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. Dahan D, Fenichel G, El Said R. Neurocutaneous syndromes. Adolesc Med. 2002;13:495-509 pubmed
    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. Zaroff C, Isaacs K. Neurocutaneous syndromes: behavioral features. Epilepsy Behav. 2005;7:133-42 pubmed
    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. Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, et al. Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics. 2009;124:1447-56 pubmed publisher
    ..This consensus statement was thus developed to establish diagnostic criteria for PHACE syndrome...
  4. Hale E, Stein J, Ben Porat L, Panageas K, Eichenbaum M, Marghoob A, et al. Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi--results from the NYU-LCMN registry. Br J Dermatol. 2005;152:512-7 pubmed
  5. Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol. 2005;141:385-8 pubmed
  6. Sarnat H, Flores Sarnat L. Embryology of the neural crest: its inductive role in the neurocutaneous syndromes. J Child Neurol. 2005;20:637-43 pubmed
    ..In the neurocutaneous syndromes, diverse features result from abnormal neural crest differentiation, providing a more encompassing ..
  7. Agero A, Benvenuto Andrade C, Dusza S, Halpern A, Marghoob A. Asymptomatic neurocutaneous melanocytosis in patients with large congenital melanocytic nevi: a study of cases from an Internet-based registry. J Am Acad Dermatol. 2005;53:959-65 pubmed
    ..We sought to determine prevalence of asymptomatic NCM, and current application of MRI as a screening tool...
  8. Metry D, Haggstrom A, Drolet B, Baselga E, Chamlin S, Garzon M, et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A. 2006;140:975-86 pubmed
    ..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...
  9. Kinsler V, Birley J, Atherton D. Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes. Br J Dermatol. 2009;160:143-50 pubmed publisher
    ..The aetiology of congenital melanocytic naevi (CMNs) is unknown...

More Information

Publications62

  1. Kono T, Ercocen A, Chan H, Kikuchi Y, Hori K, Uezono S, et al. Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. Dermatol Surg. 2003;29:642-6 pubmed
    ..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...
  2. Finklea L, Mohr M, Warthan M, Darrow D, Williams J. Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. Pediatr Dermatol. 2010;27:303-5 pubmed publisher
    ..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...
  3. Prada F, Mortera C, Bartrons J, Rissech M, Jimenez L, Carretero J, et al. Complex aortic coarctation and PHACE syndrome. Rev Esp Cardiol. 2010;63:1367-70 pubmed
    ..Surgical treatment was also complex. Prognosis in this condition depends primarily on cardiovascular and cerebral artery complications associated with the syndrome...
  4. Cultrera F, Guarnera F, Giardina M. Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosis. Minerva Pediatr. 2004;56:219-22 pubmed
    ..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...
  5. Scattolin M, Lin J, Peruchi M, Rocha A, Masruha M, Vilanova L. Neurocutaneous melanosis: follow-up and literature review. J Neuroradiol. 2011;38:313-8 pubmed publisher
    ..Also, neuroaxial MR screening should be performed in all cases and, ideally, before myelination of the brain to provide the highest sensitivity for detecting melanin deposits in the leptomeninges...
  6. Ramaswamy V, Delaney H, Haque S, Marghoob A, Khakoo Y. Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. Dev Med Child Neurol. 2012;54:563-8 pubmed publisher
    ..We sought to define the spectrum of central nervous system abnormalities in children with neurocutaneous melanocytosis...
  7. Drolet B, Dohil M, Golomb M, Wells R, Murowski L, Tamburro J, et al. Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. Pediatrics. 2006;117:959-64 pubmed
  8. Torrelo A, Zambrano A, Happle R. Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. Br J Dermatol. 2003;148:342-5 pubmed
    ..We found only one previous similar case in a textbook, and we support the classification of this condition as phacomatosis pigmentovascularis type V...
  9. Kinsler V, Thomas A, Ishida M, Bulstrode N, Loughlin S, Hing S, et al. Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol. 2013;133:2229-36 pubmed publisher
    ..These results suggest that single postzygotic NRAS mutations are responsible for multiple CMN and associated neurological lesions in the majority of cases. ..
  10. Vinters H, Park S, Johnson M, Mischel P, Catania M, Kerfoot C. Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes. Dev Neurosci. 1999;21:248-59 pubmed
    ..Other recently cloned genes associated with cortical malformations encompassed by the term CD are briefly described...
  11. Klezovitch O, Fernandez T, Tapscott S, Vasioukhin V. Loss of cell polarity causes severe brain dysplasia in Lgl1 knockout mice. Genes Dev. 2004;18:559-71 pubmed
  12. Slutsky J, Barr J, Femia A, Marghoob A. Large congenital melanocytic nevi: associated risks and management considerations. Semin Cutan Med Surg. 2010;29:79-84 pubmed publisher
    ..This paper will provide a detailed analysis of the risks associated with LCMN, as well as a discussion regarding management and treatment options...
  13. Boente M, Asial R, Happle R. Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. Pediatr Dermatol. 2008;25:76-80 pubmed publisher
  14. Garzon M, Huang J, Enjolras O, Frieden I. Vascular malformations. Part II: associated syndromes. J Am Acad Dermatol. 2007;56:541-64 pubmed
    ..Several of these syndromes are well defined and can often be distinguished on the basis of the flow characteristics of the associated vascular malformation...
  15. Afifi H, Zaki M, El Kamah G, El Darouti M. Elejalde syndrome: clinical and histopathological findings in an Egyptian male. Genet Couns. 2007;18:179-88 pubmed
    ..The differential diagnosis of silvery hair disorders includes Elejalde syndrome, Griscelli and Chediak-Higashi syndromes. In the present report, we review the literature on Elejalde syndrome and discuss the differential diagnosis...
  16. Quigg M, Rust R, Miller J. Clinical findings of the phakomatoses: neurofibromatosis. Neurology. 2006;66:E23-4 pubmed
  17. Korf B. The phakomatoses. Clin Dermatol. 2005;23:78-84 pubmed
    ..In each case, genetic testing is beginning to be available; principles of the use of genetic tests will be described...
  18. Schweitzer D, Yano S, Earl D, Graham J. Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case. Am J Med Genet A. 2003;120A:400-5 pubmed
    ..The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives...
  19. Grippo J, Corral M, Grippo T. [Limbic system and partial seizures with psychoaffective signs]. Rev Neurol. 2001;33:145-8 pubmed
    ..In nonconvulsive episodes, autonomic alterations, visceral dysfunction and abnormal emotional states illustrate epileptic symptomatology. Fear responses, with possible connections to amygdala are presents in partial epileptic seizures...
  20. Mamlouk M, Hess C. Arterial spin-labeled perfusion for vascular anomalies in the pediatric head and neck. Clin Imaging. 2016;40:1040-6 pubmed publisher
    ..ASL imaging of cutaneous vascular anomalies shows specific signal intensity patterns and can provide additional value when compared to conventional MR sequences. ..
  21. Valdivieso R. Ipsilateral café-au-lait macules, deafness, and pituitary microadenoma in a 35-year-old woman. Int J Dermatol. 2008;47:171-3 pubmed publisher
    ..The association between ipsilateral café-au-lait macules, deafness, and pituitary adenoma has not been described previously...
  22. Inamadar A, Palit A. Silvery hair with bronze-tan in a child: A case of Elejalde disease. Indian J Dermatol Venereol Leprol. 2007;73:417-9 pubmed
    ..The patient died on the second day following admission. A clinical diagnosis of Elejalde disease was made. The clinical and genetic overlapping of the three silvery-hair syndromes has been discussed...
  23. Abbo O, Dubedout S, Ballouhey Q, Maza A, Sevely A, Galinier P. [Asymptomatic neonatal neurocutaneous melanosis]. Arch Pediatr. 2012;19:1319-21 pubmed publisher
    ..With recommended neonatal screening, asymptomatic neonatal cases are being discovered more frequently. On the basis of this observation, we consider various aspects of this association...
  24. Gupta A, Dubey S, Agarwal M. A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma. J AAPOS. 2007;11:398-9 pubmed
    ..Oculodermal melanocytosis is characterized by hyperpigmentation of the facial skin in the distribution of the ophthalmic, maxillary, and occasionally mandibular division of the trigeminal nerve...
  25. Travers R, Allen R. Chronic infantile neurological cutaneous and articular syndrome--an early description. J Rheumatol. 2006;33:822-4 pubmed
  26. Happle R. [Phylloid hypomelanosis and mosaic trisomy 13: a new etiologically defined neurocutaneous syndrome]. Hautarzt. 2001;52:3-5 pubmed
    ..In contrast to hypomelanosis of Ito which is associated with many different forms of genetic mosaicism, phylloid hypomelanosis most likely represents a cytogenetically rather uniform neurocutaneous phenotype...
  27. Paprocka J, Jamroz E, Kajor M, Marszał E. [Neurocutaneous melanosis--case report]. Wiad Lek. 2004;57:520-3 pubmed
    ..Magnetic resonance imaging (MRI) of the head performed at the age of 2 months showed melanin deposits in the temporal lobes. The diagnosis of neurocutaneous melanosis was made on the basis of clinical picture...
  28. Kiratli H, Sahin A. Fundus features of a case of neurocutaneous melanosis. Ophthalmic Genet. 2004;25:271-6 pubmed
    ..These findings also help to strengthen the view that neurocutaneous melanosis may represent a rare form of phakomatosis...
  29. Lo P, Tzung T. Phakomatosis pigmentovascularis type IIb with a patent umbilical vein and inferior vena cava hypoplasia. Br J Dermatol. 2003;148:836-8 pubmed
  30. Mizuno T, Nakagawa E, Saito Y, Komaki H, Sugai K, Sasaki M, et al. [A case of neurocutaneous melanosis associated with focal cortical dysplasia]. No To Hattatsu. 2011;43:300-3 pubmed
    ..Sebaceous nevus syndrome may have been due to certain allelic defects that were independent of those for neurocutaneous melanosis. ..
  31. Soyer T, Vargel I, Ayva S, Cavusoglu T, Cesur O, Bulbul S, et al. Intrascrotal extratesticular neurofibroma as a possible cause of failed descent in ipsilateral testis. Indian J Pediatr. 2012;79:117-9 pubmed publisher
  32. Shah K. The risk of melanoma and neurocutaneous melanosis associated with congenital melanocytic nevi. Semin Cutan Med Surg. 2010;29:159-64 pubmed publisher
  33. Moya Plana A, Vacher C. [Neurocutaneous flaps applied on head and neck surgery: Anatomic study of feasibility using superficial cervical plexus branches]. Morphologie. 2010;94:58-62 pubmed publisher
    ..To evaluate the feasibility of neurocutaneous flaps for head and neck surgery using the cervical superficial plexus branches...
  34. Sorhage B. [Increased pigmentation of the sclera and periorbital region associated with increased cutaneous vascularization of the left arm]. J Dtsch Dermatol Ges. 2005;3:301-3 pubmed
  35. Lin D, Barker P. Neuroimaging of phakomatoses. Semin Pediatr Neurol. 2006;13:48-62 pubmed
  36. Wolf R, Wolf D, Ruocco V, Baroni A, Ruocco E. Phacomatosis pigmento-pigmentaria: should we add a new type of phacomatosis? Fact and controversies. Clin Dermatol. 2013;31:464-466 pubmed publisher
    ..We consider that the benefits of doing so outweigh any additional strain on the already complicated classification. We expect that this might not sit well with some of our colleagues, but we are prepared to do battle. ..
  37. Azzoni A, Argentieri R, Raja M. Neurocutaneous melanosis and psychosis: a case report. Psychiatry Clin Neurosci. 2001;55:93-5 pubmed
    ..It is likely that such an association has not previously been described because of the ominous prognosis of most cases of NM with early involvement of the central nervous system...
  38. Lee C, Choi D, Oh Y, Yoon H, Kim J. An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis. J Korean Med Sci. 2005;20:1082-4 pubmed
    ..Very rare case combined with these three kinds of phakomatosis has been reported...
  39. Colin T, Kumarasinghe Sujith P. Phakomatosis Pigmentovascularis Type IIB: a case report. J Dermatol. 2004;31:415-8 pubmed
    ..This lends further credence to the proposed hypothesis of twin spotting and cutaneous mosaicism in the pathogenesis of PPV...
  40. Arneja J, Gosain A. Giant congenital melanocytic nevi. Plast Reconstr Surg. 2009;124:1e-13e pubmed publisher
    ..Numerous excisional and nonexcisional options have been described for the management of giant congenital melanocytic nevi...
  41. Cushman L, Torres Martinez W, Weaver D. Johnson-McMillin syndrome: report of a new case with novel features. Birth Defects Res A Clin Mol Teratol. 2005;73:638-41 pubmed
    ..It is inherited in an autosomal dominant manner; however, the causative gene has not yet been identified...
  42. Danarti R, Happle R. Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. Eur J Dermatol. 2003;13:612 pubmed
  43. Giannetti L, Bambini F, Consolo U. [Teeth and oral mucosa in neurocutaneous syndromes, metabolic diseases and in diseases with defects of DNA repair]. Minerva Stomatol. 2003;52:175-80 pubmed
    ..The lesions may be of characterized by inflammations in neurocutaneous syndromes and by tumoral lesions in those diseases with defects of DNA repair...
  44. Toelle S, Weibel L, Schiegl H, Boltshauser E. Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome?. Neuropediatrics. 2011;42:234-6 pubmed publisher
    ..We propose to investigate patients with phacomatosis pigmentovascularis for associated venous brain malformations with adequate imaging techniques...
  45. Shields C, Kligman B, Suriano M, Viloria V, Iturralde J, Shields M, et al. Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. Arch Ophthalmol. 2011;129:746-50 pubmed publisher
    ..To describe the features of phacomatosis pigmentovascularis (cesioflammea type)...
  46. Perez M. The stepwise approach to the treatment of melasma. Cutis. 2005;75:217-22 pubmed
    ..In this article, we will discuss the objective evaluation of the patient with melasma, as well as the treatments based on disease severity. Further recommendations for maintenance in these patients also will be addressed...
  47. Greene A, Rogers G, Mulliken J. Schimmelpenning syndrome: an association with vascular anomalies. Cleft Palate Craniofac J. 2007;44:208-15 pubmed
    ..The purpose of this study was to determine the prevalence of vascular anomalies in Schimmelpenning syndrome...
  48. Pindolia K, Jordan M, Guo C, Matthews N, Mock D, Strovel E, et al. Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. Mol Genet Metab. 2011;102:161-9 pubmed publisher
    ..This biotinidase-deficient animal can be used to study systematically many aspects of the disorder and the role of biotinidase, biotin and biocytin in normal and in enzyme-deficient states...
  49. Puttgen K, Lin D. Neurocutaneous vascular syndromes. Childs Nerv Syst. 2010;26:1407-15 pubmed publisher
    ..This paper is meant to update clinicians and researchers about important advances in these rare, important vascular syndromes, to improve care, and lay the foundation for future directions for research...
  50. Bett B. Large or multiple congenital melanocytic nevi: occurrence of cutaneous melanoma in 1008 persons. J Am Acad Dermatol. 2005;52:793-7 pubmed
    ..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)...
  51. Chen Y, Deng W, Zhu H, Li J, Xu Y, Dai X, et al. The pathologic features of neurocutaneous melanosis in a cynomolgus macaque. Vet Pathol. 2009;46:773-5 pubmed publisher
    ..Based on the histologic, immunohistochemical, and electron microscopic results, the diagnosis of NCM was made. This case is possibly the first report of the condition in animals...
  52. Fernandez Flores A. Solitary oral fibromas of the tongue show similar morphologic features to fibrous papule of the face: a study of 31 cases. Am J Dermatopathol. 2010;32:442-7 pubmed publisher
    ..This would be similar to the morphologic relation, already described, between fibrous papules of the face and oral fibromas of phakomatoses...
  53. Donaire A, Carreno M, Bargallo N, Setoain X, Agudo R, Martín G, et al. Presurgical evaluation and cognitive functional reorganization in Fishman syndrome. Epilepsy Behav. 2005;6:440-3 pubmed
    ..memory and language functions to the nonaffected hemisphere, providing evidence that functional reorganization and restoration of cognitive functions may occur in the context of extensive malformations, such as neurocutaneous syndromes.