Genomes and Genes
Summary: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
Publications233 found, 100 shown here
- Neurocutaneous syndromesDina Dahan
Departments of Pediatics and Neurology, Michigan State University, Kalamazoo Center for Medical Studies, Kalamazoo, Michigan 49008 1284, USA
Adolesc Med 13:495-509. 2002b>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 ..
- Neurocutaneous syndromes: behavioral featuresCharles M Zaroff
Comprehensive Epilepsy Center, New York University, 403 East 34th Street, New York, NY 10016, USA
Epilepsy Behav 7:133-42. 2005b>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...
- Treatment of phacomatosis pigmentovascularis: a combined multiple laser approachTaro 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...
- Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi--results from the NYU-LCMN registryE 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....
- Asymptomatic neurocutaneous melanocytosis in patients with large congenital melanocytic nevi: a study of cases from an Internet-based registryAnna 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...
- Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularisA 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...
- Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomesV 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...
- Phacomatosis pigmentovascularis revisited and reclassifiedRudolf Happle
Department of Dermatology, Philipp University of Marburg, Marburg, Germany
Arch Dermatol 141:385-8. 2005....
- Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndromeLindsey 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...
- Consensus Statement on Diagnostic Criteria for PHACE SyndromeDenise 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...
- Complex aortic coarctation and PHACE syndromeFredy 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...
- Spectrum of central nervous system abnormalities in neurocutaneous melanocytosisVijay 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...
- Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE associationBeth A Drolet
Department of Pediatrics, Medical College of Wisconsin, Children s Hospital of Wisconsin, Milwaukee, Wisconsin, USA
Pediatrics 117:959-64. 2006....
- A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complicationsD 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...
- Embryology of the neural crest: its inductive role in the neurocutaneous syndromesHarvey 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 ..
- Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosisF 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...
- Cortical dysplasia, genetic abnormalities and neurocutaneous syndromesH 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...
- [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...
- 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 malformationsSascha 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...
- Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsionsAhmad A Alrobaee
Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
Int J Dermatol 43:145-7. 2004
- Neurocutaneous melanosisFernando 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...
- Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosisHolly 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...
- Brain anomalies in encephalocraniocutaneous lipomatosisUte 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...
- Neurocutaneous melanosis presenting with hydrocephalus. Case report and review of the literatureFrank 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...
- Diffuse leptomeningeal hyperintensity on fluid-attenuated inversion recovery MR images in neurocutaneous melanosisMasato 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...
- Neurocutaneous melanosis with associated Dandy-Walker complexAdrian 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...
- Progressive brainstem compression in an infant with neurocutaneous melanosis and Dandy-Walker complex following ventriculoperitoneal shunt placement for hydrocephalus. Case reportShearwood 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...
- Neurocutaneous melanosisF 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...
- 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 entityJoseph Lam
Rady Children s Hospital, San Diego, California, USA
J Am Acad Dermatol 58:884-8. 2008....
- Neurocutaneous melanosis with transposition of the great arteries and renal agenesisNilgun 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...
- 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
- Three unusual neuropathologic-related causes of sudden deathDennis J Chute
Dutchess County Medical Examiner s Office, 387 Main Street, Poughkeepsie, NY 12601, USA
J Forensic Sci 53:734-8. 2008....
- Neurocutaneous melanosisHanspaul 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...
- Dandy WalkerOlivier Klein
J Neurosurg 102:353; author reply 353-4. 2005
- Large or multiple congenital melanocytic nevi: occurrence of cutaneous melanoma in 1008 personsBari 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)...
- Sudden change of a large congenital melanocytic nevus to neurocutaneous melanosisChoong 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...
- Neurocutaneous melanosis and congenital melanocytic nevus in the headP Miranda
Department of Pediatric Neurosurgery and Neuroradiology, Hospital 12 de Octubre, Madrid, Spain
Pediatr Neurosurg 41:109-11. 2005
- 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...
- Fundus features of a case of neurocutaneous melanosisHayyam 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...
- Neurocutaneous melanosis associated with Hirschsprung's disease in a male neonateToshihisa 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...
- Parenchymal neurocutaneous melanosis in association with intraventricular dermoid and Dandy-Walker variant: a case reportYoung 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...
- An unusual case of neurocutaneous melanosisDaniela 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...
- Otolaryngologic manifestations of PHACE syndromeDana 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...
- [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...
- [A four-month-old infant showing multiple melanocystic nevi and epileptic convulsion]N Saito
No To Hattatsu 39:85-6. 2007
- Neurocutaneous melanosis with hydrocephalus: report of one caseChang 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...
- Neurocutaneous melanosis associated with autoimmune diabetes mellitusKevin R Joseph
Child Neurology Section, Madigan Army Medical Center, Tacoma, WA, USA
Neurology 68:1862-3. 2007
- Phacomatosis pigmentovascularis type IIIbDilek 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...
- [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...
- Giant congenital melanocytic neviJugpal 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...
- Phacomatosis pigmentokeratotica (Happle) in a 23-year-old manAndreas 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...
- Neurocutaneous melanosis with epilepsy: report of one caseW 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...
- Neurocutaneous melanosis: radiological-pathological correlationP 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...
- Non-allelic twin spotting under attackAntonio Torrelo
Eur J Dermatol 14:75; author reply 76. 2004
- Phacomatosis pigmentokeratoticaVirginia A Hill
Department of Dermatology, Frimley Park Hospital, Camberley GU16 5UJ, London, UK
J R Soc Med 96:30-1. 2003
- Encephalocraniocutaneous lipomatosis: a neurocutaneous syndromeKim 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.
- Congenital melanocytic nevi: treatment modalities and management optionsAshfaq 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...
- [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...
- Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi childrenMustafa 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...
- [The main etiopathogenic mechanisms of neurocutaneous diseases]F J Vicente
, , Facultadde Medicina, Universidad de Navarra, Pamplona,
Rev Neurol 25:S214-21. 1997b>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 ..
- Hypomelanosis of Ito and Moyamoya diseaseMubeen 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...
- [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. 2006Von 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...
- Pathological and molecular biological aspects of the renal epithelial neoplasms, up-to-dateYoji 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...
- [Neurocutaneous syndromes with vascular alterations]I De Felipe
, , Pamplona,
Rev Neurol 25:S250-8. 1997....
- Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experienceJ 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...
- Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literatureMontse 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...
- [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...
- Sturge-Weber syndrome accompanied with multiple congenital intracranial lesionsR Ergun
Department of Neurosurgery, Abant Izzet Baysal University, Bolu, Turkey
Acta Neurochir (Wien) 149:829-30; discussion 830. 2007Sturge-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, ..
- [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)..
- Neurofibromatosis type 1 and infantile spasmsMartino 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)...
- Hypomelanosis of Ito: clinical syndrome or just phenotype?M Ruggieri
Department of Paediatrics, University of Catania, Italy
J Child Neurol 15:635-44. 2000....
- [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...
- Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndromeMm Rahman
Department of Paediatric Neurology, Bangabandhu Sheikh Mujib Medical University BSMMU, Shahabag, Dhaka, Bangladesh
Mymensingh Med J 17:78-81. 2008....
- Chiari Type I malformation and syringomyelia in unrelated patients with blepharophimosis. Report of two casesP 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...
- Malignant hypertension in a child with phakomatosis pigmentovascularis type II bY 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...
- Infantile spasms in the setting of Sturge-Weber syndromeMassimo 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)...
- Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspectiveRosalie 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...
- Pheochromocytoma associated with neurofibromatosis type 1: concepts and current trendsGeorge 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...
- [Dyscromic neurocutaneous syndromes]M A Sola Casas
Servicio de Dermatologia, , Barcelona,
Rev Neurol 25:S259-64. 1997Discromic neurocutaneous syndromes are an heterogeneous group of genetic diseases which associate pigmentary anomalies to nervous system disturbances...
- [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...
- [Keratotic neurocutaneous syndromes]J Tercedor
, Hospital Universitario Virgen de las Nieves, Granada,
Rev Neurol 25:S238-42. 1997..DEVELOPMENT: Classic keratotic neurocutaneous syndromes including SjÃ¶gren-Larsson syndrome, trichotyodystrophy, KID (keratitis, ichthyosis and deafness) ..
- Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyomaMatthias 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...
- Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of ItoK Muhammed
Department of Dermatology and Venereology, Medical College, Kozhikode, Kerala, India
Indian J Dermatol Venereol Leprol 73:43-5. 2007Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare...
- [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....
- A rare case of massive NF1 with invasion of entire spinal axis by neurofibromas: case reportFeyzi 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...
- Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesisCharis 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...
- Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classificationA Di Landro
Clinica Dermatologica V, Universita degli Studi di Milano, Bergamo General Hospital Bergamo
Pediatr Dermatol 16:25-30. 1999....
- 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...
- Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndromeJesús 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...
- [Cerebral magnetic resonance in the study of West syndrome]S Galicchio
, , Garrahan, Buenos Aires, Argentina
Rev Neurol 28:685-7. 1999....
- Phakomatosis pigmentovascularisD 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...
- Clinical examination of brachial and pelvic plexus tumorsShelly 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...
- Klippel-Trenaunay-Weber syndrome and intramedullary cervical cavernoma: a very rare association. Case reportAngelo 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...
- Sudden death and the forensic evaluation of neurocutaneous syndromesLisbeth 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...
- [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...
- [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....
- [Neurocutaneous syndrome with hair alterations]F Camacho-Martinez
Departamento de Dermatologia, Facultad de Medicina, Universidad de Sevilla, Espana
Rev Neurol 25:S243-9. 1997There 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 ..
- 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 keratodermaEli Sprecher
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
Am J Hum Genet 77:242-51. 2005b>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...
- [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...
- [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...
- Klippel-Trenaunay syndrome and cerebral haemangiopericytoma: a potential associationM 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...
- Allelic Expression Imbalance in Tuberous Sclerosis ComplexVinodh 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. ..
- TUBEROUS SCLEROSIS AND ALLIED DISORDERSWilliam 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 ..
- CHRONOBIOLOGY OF PARTIAL EPILEPSYMark 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. ..
- CHARACTERIZATION OF TSC PROTEIN HAMARTIN AND TUBERINVijaya Ramesh; Fiscal Year: 2005..The information obtained here will elucidate the physiological functions of these tumor suppressors, which will aid in designing better therapies. ..
- Effect of vertebral endplate composition on disc healthFrank Acosta; Fiscal Year: 2006..unreadable] [unreadable]..
- 2006 NF Consortium for NF1, NF2 and SchwannomatosisVijaya 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]..
- Genes that deregulate mTOR signaling as candidates for autism spectrum disordersVijaya 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]..