Ocular and dermatologic manifestation of neurocutaneous syndromes.
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.
Greenwald
M J
MJ
Northwestern University Medical School, Chicago, Illinois.
Paller
A S
AS
D005134:Eye Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology*; D014057:Tomography, X-Ray Computed