1.Phacomatosis Pigmentokeratotica.
Soo Yuhl CHAE ; Hyun Bo SIM ; Yong Hyun JANG ; Weon Ju LEE ; Do Won KIM ; Seok Jong LEE
Korean Journal of Dermatology 2016;54(6):489-490
No abstract available.
Neurocutaneous Syndromes*
2.Phacomatosis Pigmentokeratotica.
Soo Yuhl CHAE ; Hyun Bo SIM ; Yong Hyun JANG ; Weon Ju LEE ; Do Won KIM ; Seok Jong LEE
Korean Journal of Dermatology 2016;54(6):489-490
No abstract available.
Neurocutaneous Syndromes*
3.Phacomatosis Pigmentovascularis Type Vb in a Three-Year Old Boy.
Hee Jin JUN ; So Min KIM ; Sang Hyun CHO ; Jeong Deuk LEE ; Hei Sung KIM
Annals of Dermatology 2015;27(3):353-354
No abstract available.
Humans
;
Male
;
Neurocutaneous Syndromes*
4.A Case of Phacomatosis Pigmentovascularis Type IIa in a Korean Infant.
Jae Won HA ; Ji Eun HAHM ; So Eun PARK ; Jin Yong LEE ; Chul Woo KIM ; Sang Seok KIM
Annals of Dermatology 2017;29(5):638-639
No abstract available.
Humans
;
Infant*
;
Neurocutaneous Syndromes*
5.Encephalocraniocutaneous Lipomatosis without Neurologic Anomalies.
Dae Hun KIM ; Seung Bae PARK ; Young LEE ; Myung IM ; Young Joon SEO ; Si Hwan CHOI ; Jeung Hoon LEE
Annals of Dermatology 2012;24(4):476-478
No abstract available.
Eye Diseases
;
Lipomatosis
;
Neurocutaneous Syndromes
6.Collision Tumor of Meningioma and Anaplastic Astrocytoma.
Jin Yell PARK ; Kyung Sik SEOK ; Jae Hoon CHO ; Dong Gee KANG ; Sang Chul KIM
Journal of Korean Neurosurgical Society 2001;30(11):1328-1331
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
7.A Case of Phakomatosis Pigmentovascularis Associated with Ocular Abnormalities.
Kwang Rak KIM ; Seung Hee LEE ; Han Young WANG ; Ho Suk SUNG
Korean Journal of Dermatology 1994;32(6):1072-1076
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
8.A Case of Tuberous Sclerosis with Hemimegalencephaly.
Yoon Jung LEE ; Eun Hye LEE ; Min Hee JUNG ; Mi Sun YUM ; Tae Sung KO
Journal of the Korean Child Neurology Society 2009;17(2):231-236
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
9.Breast Cancer in Three Women Associated with Von Recklinghausen's Disease.
Hee Jeong LEE ; Yong Soon CHUN ; Nan Joo LEE ; Hyub Sang LEE ; Tae Hyun KIM ; Hye Kyoung YOON ; Sang Hyo KIM
Journal of the Korean Surgical Society 2008;74(3):217-221
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