No abstract available.
Neurocutaneous Syndromes*

No abstract available.
Neurocutaneous Syndromes*

No abstract available.
Humans ; Infant* ; Neurocutaneous Syndromes*

No abstract available.
Humans ; Male ; Neurocutaneous Syndromes*

No abstract available.
Eye Diseases ; Lipomatosis ; Neurocutaneous Syndromes

Multiple primary brain tumors of different cell types are rare, accounting for 0.4% of all the primary brain tumors. Phakomatosis, irradiation, trauma and other factors have been associated with multiplicity of brain tumors. When these tumors are close or intermixed, the term "collision" has been used, and in these cases an explanation might be that one tumor stimulating the other. We report a patient with collision tumor of meningioma and anaplastic astrocytoma, who did not have a history of trauma, irradiation, or phakomatosis.
Astrocytoma* ; Brain Neoplasms ; Humans ; Meningioma* ; Neurocutaneous Syndromes

Child ; Humans ; Male ; Melanoma ; Melanosis ; Meningeal Neoplasms ; Neurocutaneous Syndromes

Hemimegalencephaly and tuberous sclerosis complex are distinct and rare conditions which are characterized by malformations of cortical developments. Hemimegalencephaly is a cerebral malformation of unknown pathophysiology characterized by asymmetry of the hemispheres and cortical dysplasia. Tuberous sclerosis complex(TSC) is an autosomal dominant neurocutaneous disorder characterized by the formation of hamartomatous lesion in multiple organ systems. While they are currently thought to be unrelated, there are similar cases in the literature and it is conceivable that an abnormality in early cortical development could lead to both conditions in an individual. We report here a first Korean case of unusual association of hemimegalencephaly and tuberous sclerosis complex with mutation in the TSC2 gene, who presented initially frequent partial seizures and infantile spasms.
Epilepsy ; Malformations of Cortical Development ; Neurocutaneous Syndromes ; Seizures ; Tuberous Sclerosis

Type 1 neurofibromatosis (NF1), also known as von Reck-linghausen's disease, is a common autosomal dominant neurocutaneous disorder. Persons with NF1 have an increased risk of malignancy compared with the general population, but there are few reports of neurofibromatosis combined with breast cancer. We report on three cases of breast cancer combined with NF1.
Breast ; Breast Neoplasms ; Female ; Humans ; Neurocutaneous Syndromes ; Neurofibromatoses ; Neurofibromatosis 1

Phakomatosis pigmentovascularis characterized by the association of cutaneous hemangioma and pigmentary nevi was first recognized as a syndrome by Ota in 1947. We describe herein a case of phakomatosis pigmentovascularis alsoiated with ocular abnormalities in a 22-year-old female. According to Hasegawas criteria, this case is lassified as type lIb.
Female ; Hemangioma ; Humans ; Neurocutaneous Syndromes* ; Nevus ; Stomach Neoplasms ; Young Adult