neurocutaneous การใช้

• Manuel G髆ez was most interested in neurocutaneous syndromes, and especially tuberous sclerosis.
• Neurocutaneous conditions are due organic nervous system disease or are psychiatric in etiology.
• Another proposed cause of neurocutaneous melanosis is a mutation of the NRAS gene at codon 61.
• Chemotherapy and radiotherapy have been shown to be ineffective in cases of neurocutaneous melanosis where malignancy is present.
• This wide range is most likely due to the large number of asymptomatic, undiagnosed patients with neurocutaneous melanosis.
• Approximately 10 % of patient with neurocutaneous melanosis also present the Dandy Walker syndrome and associated Dandy-Walker malformation.
• Neurocutaneous melanosis is associated with the presence of either giant congenital melanocytic nevi or non-giant nevi of the skin.
• It is estimated that neurocutaneous melanosis is present in 2 % to 45 % of patients with giant congenital melanocytic nevi.
• Currently, the preferred imaging modality for diagnosis of neurocutaneous melanosis is Magnetic Resonance Imaging, although ultrasound is another viable option.
• As most patients with neurocutaneous melanosis are asymptomatic, those who are diagnosed through MR imaging are not guarantied to develop symptoms.
• Imaging has been shown to be the only reliable detection method for the presence of neurocutaneous melanosis that can be performed in living patients.
• Neurocutaneous melanosis is characterized by the presence of congenital melanocytic nevi on the skin and melanocytic tumors in the leptomeninges of the central nervous system.
• The signal due melanin deposits in the leptomeninges typical of neurocutaneous melanosis can be easily detected in MRI scans of patients under 4 months old.
• Once a patient with neurocutaneous melanosis becomes symptomatic, little can be done to improve prognosis as there is no effective treatment for the disorder.
• The presence of a Dandy-Walker malformation along with neurocutaneous melanosis, as occurs in 10 % of symptomatic patients, further deteriorates prognosis.
• Mutations and deletions of in the ALDH3A2 gene have been widely associated with the autosomal recessive Sj鰃ren-Larsson syndrome, an autosomal recessive neurocutaneous disease.
• The abnormalities of the leptomeninges during fetal development due to neurocutaneous melanosis may be the cause of this increased incidence of the Dandy-Walker malformation.
• A 13-year-old with a giant congenital melanocytic nevus, or " bathing trunk ", which is a typical sign of neurocutaneous melanosis.
• The development of hydrocephalus is the most common symptom associated with a combination of neurocutaneous melanosis and a Dandy-Walker malformation, occurring in about 2 out of 3 patients.
• "' Gomez-Lopez-Hernandez Syndrome "'( "'GLH "') or "'cerebellotrigeminal-dermal dysplasia "'is a rare neurocutaneous ( Phakomatosis ) disorder affecting the trigeminal nerve and causing several other neural and physical abnormalities.