Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0016382 (
flushing
)
6,387
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A healthy 18-month-old girl presented with a history of intermittent hemifacial
flushing
when eating. Her symptom seemed to be exclusively triggered by chewing. Examination revealed cutaneous features of neurofibromatosis type 1 (NF1) and mild facial asymmetry. Imaging confirmed cerebral vacuolisation changes seen in NF1 and a left facial
plexiform neurofibroma
involving the parotid gland. This is the first reported case of Frey syndrome complicating NF1.
...
PMID:Frey syndrome in neurofibromatosis 1. 2269 2
