Nörokutanöz Hastalıklar

Klar N, Cohen B, Lin DDM. Neurocutaneous syndromes. Handb Clin Neurol. 2016;135:565-589.

Kioutchoukova I, Foster D, Thakkar R, et al. Neurocutaneous Diseases: Diagnosis, Management, and Treatment. J Clin Med. 2024;13(6).

Berry SA, Peterson C, Mize W, et al. Klippel‐Trenaunay syndrome. American journal of medical genetics. 1998;79(4):319-326.

Swaiman KF, Ashwal S, Ferriero DM, et al. Swaiman's pediatric neurology: principles and practice: Elsevier Health Sciences 2017.

Elston JB, Payne WG. Maffucci syndrome. Eplasty. 2014;14:ic11.

Ruggieri M, Castroviejo IP, Di Rocco C. Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes: Springer 2009.

Roach ES, Miller VS. Neurocutaneous disorders: Cambridge University Press 2004.

Becker B, Strowd RE, 3rd. Phakomatoses. Dermatol Clin. 2019;37(4):583-606.

Stafstrom CE, Staedtke V, Comi AM. Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome. Front Neurol. 2017;8:87.

Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia. 2010;51(7):1236-1241.

Ostendorf AP, Gutmann DH, Weisenberg JL. Epilepsy in individuals with neurofibromatosis type 1. Epilepsia. 2013;54(10):1810-1814.

Jagtap S, Srinivas G, Harsha KJ, et al. Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients. J Child Neurol. 2013;28(6):725-731.

Vézina G. Neuroimaging of phakomatoses: overview and advances. Pediatr Radiol. 2015;45 Suppl 3:S433-442.

Chernoff KA, Schaffer JV. Cutaneous and ocular manifestations of neurocutaneous syndromes. Clin Dermatol. 2016;34(2):183-204.

Yadlapati S, Tripathy K. Incontinentia Pigmenti (Bloch-Sulzberger Syndrome). StatPearls. Treasure Island (FL): StatPearls Publishing LLC. 2024.

Engelhard SB, Kiss S, Gupta MP. Retinal manifestations of the neurocutaneous disorders. Curr Opin Ophthalmol. 2020;31(6):549-562.

Barzegar M, Poorshiri B, Yousefi L, et al. The clinical and paraclinical manifestations of tuberous sclerosis complex in children. Acta Neurol Belg. 2022;122(2):385-390.

Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci. 2021;22(11).

Feliciano DM. The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC). Front Neuroanat. 2020;14:39.

Northrup H, Aronow ME, Bebin EM, et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021;123:50-66.

Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatric Clinics. 2010;57(5):1131-1153.

Chan JW. Neuro-ophthalmic features of the neurocutaneous syndromes. International ophthalmology clinics. 2012;52(3):73-85.

Albaghdadi M, Thibodeau ML, Lara-Corrales I. Updated Approach to Patients with Multiple Café au Lait Macules. Dermatol Clin. 2022;40(1):9-23.

Lalor L, Davies OMT, Basel D, et al. Café au lait spots: When and how to pursue their genetic origins. Clin Dermatol. 2020;38(4):421-431.

Overwater IE, Bindels-de Heus K, Rietman AB, et al. Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs. Epilepsia. 2015;56(8):1239-1245.

Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, et al. Sturge-Weber syndrome: study of 55 patients. Can J Neurol Sci. 2008;35(3):301-307.

Wang S, Pan J, Zhao M, et al. Characteristics, surgical outcomes, and influential factors of epilepsy in Sturge-Weber syndrome. Brain. 2022;145(10):3431-3443.

Pecoraro A, Arehart E, Gallentine W, et al. Epilepsy in neurofibromatosis type 1. Epilepsy Behav. 2017;73:137-141.

Plotkin SR, Messiaen L, Legius E, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med. 2022;24(9):1967-1977.

Assogba K, Ferlazzo E, Striano P, et al. Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature. Neurol Sci. 2010;31(1):9-16.

Pavone P, Praticò AD, Ruggieri M, et al. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. Neurol Sci. 2015;36(7):1173-1180.

Korf BR. The phakomatoses. Clin Dermatol. 2005;23(1):78-84.

Douglas KAA, Douglas VP, Cestari DM. Neuro-ophthalmic manifestations of the phakomatoses. Curr Opin Ophthalmol. 2019;30(6):434-442.

Zhang C, Xu K, Long Q, et al. Clinical features and optical coherence tomography findings of retinal astrocytic hamartomas in Chinese patients with tuberous sclerosis complex. Graefes Arch Clin Exp Ophthalmol. 2020;258(4):887-892.

Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23(8):1506-1513.

Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. Jama. 1997;278(1):51-57.

Evans DG, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84(304):603-618.

Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic criteria update. Clinical Genetics. 2014;85(6):536-542.

Rosser T. Incontinentia pigmenti. Semin Pediatr Neurol. 2024;51:101156.

Kadonaga JN, Frieden IJ. Neurocutaneous melanosis: definition and review of the literature. Journal of the American Academy of Dermatology. 1991;24(5):747-755.

Metry D, Heyer G, Hess C, et al. Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics. 2009;124(5):1447-1456.

Garzon MC, Epstein LG, Heyer GL, et al. PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. J Pediatr. 2016;178:24-33.e22.

Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet. 2009;46(11):721-729.

Klar N, Cohen B, Lin DDM. Neurocutaneous syndromes. Handb Clin Neurol. 2016;135:565-589.

Kioutchoukova I, Foster D, Thakkar R, et al. Neurocutaneous Diseases: Diagnosis, Management, and Treatment. J Clin Med. 2024;13(6).

Berry SA, Peterson C, Mize W, et al. Klippel‐Trenaunay syndrome. American journal of medical genetics. 1998;79(4):319-326.

Swaiman KF, Ashwal S, Ferriero DM, et al. Swaiman's pediatric neurology: principles and practice: Elsevier Health Sciences 2017.

Elston JB, Payne WG. Maffucci syndrome. Eplasty. 2014;14:ic11.

Ruggieri M, Castroviejo IP, Di Rocco C. Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes: Springer 2009.

Roach ES, Miller VS. Neurocutaneous disorders: Cambridge University Press 2004.

Becker B, Strowd RE, 3rd. Phakomatoses. Dermatol Clin. 2019;37(4):583-606.

Stafstrom CE, Staedtke V, Comi AM. Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome. Front Neurol. 2017;8:87.

Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia. 2010;51(7):1236-1241.

Ostendorf AP, Gutmann DH, Weisenberg JL. Epilepsy in individuals with neurofibromatosis type 1. Epilepsia. 2013;54(10):1810-1814.

Jagtap S, Srinivas G, Harsha KJ, et al. Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients. J Child Neurol. 2013;28(6):725-731.

Vézina G. Neuroimaging of phakomatoses: overview and advances. Pediatr Radiol. 2015;45 Suppl 3:S433-442.

Chernoff KA, Schaffer JV. Cutaneous and ocular manifestations of neurocutaneous syndromes. Clin Dermatol. 2016;34(2):183-204.

Yadlapati S, Tripathy K. Incontinentia Pigmenti (Bloch-Sulzberger Syndrome). StatPearls. Treasure Island (FL): StatPearls Publishing LLC. 2024.

Engelhard SB, Kiss S, Gupta MP. Retinal manifestations of the neurocutaneous disorders. Curr Opin Ophthalmol. 2020;31(6):549-562.

Barzegar M, Poorshiri B, Yousefi L, et al. The clinical and paraclinical manifestations of tuberous sclerosis complex in children. Acta Neurol Belg. 2022;122(2):385-390.

Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci. 2021;22(11).

Feliciano DM. The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC). Front Neuroanat. 2020;14:39.

Northrup H, Aronow ME, Bebin EM, et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021;123:50-66.

Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatric Clinics. 2010;57(5):1131-1153.

Chan JW. Neuro-ophthalmic features of the neurocutaneous syndromes. International ophthalmology clinics. 2012;52(3):73-85.

Albaghdadi M, Thibodeau ML, Lara-Corrales I. Updated Approach to Patients with Multiple Café au Lait Macules. Dermatol Clin. 2022;40(1):9-23.

Lalor L, Davies OMT, Basel D, et al. Café au lait spots: When and how to pursue their genetic origins. Clin Dermatol. 2020;38(4):421-431.

Overwater IE, Bindels-de Heus K, Rietman AB, et al. Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs. Epilepsia. 2015;56(8):1239-1245.

Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, et al. Sturge-Weber syndrome: study of 55 patients. Can J Neurol Sci. 2008;35(3):301-307.

Wang S, Pan J, Zhao M, et al. Characteristics, surgical outcomes, and influential factors of epilepsy in Sturge-Weber syndrome. Brain. 2022;145(10):3431-3443.

Pecoraro A, Arehart E, Gallentine W, et al. Epilepsy in neurofibromatosis type 1. Epilepsy Behav. 2017;73:137-141.

Plotkin SR, Messiaen L, Legius E, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med. 2022;24(9):1967-1977.

Assogba K, Ferlazzo E, Striano P, et al. Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature. Neurol Sci. 2010;31(1):9-16.

Pavone P, Praticò AD, Ruggieri M, et al. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. Neurol Sci. 2015;36(7):1173-1180.

Korf BR. The phakomatoses. Clin Dermatol. 2005;23(1):78-84.

Douglas KAA, Douglas VP, Cestari DM. Neuro-ophthalmic manifestations of the phakomatoses. Curr Opin Ophthalmol. 2019;30(6):434-442.

Zhang C, Xu K, Long Q, et al. Clinical features and optical coherence tomography findings of retinal astrocytic hamartomas in Chinese patients with tuberous sclerosis complex. Graefes Arch Clin Exp Ophthalmol. 2020;258(4):887-892.

Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23(8):1506-1513.

Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. Jama. 1997;278(1):51-57.

Evans DG, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84(304):603-618.

Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic criteria update. Clinical Genetics. 2014;85(6):536-542.

Rosser T. Incontinentia pigmenti. Semin Pediatr Neurol. 2024;51:101156.

Kadonaga JN, Frieden IJ. Neurocutaneous melanosis: definition and review of the literature. Journal of the American Academy of Dermatology. 1991;24(5):747-755.

Metry D, Heyer G, Hess C, et al. Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics. 2009;124(5):1447-1456.

Garzon MC, Epstein LG, Heyer GL, et al. PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. J Pediatr. 2016;178:24-33.e22.

Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet. 2009;46(11):721-729.