to massive accumulations of intracytoplasmic storage material in the epithelium. Episodic pain in patients with mucolipidosis IV is an important symptom, presumably reflecting the distinctive corneal ultrastructural abnormality in this disease.
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PMID:Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV. 230 12

Facial temperature and amplitude of capillary pulsations from the forehead and cheeks were measured shortly before and after pharmacological blockade of the stellate ganglion in 9 patients with reflex sympathetic dystrophy of an upper limb, and in 1 other patient with erythromelalgia of all four limbs. Patients were then heated to determine the effect of sympathetic blockade on mediation of thermoregulatory facial flushing. Release of vasoconstrictor tone following stellate ganglion blockade was invariably followed by an increase in orbital and cheek temperature, and by similar but less consistent increases in temperature of the forehead, lips and chin. The amplitude of capillary pulsations recorded from the forehead and cheeks also increased on the side of stellate ganglion blockade. Flushing of the forehead and cheek on the sympathetically intact side during body heating far outweighed the extent of flushing after release of vasoconstrictor tone. The thermoregulatory response was prevented by sympathetic blockade, indicating that an active sympathetic vasodilator pathway had been interrupted. In contrast, the temperature of the orbit during body heating was not influenced by sympathetic blockade. Asymmetry of forehead temperature was detected before sympathetic blockade in 8 of 9 patients with reflex sympathetic dystrophy, suggesting that autonomic disturbances in this condition may influence cervical sympathetic outflow. The results indicate that sympathetic vasodilator fibres passing through the stellate ganglion mediate thermoregulatory facial flushing, and that release of vasoconstrictor tone has only a minor influence on this response in most areas of the face.
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PMID:Reflex control of facial flushing during body heating in man. 280 16