neurocutaneous syndromes

Summary

Summary: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.

Top Publications

  1. ncbi Neurocutaneous syndromes
    Dina Dahan
    Departments of Pediatics and Neurology, Michigan State University, Kalamazoo Center for Medical Studies, Kalamazoo, Michigan 49008 1284, USA
    Adolesc Med 13:495-509. 2002
  2. ncbi Neurocutaneous syndromes: behavioral features
    Charles M Zaroff
    Comprehensive Epilepsy Center, New York University, 403 East 34th Street, New York, NY 10016, USA
    Epilepsy Behav 7:133-42. 2005
  3. ncbi Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach
    Taro Kono
    Department of Plastic and Reconstructive Surgery, Tokyo Women s Medical University, Tokyo, Japan
    Dermatol Surg 29:642-6. 2003
  4. ncbi Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi--results from the NYU-LCMN registry
    E K Hale
    Oncology Section, Skin and Cancer Unit, New York University Medical Center, 550 First Avenue, H100, New York, NY 10016, USA
    Br J Dermatol 152:512-7. 2005
  5. ncbi Asymptomatic neurocutaneous melanocytosis in patients with large congenital melanocytic nevi: a study of cases from an Internet-based registry
    Anna Liza C Agero
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10022, USA
    J Am Acad Dermatol 53:959-65. 2005
  6. ncbi Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis
    A Torrelo
    Department of Dermatology, Hospital del Nino Jesus, Menendez Pelayo 65, 28009 Madrid, Spain
    Br J Dermatol 148:342-5. 2003
  7. ncbi Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes
    V A Kinsler
    Department of Dermatology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK
    Br J Dermatol 160:143-50. 2009
  8. ncbi Phacomatosis pigmentovascularis revisited and reclassified
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Arch Dermatol 141:385-8. 2005
  9. ncbi Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome
    Lindsey B Finklea
    Department of Dermatology, Eastern Virginia Medical School, Norfolk, Virginia 23507, USA
    Pediatr Dermatol 27:303-5. 2010
  10. ncbi Consensus Statement on Diagnostic Criteria for PHACE Syndrome
    Denise Metry
    Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA
    Pediatrics 124:1447-56. 2009

Detail Information

Publications233 found, 100 shown here

  1. ncbi Neurocutaneous syndromes
    Dina Dahan
    Departments of Pediatics and Neurology, Michigan State University, Kalamazoo Center for Medical Studies, Kalamazoo, Michigan 49008 1284, USA
    Adolesc Med 13:495-509. 2002
    b>Neurocutaneous syndromes are congenital or hereditary conditions that have many features in common: hereditary transmission, involvement of organs of ectodermal origin (nervous system, eyeball, retina, and skin), slow evolution of lesions ..
  2. ncbi Neurocutaneous syndromes: behavioral features
    Charles M Zaroff
    Comprehensive Epilepsy Center, New York University, 403 East 34th Street, New York, NY 10016, USA
    Epilepsy Behav 7:133-42. 2005
    b>Neurocutaneous syndromes are disorders characterized by a neurological abnormality and cutaneous manifestations. Three of the more common neurocutaneous syndromes are Sturge-Weber syndrome, tuberous sclerosis, and neurofibromatosis...
  3. ncbi Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach
    Taro Kono
    Department of Plastic and Reconstructive Surgery, Tokyo Women s Medical University, Tokyo, Japan
    Dermatol Surg 29:642-6. 2003
    ..Phacomatosis pigmentovascularis (PPV) consists of a capillary malformation with a variety of melanocytic lesions, which involve various regions of the body and are difficult to treat with conventional therapeutic tools...
  4. ncbi Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi--results from the NYU-LCMN registry
    E K Hale
    Oncology Section, Skin and Cancer Unit, New York University Medical Center, 550 First Avenue, H100, New York, NY 10016, USA
    Br J Dermatol 152:512-7. 2005
    ....
  5. ncbi Asymptomatic neurocutaneous melanocytosis in patients with large congenital melanocytic nevi: a study of cases from an Internet-based registry
    Anna Liza C Agero
    Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10022, USA
    J Am Acad Dermatol 53:959-65. 2005
    ..We sought to determine prevalence of asymptomatic NCM, and current application of MRI as a screening tool...
  6. ncbi Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis
    A Torrelo
    Department of Dermatology, Hospital del Nino Jesus, Menendez Pelayo 65, 28009 Madrid, Spain
    Br J Dermatol 148:342-5. 2003
    ..We found only one previous similar case in a textbook, and we support the classification of this condition as phacomatosis pigmentovascularis type V...
  7. ncbi Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes
    V A Kinsler
    Department of Dermatology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK
    Br J Dermatol 160:143-50. 2009
    ..The aetiology of congenital melanocytic naevi (CMNs) is unknown...
  8. ncbi Phacomatosis pigmentovascularis revisited and reclassified
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Arch Dermatol 141:385-8. 2005
    ....
  9. ncbi Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome
    Lindsey B Finklea
    Department of Dermatology, Eastern Virginia Medical School, Norfolk, Virginia 23507, USA
    Pediatr Dermatol 27:303-5. 2010
    ..To the best of our knowledge, this is the second infantile case meeting diagnostic criteria for systemic phacomatosis pigmentovascularis type IIb, Sturge-Weber syndrome and Klippel-Trenaunay syndrome in the English language literature...
  10. ncbi Consensus Statement on Diagnostic Criteria for PHACE Syndrome
    Denise Metry
    Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA
    Pediatrics 124:1447-56. 2009
    ..This consensus statement was thus developed to establish diagnostic criteria for PHACE syndrome...
  11. ncbi Complex aortic coarctation and PHACE syndrome
    Fredy Prada
    Servicio de Cardiologia, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain
    Rev Esp Cardiol 63:1367-70. 2010
    ..Surgical treatment was also complex. Prognosis in this condition depends primarily on cardiovascular and cerebral artery complications associated with the syndrome...
  12. ncbi Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis
    Vijay Ramaswamy
    Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Dev Med Child Neurol 54:563-8. 2012
    ..We sought to define the spectrum of central nervous system abnormalities in children with neurocutaneous melanocytosis...
  13. ncbi Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association
    Beth A Drolet
    Department of Pediatrics, Medical College of Wisconsin, Children s Hospital of Wisconsin, Milwaukee, Wisconsin, USA
    Pediatrics 117:959-64. 2006
    ....
  14. ncbi A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications
    D W Metry
    Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 140:975-86. 2006
    ..Eighty-eight percent were female, a finding which has been noted in multiple other reports. Further research is needed to determine possible etiologies, optimal evaluation, and outcomes...
  15. ncbi Embryology of the neural crest: its inductive role in the neurocutaneous syndromes
    Harvey B Sarnat
    Department of Pediatrics Neurology, University of Calgary, Faculty of Medicine, Alberta Children s Hospital, Calgary, AB, Canada
    J Child Neurol 20:637-43. 2005
    ..In the neurocutaneous syndromes, diverse features result from abnormal neural crest differentiation, providing a more encompassing ..
  16. ncbi Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosis
    F Cultrera
    Division of Neurosurgery, Garibaldi Hospital, Catania, Italy
    Minerva Pediatr 56:219-22. 2004
    ..The patient underwent a cerebrospinal fluid (CSF) shunt procedure due to marked tetraventricular hydrocephalus that was not present at birth. The need for close and multidisciplinary follow-up of these patients is stressed...
  17. ncbi Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes
    H V Vinters
    UCLA Medical Center, Department of Pathology and Laboratory Medicine, Brain Research Institute and Mental Retardation Research Center, Neuropsychiatric Institute, Los Angeles, CA 90095 1732, USA
    Dev Neurosci 21:248-59. 1999
    ..Other recently cloned genes associated with cortical malformations encompassed by the term CD are briefly described...
  18. ncbi [Neurocutaneous melanosis and congenital gigantic pigmented nevi in the light of current knowledge]
    Helena Rotsztejn
    Poradnia Dermatologiczna Przychodni Specjalistycznej Instytutu Centrum Zdrowia Matki Polki w łodzi kierownik dr med P Woiniak 2Klinika Neurologii Instytutu Centrum Zdrowia Matki Polki w todzi kierownik dr hab med J Wendorff
    Pol Merkur Lekarski 18:105-6. 2005
    ..It is necessary to remember about early planning of skin changes removal which is the cause of lowering risk of malignant melanoma...
  19. ncbi A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations
    Sascha Vermeer
    Department of Human Genetics, University Medical Centre Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Clin Dysmorphol 14:203-6. 2005
    ..This report emphasizes that many different combinations of features may be seen in PHACES syndrome...
  20. ncbi Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsions
    Ahmad A Alrobaee
    Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Int J Dermatol 43:145-7. 2004
  21. ncbi Neurocutaneous melanosis
    Fernando Burstein
    Center for Craniofacial Disorders, Children s Healthcare of Atlanta, Georgia, USA
    J Craniofac Surg 16:874-6. 2005
    ..The prognosis of patients with symptomatic NCM is poor...
  22. ncbi Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis
    Holly H Ardinger
    Section of Medical Genetics and Molecular Medicine, Children s Mercy Hospitals and Clinics, Kansas City, Missouri, USA
    Am J Med Genet A 143:2959-62. 2007
    ..Here, we report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology...
  23. ncbi Brain anomalies in encephalocraniocutaneous lipomatosis
    Ute Moog
    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
    Am J Med Genet A 143:2963-72. 2007
    ..These data provide evidence that the brain anomalies in ECCL are not primary brain malformations but arise secondary to a mesenchymal defect affecting mostly neural crest derivatives...
  24. ncbi Neurocutaneous melanosis presenting with hydrocephalus. Case report and review of the literature
    Frank L Acosta
    Department of Neurological Surgery, University of California, San Francisco, California 94143 0112, USA
    J Neurosurg 102:96-100. 2005
    ..Our case illustrates to the neurosurgeon the importance of recognizing the likelihood of underlying pathological conditions of the central nervous system in a child with cutaneous melanocytic nevi...
  25. ncbi Diffuse leptomeningeal hyperintensity on fluid-attenuated inversion recovery MR images in neurocutaneous melanosis
    Masato Hayashi
    Department of Radiology, Mie University School of Medicine, Tsu, Mie, Japan
    AJNR Am J Neuroradiol 25:138-41. 2004
    ..We present a case of NCM that showed diffuse leptomeningeal hyperintensity on FLAIR images. This FLAIR finding may be a clue to the detection of leptomeningeal abnormalities in NCM...
  26. ncbi Neurocutaneous melanosis with associated Dandy-Walker complex
    Adrian Caceres
    Neurosurgery Division, Children s Memorial Hospital, 2300 Children s Plaza, P O Box 28, Chicago, IL, USA
    Childs Nerv Syst 22:67-72. 2006
    ..Endoscopic fenestration and biopsy of the cyst wall was performed without evidence of abnormal melanin deposits in the meninges...
  27. ncbi Progressive brainstem compression in an infant with neurocutaneous melanosis and Dandy-Walker complex following ventriculoperitoneal shunt placement for hydrocephalus. Case report
    Shearwood McClelland
    Department of Neurosurgery, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
    J Neurosurg 107:500-3. 2007
    ..Although the prognosis is poor, early neurosurgical involvement in these patients may provide tissue diagnosis and the potential for decompression if the process is caught early in its course...
  28. ncbi Neurocutaneous melanosis
    F Di Rocco
    Section of Pediatric Neurosurgery, Institute of Neurosurgery, Catholic University Medical School, Largo Gemelli 8, 00168, Rome, Italy
    Childs Nerv Syst 20:23-8. 2004
    ..This syndrome is believed to result from an error in the morphogenesis of embryonal neuroectoderm...
  29. ncbi SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity
    Joseph Lam
    Rady Children s Hospital, San Diego, California, USA
    J Am Acad Dermatol 58:884-8. 2008
    ....
  30. ncbi Neurocutaneous melanosis with transposition of the great arteries and renal agenesis
    Nilgun Koksal
    Department of Pediatrics, Uludag University, Faculty of Medicine, Bursa, Turkey
    Pediatr Dermatol 20:332-4. 2003
    ..Transposition of the great arteries, which has never been reported in NCM, may be an incidental finding. We present a case of NCM associated with agenesis of the right kidney and transposition of the great arteries...
  31. ncbi Do cutaneous hemangiomas and internal vascular anomalies follow the same evolution?
    I Pascual-Castroviejo
    Pediatric Neurology Service, University Hospital La Paz, Madrid, Spain
    Neurology 61:140-1. 2003
  32. ncbi Three unusual neuropathologic-related causes of sudden death
    Dennis J Chute
    Dutchess County Medical Examiner s Office, 387 Main Street, Poughkeepsie, NY 12601, USA
    J Forensic Sci 53:734-8. 2008
    ....
  33. ncbi Neurocutaneous melanosis
    Hanspaul S Makkar
    Department of Dermatology and Pediatrics, University of California, San Francisco, CA, USA
    Semin Cutan Med Surg 23:138-44. 2004
    ..Approximately half of NCM patients develop CNS melanoma. The prognosis of symptomatic patients remains poor...
  34. ncbi Dandy Walker
    Olivier Klein
    J Neurosurg 102:353; author reply 353-4. 2005
  35. ncbi Large or multiple congenital melanocytic nevi: occurrence of cutaneous melanoma in 1008 persons
    Bari Joan Bett
    J Am Acad Dermatol 52:793-7. 2005
    ..There is a dearth of information regarding the occurrence of cutaneous melanoma in a large cohort of persons with large congenital melanocytic nevi (LCMN) or multiple congenital melanocytic nevi (MCMN)...
  36. ncbi Sudden change of a large congenital melanocytic nevus to neurocutaneous melanosis
    Choong Jae Lee
    Department of Plastic and Reconstructive Surgery, College of Medicine, Inha University, Incheon, South Korea
    J Craniofac Surg 17:1216-8. 2006
    ..We observed a case of NCM suddenly developing in a large congenital melanocytic nevi patient. With this case, the NCM had developed within six months and was aggravated during the subsequent six months...
  37. ncbi Neurocutaneous melanosis and congenital melanocytic nevus in the head
    P Miranda
    Department of Pediatric Neurosurgery and Neuroradiology, Hospital 12 de Octubre, Madrid, Spain
    Pediatr Neurosurg 41:109-11. 2005
  38. ncbi Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?
    Alasdair G W Hunter
    Genetics Patient Service Unit, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 140:709-26. 2006
    ..In the absence of anomalies in those systems, or if histopathology or appropriate imaging is unavailable, the diagnosis in some cases will continue to remain uncertain; this is not an argument for lumping the syndromes...
  39. ncbi Fundus features of a case of neurocutaneous melanosis
    Hayyam Kiratli
    Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey
    Ophthalmic Genet 25:271-6. 2004
    ..These findings also help to strengthen the view that neurocutaneous melanosis may represent a rare form of phakomatosis...
  40. ncbi Neurocutaneous melanosis associated with Hirschsprung's disease in a male neonate
    Toshihisa Iwabuchi
    Division of Surgery, Children s Research Hospital, Kyoto Prefectural University of Medicine, Kyoto 602 0841, Japan
    J Pediatr Surg 40:E11-3. 2005
    ..The association of developmental disorders of melanocytes and enteric ganglia, both of which originated from the neural crest, suggested the presence of mutual pathogenetic factors in the patient...
  41. pmc Parenchymal neurocutaneous melanosis in association with intraventricular dermoid and Dandy-Walker variant: a case report
    Young Joo Kim
    Department of Radiology, The Catholic University of Korea, College of Medicine, Gyeonggi Do, Korea
    Korean J Radiol 7:145-8. 2006
    ..We report here on the CT and MR imaging findings of an unusual case of NCM that was associated with intraventricular dermoid and Dandy-Walker malformation...
  42. ncbi An unusual case of neurocutaneous melanosis
    Daniela Oliveira de Andrade
    Setor de Neurofisiologia Clinica, Hôpital Sarah, Salvador BA, Brazil
    Epileptic Disord 6:145-52. 2004
    ..Her evolution raises the question of condidency to surgical treatment...
  43. ncbi Otolaryngologic manifestations of PHACE syndrome
    Dana S Smith
    Department of Otolaryngology Head and Neck Surgery, Doernbecher Children s Hospital, Oregon Health Science University, 3181 S W Sam Jackson Park Road, Portland, OR 97239 3098, USA
    Int J Pediatr Otorhinolaryngol 68:1445-50. 2004
    ..PHACE syndrome poses a significant potential for airway compromise from hemangiomas, which may require multimodality treatment...
  44. ncbi [Neurocutaneous melanosis and malignant melanoma]
    U Tartler
    Hautklinik der Heinrich Heine Universität, Dusseldorf
    Hautarzt 55:971-4. 2004
    ..In spite of a variety of therapeutic attempts (surgery, radiation therapy and chemotherapy) he followed a rapidly progressive, lethal course with increased intracranial pressure, hydrocephalus and spinal metastases...
  45. ncbi [A four-month-old infant showing multiple melanocystic nevi and epileptic convulsion]
    N Saito
    No To Hattatsu 39:85-6. 2007
  46. ncbi Neurocutaneous melanosis with hydrocephalus: report of one case
    Chang Wei Hsueh
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    Acta Neurol Taiwan 13:29-33. 2004
    ..His condition was much improved after ventriculoperitoneal shunting. Even though patients with NCM and hydrocephalus may have normal growth and development after shunt insertion, close follow-up for these patients is still warranted...
  47. ncbi Neurocutaneous melanosis associated with autoimmune diabetes mellitus
    Kevin R Joseph
    Child Neurology Section, Madigan Army Medical Center, Tacoma, WA, USA
    Neurology 68:1862-3. 2007
  48. ncbi Phacomatosis pigmentovascularis type IIIb
    Dilek Seckin
    Department of Dermatology, Marmara University School of Medicine, Istanbul, Turkey
    Int J Dermatol 46:960-3. 2007
    ..Including the present case, a total of eight cases of PPV type IIIb have been reported to date. The case is discussed in view of the new classification proposed by Happle...
  49. ncbi [Melanocytic meningitis and large congenital melanocytic naevus: neurocutaneous melanosis]
    L Feuillet
    Service de Neurologie, CHU La Timone, Marseille
    Rev Neurol (Paris) 159:435-9. 2003
    ..Lumbar puncture, cerebral scanography and MRI may help diagnosis, but only histological examination can prove neurocutaneous melanosis, more often by necropsy because of poor prognosis...
  50. ncbi Giant congenital melanocytic nevi
    Jugpal S Arneja
    Section of Plastic Surgery, Children s Hospital of Michigan and Wayne State University, Detroit, MI, USA
    Plast Reconstr Surg 120:26e-40e. 2007
    ..2. Know the natural history and potential complications associated with a giant congenital melanocytic nevus. 3. Outline the nonsurgical and surgical options available to treat a giant congenital melanocytic nevus...
  51. ncbi Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man
    Andreas Wollenberg
    Department of Dermatology, Ludwig Maximilian University, Munich, Germany
    Acta Derm Venereol 82:55-7. 2002
    ..In our patient, only slight hyperhidrosis was present, whereas all other associated anomalies could be excluded...
  52. ncbi Neurocutaneous melanosis with epilepsy: report of one case
    W H Wen
    Department of Pediatrics, National Taiwan University Hospital, Chung-Shan South Road, Taipei 100, Taiwan
    Acta Paediatr Taiwan 42:108-10. 2001
    ..We suggest that infants with large or multiple congenital melanocytic nevi should receive regular clinical check-up and brain imaging to exclude the possibility of central nervous system lesions...
  53. ncbi Neurocutaneous melanosis: radiological-pathological correlation
    P Peretti-Viton
    Department of Neuroradiology, La Timone Hospital, Boulevard Jean Moulin, 13385 Marseille, France
    Eur Radiol 12:1349-53. 2002
    ..Besides, we discuss differential diagnoses and interest of MRI for early diagnosis...
  54. ncbi Non-allelic twin spotting under attack
    Antonio Torrelo
    Eur J Dermatol 14:75; author reply 76. 2004
  55. pmc Phacomatosis pigmentokeratotica
    Virginia A Hill
    Department of Dermatology, Frimley Park Hospital, Camberley GU16 5UJ, London, UK
    J R Soc Med 96:30-1. 2003
  56. ncbi Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome
    Kim E Brown
    Department of Ophthalmology, University of Illinois Chicago, Chicago, IL, USA
    J AAPOS 7:148-9. 2003
    ..In this short report, a case of ECCL is used to illustrate the clinical manifestations of neurocutaneous syndromes.
  57. ncbi Congenital melanocytic nevi: treatment modalities and management options
    Ashfaq A Marghoob
    Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Semin Cutan Med Surg 22:21-32. 2003
    ..Organizational flow diagrams are presented to help clinicians in managing patients with different sized congenital melanocytic nevi...
  58. ncbi [Managing children with neurofibromatosis type 1: what should we look for?]
    Cristina L Martins
    Unidade de Neuropediatria e Desenvolvimento, Centro de Desenvolvimento da Criança Torrado da Silva, Servico de Pediatria, Hospital Garcia de Orta, Almada
    Acta Med Port 20:393-400. 2007
    ..NF1 is a variable condition concerning its clinical manifestations. It may also present different complications through life--a capital issue to pediatric management...
  59. ncbi Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi children
    Mustafa A Salih
    Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia
    Saudi Med J 27:S53-60. 2006
    ..To explore the role of and report on congenital and genetic cerebrovascular anomalies as risk factors for stroke in a prospective and retrospective cohort of Saudi children...
  60. ncbi [The main etiopathogenic mechanisms of neurocutaneous diseases]
    F J Vicente
    , , Facultadde Medicina, Universidad de Navarra, Pamplona,
    Rev Neurol 25:S214-21. 1997
    b>Neurocutaneous syndromes constitute a large and complex group of diseases in which recent medical advances, particularly in the field of molecular biology and genetics, have afforded a deeper understanding of the way in which these ..
  61. ncbi Hypomelanosis of Ito and Moyamoya disease
    Mubeen F Rafay
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada
    J Child Neurol 20:924-6. 2005
    ..However, its association with other neurocutaneous syndromes is infrequently reported...
  62. ncbi [Precocious puberty and von Recklinghausen's disease]
    Ewa Barg
    Z Katedry i Kliniki Endokrynologii Wieku Rozwojowego Akademii Medycznej we Wrocławiu
    Wiad Lek 59:261-4. 2006
    Von Recklinghausen's disease belongs to a group of neurocutaneous syndromes and is characterised by skin, nerve and bone abnormalities. We present a case of von Recklinghausen's disease and precocious puberty in 7-year-old boy...
  63. ncbi Pathological and molecular biological aspects of the renal epithelial neoplasms, up-to-date
    Yoji Nagashima
    Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Pathol Int 54:377-86. 2004
    ..This review aims to present recent classification of renal parenchymal neoplasms based on their molecular biological characteristics, and future problems yet to be clarified...
  64. ncbi [Neurocutaneous syndromes with vascular alterations]
    I De Felipe
    , , Pamplona,
    Rev Neurol 25:S250-8. 1997
    ....
  65. ncbi Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience
    J M Boulanger
    Division of Pediatric Neurology HSJ, Department of Pediatrics, Montreal University, Montreal, QC, Canada
    Can J Neurol Sci 32:225-31. 2005
    ..To date, few pediatric series of neurofibromatosis type 1 (NF-1) have been described in the literature even though it is the most frequently encountered phakomatosis...
  66. ncbi Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature
    Montse Fernandez-Guarino
    Department of Dermatology, Ramon y Cajal Hospital, Madrid, Spain
    J Am Acad Dermatol 58:88-93. 2008
    ..Phakomatosis pigmentovascularis (PPV) is a rare syndrome characterized by the association of a vascular nevus with an extensive pigmentary nevus...
  67. ncbi [Genetic factors related to intracranial arteriovenous malformations]
    R F Moussa
    Service de Neurochirurgie, Hopital Hotel Dieu, Achrafieh Beyrouth, Liban
    Neurochirurgie 47:154-7. 2001
    ..Sturge-Weber disease and Wyburn-Mason syndrome best illustrate this category. A review of these categories will help in a better understanding of some genetic issues related to cerebral arteriovenous malformations...
  68. ncbi Sturge-Weber syndrome accompanied with multiple congenital intracranial lesions
    R Ergun
    Department of Neurosurgery, Abant Izzet Baysal University, Bolu, Turkey
    Acta Neurochir (Wien) 149:829-30; discussion 830. 2007
    Sturge-Weber syndrome is one of the neurocutaneous syndromes. It is a rare, nonfamiliar disease that is characterized by facial port-wine stain, leptomeningeal angiomatosis, choroidal angioma, buphthalmos, intracranial calcification, ..
  69. ncbi [Pituitary adenoma associated with neurofibromatosis: case report]
    M Nakajima
    Department of Neurosurgery, Shiga University of Medical Science
    Nippon Geka Hokan 59:278-82. 1990
    ..The most common combination is association of glioma and meningioma, and it is probably incidental coexistence due to their high frequency.(ABSTRACT TRUNCATED AT 250 WORDS)..
  70. ncbi Neurofibromatosis type 1 and infantile spasms
    Martino Ruggieri
    Institute of Neurological Science, National Research Council, Viale R Margherita, 6, Catania, 95124, Italy
    Childs Nerv Syst 25:211-6. 2009
    ..By contrast, its prevalence and outcome are well characterised in the setting of other neurocutaneous disorders (e.g. tuberous sclerosis)...
  71. ncbi Hypomelanosis of Ito: clinical syndrome or just phenotype?
    M Ruggieri
    Department of Paediatrics, University of Catania, Italy
    J Child Neurol 15:635-44. 2000
    ....
  72. ncbi [Causes of symptomatic epilepsy in two first years of life children hospitalized in 2006-2007 years]
    Sławomir Kroczka
    Katedra Neurologii Dzieci i Młodziezy i Klinika Neurologii Dzieciecej, Uniwersytet Jagielloński Collegium Medicum, Krakow
    Przegl Lek 65:745-50. 2008
    ..Epilepsy in two first years of life needs constant attention due to diagnostic and therapeutic difficulties...
  73. ncbi Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndrome
    Mm Rahman
    Department of Paediatric Neurology, Bangabandhu Sheikh Mujib Medical University BSMMU, Shahabag, Dhaka, Bangladesh
    Mymensingh Med J 17:78-81. 2008
    ....
  74. ncbi Chiari Type I malformation and syringomyelia in unrelated patients with blepharophimosis. Report of two cases
    P Paquis
    Service de Neurochirurgie, Hopital Pasteur, Nice, France
    J Neurosurg 89:835-8. 1998
    ..To the authors' knowledge, such a combination has never been described. Perhaps the possible involvement of a genetic component in some cases of Chiari Type I-associated syringomyelia will someday be debated...
  75. ncbi Malignant hypertension in a child with phakomatosis pigmentovascularis type II b
    Y Kanaheswari
    Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia
    Acta Paediatr 97:1589-91. 2008
    ..Sturge-Weber Syndrome (SWS) with concomitant glaucoma, Klippel-Trenaunay Syndrome (KTS) and naevus of Ota have been frequently described, but there have only been two case reports with asymptomatic renal anomalies...
  76. ncbi Infantile spasms in the setting of Sturge-Weber syndrome
    Massimo Barbagallo
    Department of Pediatrics, University of Catania, Catania, Italy
    Childs Nerv Syst 25:111-8. 2009
    ..By contrast, still there is no study describing the natural history of IS in the setting of Sturge-Weber syndrome (SWS)...
  77. ncbi Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective
    Rosalie E Ferner
    Department of Neurology, Guy s and St Thomas Hospitals, Guy s Hospital, London, UK
    Lancet Neurol 6:340-51. 2007
    ..I also examine the current views on the pathogenesis of these neurocutaneous disorders in the wake of advances in molecular genetics and the development of mouse models of disease...
  78. pmc Pheochromocytoma associated with neurofibromatosis type 1: concepts and current trends
    George N Zografos
    Third Department of Surgery, G, Gennimatas Hospital, Athens, Greece
    World J Surg Oncol 8:14. 2010
    ..Neurofibromatosis Type 1(NF-1) has autosomal dominant inheritance with complete penetrance, variable expression and a high rate of new mutation. Pheochromocytoma occurs in 0.1%-5.7% of patients with NF-1...
  79. ncbi [Dyscromic neurocutaneous syndromes]
    M A Sola Casas
    Servicio de Dermatologia, , Barcelona,
    Rev Neurol 25:S259-64. 1997
    Discromic neurocutaneous syndromes are an heterogeneous group of genetic diseases which associate pigmentary anomalies to nervous system disturbances...
  80. ncbi [Endogenous potentials evoked by acoustic stimulus in children with idiopathic headache--preliminary report]
    Małgorzata Steczkowska-Klucznik
    Klinika Neurologii Dzieciecej i Pracownia, Neurofizjologii Kliniki Neurologii Dzieciecej, Collegium Medicum, Uniwersytetu Jagiellonskiego, Krakow
    Przegl Lek 61:1240-3. 2004
    ..The role of this element of neurophysiological characteristics is debated in migraine, pato-genetically undefined, and other primary headaches...
  81. ncbi [Keratotic neurocutaneous syndromes]
    J Tercedor
    , Hospital Universitario Virgen de las Nieves, Granada,
    Rev Neurol 25:S238-42. 1997
    ..DEVELOPMENT: Classic keratotic neurocutaneous syndromes including Sjögren-Larsson syndrome, trichotyodystrophy, KID (keratitis, ichthyosis and deafness) ..
  82. ncbi Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma
    Matthias R Mühler
    Department of Radiology, Charite Universitatsmedizin Berlin, Campus Mitte, Chariteplatz 1, 10117, Berlin, Germany
    Pediatr Radiol 37:467-74. 2007
    ..Tuberous sclerosis complex (TSC) is an autosomal dominant phakomatosis associated with intracardiac rhabdomyomas...
  83. ncbi Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito
    K Muhammed
    Department of Dermatology and Venereology, Medical College, Kozhikode, Kerala, India
    Indian J Dermatol Venereol Leprol 73:43-5. 2007
    Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare...
  84. ncbi [Autism, epilepsy and mitochondrial disease: points of contact]
    J J García-Peñas
    Sección de Neurología Pediátrica, Hospital Infantil Universitario Nino Jesus, Madrid, Espana
    Rev Neurol 46:S79-85. 2008
    ....
  85. ncbi A rare case of massive NF1 with invasion of entire spinal axis by neurofibromas: case report
    Feyzi Birol Sarica
    Baskent University Faculty of Medicine, Neurosurgery Department, Adana, Turkey
    Turk Neurosurg 18:99-106. 2008
    ..We discuss the patient's diagnosis, treatment, and prognosis, and relate this case to the literature...
  86. ncbi Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis
    Charis Eng
    Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA
    Ann N Y Acad Sci 968:213-21. 2002
    ..Ectopic expression studies in vitro have borne out the importance of PTEN in the pathogenesis of epithelial thyroid neoplasias...
  87. ncbi Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification
    A Di Landro
    Clinica Dermatologica V, Universita degli Studi di Milano, Bergamo General Hospital Bergamo
    Pediatr Dermatol 16:25-30. 1999
    ....
  88. ncbi Ganglioglioma occurring with glioblastoma multiforme: separate lesions or the same lesion?
    Qualls E Stevens
    Bromenn Regional Medical Center, Department of Surgery, Section of Neurosurgery, Normal, IL, USA
    Clin Neurol Neurosurg 109:195-9. 2007
    ..For benign gangliogliomas, gross total resection can be curative; however, more aggressive variants may be resistant to multimodal therapies...
  89. ncbi Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndrome
    Jesús Eirís-Puñal
    Servicio de Neuropediatria, Hospital Clinico Universitario, Santiago de Compostela, Spain
    J Child Neurol 17:219-22. 2002
    ..Epilepsy is rare in this syndrome but as in other neurocutaneous syndromes (e.g...
  90. ncbi [Cerebral magnetic resonance in the study of West syndrome]
    S Galicchio
    , , Garrahan, Buenos Aires, Argentina
    Rev Neurol 28:685-7. 1999
    ....
  91. ncbi Phakomatosis pigmentovascularis
    D Van Gysel
    Subdivision of Pediatric Dermatology, Sophia Children's Hospital/University Hospital, Rotterdam, The Netherlands
    Pediatr Dermatol 13:33-5. 1996
    ..This second patient suggests that the association might be more common. Additional reports will indicate if such an association is more frequent than is now assumed...
  92. ncbi Clinical examination of brachial and pelvic plexus tumors
    Shelly Lwu
    Division of Neurosurgery, Department of Clinical Neurosciences, University of Calgary, Alberta, Canada
    Neurosurg Focus 22:E5. 2007
    ..An irregular, firm, and immobile mass suggests a malignant lesion. Complete and accurate clinical information must be gathered to pinpoint the anatomical localization of the lesion and formulate a differential diagnosis...
  93. ncbi Klippel-Trenaunay-Weber syndrome and intramedullary cervical cavernoma: a very rare association. Case report
    Angelo Pichierri
    Department of Neurological Sciences Neurosurgery, University of Rome La Sapienza, Rome, Italy
    Surg Neurol 66:203-6; discussion 206. 2006
    ..As the pathologic aspect of KTWS arises from the site in which malformations occur, the clinical picture varies widely from patients who complain for cosmetic reasons to patients with life-threatening lesions...
  94. ncbi Sudden death and the forensic evaluation of neurocutaneous syndromes
    Lisbeth Jensen
    Discipline of Pathology, The University of Adelaide, Adelaide 5005, Australia
    J Forensic Leg Med 16:369-74. 2009
    ..Such vascular abnormalities may form part of a heterogeneous group of disorders called neurocutaneous syndromes and involve the skin, nervous system and other organ systems...
  95. ncbi [Epithelioid renal angiomyolipoma]
    Igor Azurmendi Arin
    Servicio de Urologia, Hospital de Cruces, Baracaldo, Vizcaya, Espana
    Arch Esp Urol 61:540-3. 2008
    ..To issue the existence of a variety of angiomyolipoma, named epithelioid, with different histological and clinic properties...
  96. ncbi [Demand for neuropediatric services in a general referral hospital. III. Diagnosis]
    J Lopez-Pison
    Sección de Neuropediatría, Hospital Miguel Servet, Zaragoza, Espana
    Rev Neurol 25:1896-905. 1997
    ....
  97. ncbi [Neurocutaneous syndrome with hair alterations]
    F Camacho-Martinez
    Departamento de Dermatologia, Facultad de Medicina, Universidad de Sevilla, Espana
    Rev Neurol 25:S243-9. 1997
    There are multiple neurocutaneous syndromes that may show hair alterations such as the interglabellar peak or 'widow's peak', which is an alteration of the hair implantation, in addition to the genohypotrichosis, hypertrichosis and hair ..
  98. pmc A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
    Eli Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Am J Hum Genet 77:242-51. 2005
    b>Neurocutaneous syndromes represent a vast, largely heterogeneous group of disorders characterized by neurological and dermatological manifestations, reflecting the common embryonic origin of epidermal and neural tissues...
  99. ncbi [Klippel-Trenaunay syndrome associated with antithrombin III deficiency]
    M Grira
    Service de Neurologie, CHU de Sahloul, 4054 Sousse, Tunisie
    Rev Neurol (Paris) 164:855-8. 2008
    ..The biological assessment revealed antithrombin III deficiency. Although rare, antithrombin III deficiency should be kept in mind in KTS patients with neurological involvement...
  100. ncbi [Endogenous and exogenous evoked potentials in the most common neurologic syndromes during development]
    M Zgorzalewicz
    Katedra i Klinika Neurologii Wieku Rozwojowego Akademii Medycznej im K Marcinkowskiego w Poznaniu
    Przegl Lek 58:16-21. 2001
    ..P 300 is evaluated in relation to syndromes and diseases of developmental age, mostly in epilepsy, headaches, tumours, CVS traumas and minimal brain dysfunction...
  101. ncbi Klippel-Trenaunay syndrome and cerebral haemangiopericytoma: a potential association
    M S Mathews
    Department of Neurological Surgery, University of California Irvine, Orange, CA, USA
    Acta Neurochir (Wien) 150:399-402; discussion 402. 2008
    ..The lesion was surgically resected and histology showed a Haemangiopericytoma. Thus KTS may be associated with intracranial Haemangiopericytomas, a malignant vascular tumour...

Research Grants7

  1. Allelic Expression Imbalance in Tuberous Sclerosis Complex
    Vinodh Narayanan; Fiscal Year: 2009
    ..This will facilitate selection of TSC patients for earlier and more aggressive treatment protocols, especially as we develop novel drugs that target various aspects of the mTOR or Ras/MAPK signaling pathways. ..
  2. TUBEROUS SCLEROSIS AND ALLIED DISORDERS
    William Johnson; Fiscal Year: 1990
    ..most common (1 in 9,500) dominant disorders and one of the most important inherited tumor syndromes and neurocutaneous syndromes. New findings in linkage mapping and cell biology of TS have made this a rapidly moving field of great ..
  3. CHRONOBIOLOGY OF PARTIAL EPILEPSY
    Mark Quigg; Fiscal Year: 2002
    ..In summary, these studies will provide insight into the chronoblological factors that facilitate partial seizure expression and may provide new perspectives into treatments for poorly controlled partial epilepsy. ..
  4. CHARACTERIZATION OF TSC PROTEIN HAMARTIN AND TUBERIN
    Vijaya Ramesh; Fiscal Year: 2005
    ..The information obtained here will elucidate the physiological functions of these tumor suppressors, which will aid in designing better therapies. ..
  5. Effect of vertebral endplate composition on disc health
    Frank Acosta; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  6. 2006 NF Consortium for NF1, NF2 and Schwannomatosis
    Vijaya Ramesh; Fiscal Year: 2006
    ..This will promote to the research community at large the status of NF research, the link with other cancers and neurological disorders and the key barriers to be addressed. [unreadable] [unreadable] [unreadable]..
  7. Genes that deregulate mTOR signaling as candidates for autism spectrum disorders
    Vijaya Ramesh; Fiscal Year: 2008
    ..This project will test whether genes that control mTOR signaling are associated with an increased risk for Autism Spectrum Disorders, and thus has direct relevance to public health. [unreadable] [unreadable] [unreadable] [unreadable]..