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:C0017638 (
glioma
)
30,880
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The dermatologic and ophthalmologic manifestations of neurocutaneous syndromes are numerous and varied, but familiarity with them is essential to the clinician from any specialty who may have to deal with these disorders. Although many of their complications are unfortunately still difficult or impossible to treat effectively, there may be significant benefit to the patient from prompt detection of optic
glioma
in NF, retinal angiomas in VHL disease, and glaucoma in
SWS
. Recognition of characteristic lesions of skin and eye in individuals with mild expressions of NF and TS is essential for genetic counseling. For affected children and their parents, early diagnosis (based on sometimes subtle findings) and formulation of a complete and accurate prognosis can considerably ease the burden imposed by any of these conditions.
...
PMID:Ocular and dermatologic manifestation of neurocutaneous syndromes. 161 19
