Rare Neurocutaneous Disorders: State of the Art and Update

Martino Ruggieri; Giuseppe Micali; Andrea D. Praticò

doi:10.1055/s-0038-1668143

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2018; 16(05): 253-254
DOI: 10.1055/s-0038-1668143

Foreword

Georg Thieme Verlag KG Stuttgart · New York

Rare Neurocutaneous Disorders: State of the Art and Update

Martino Ruggieri

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Giuseppe Micali

²Dermatology Clinic, University of Catania, Catania, Italy

,

Andrea D. Praticò

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

› Author Affiliations

Abstract

Full Text

References

References
1 Gomez MR. Neurocutaneous Diseases. A Practical Approach. Boston: Butterworths; 1987
2 Moss C, Savin J. Dermatology and the New Genetics. Oxford: Blackwell Science; 1995
3 Harper J. Inherited Skin Disorders. The Genodermatoses. Oxford: Butterworth Heinemann; 1996
4 Spitz JL. Genodermatoses. A Full-Color Guide to Genetic Skin Disorders. Baltimore: Williams & Wilkins; 1996
5 Sybert VP. Genetic Skin Disorders. New York: Oxford University Press; 1997
6 Cohen MM, Neri G, Weksberg R. Overgrowth Syndromes. New York: Oxford University Press; 2002
7 Roach ES, Miller VS. Neurocutaneous Disorders. Cambridge: Cambridge University Press; 2004
8 Spitz JL. Genodermatoses. A Full-Color Guide to Genetic Skin Disorders. 2nd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2005
9 Curatolo P, Riva D. Neurocutaneous Syndromes in Children. Montrouge: John Libbey Eurotext; 2006
10 Ruggieri M, Pascual-Castroviejo I, Di Rocco C. Neurocutaneous Disorders: Phakomatoses and Hamartoneoplastic Syndromes. New York/Wien: Springer-Verlag; 2008
11 Islam MP, Roach ES. Neurocutaneous syndromes. In: Handbook of Clinical Neurology. 3rd Series. Vol. 132. Edinburgh: Elsevier; 2015
12 Ruggieri M, Praticò AD. Mosaic neurocutaneous disorders and their causes. Semin Pediatr Neurol 2015; 22 (04) 207-233
13 Beighton P, Beighton G. The Man Behind the Syndromes. Berlin: Springer-Verlag; 1986
14 Beighton G. The Person Behind the Syndromes. Berlin: Springer-Verlag; 1996
15 Van der Hoeve J. Eye symptoms in tuberous sclerosis of the brain. Trans Ophthalmol Soc 1920; 20: 329-334
16 Van der Hoeve J. Eye symptoms in phakomatoses (The Doyle Memorial Lecture). Trans Ophthalmol Soc 1932; 52: 380-401
17 Van der Hoeve J. Les phakomatoses de Bourneville, de Recklinghausen et de von Hippel-Lindau. J Belge Neurol Psychiatr 1933; 33: 752-762
18 Yakovlev PI, Guthrie RH. Congenital ectodermoses (neurocutaneous syndromes) in epileptic patients. Bourneville tuberous sclerosis (epiloia). Arch Neurol Psychiatry 1931; 26: 1145-1194
19 Van Bogaert L. Les dysplasies neuroectodermiques congenitales. Rev Neurol (Paris) 1935; 63: 354-398
20 Ruggieri M, Praticò AD, Caltabiano R, Polizzi A. Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: first descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes. Am J Med Genet A 2018; 176 (03) 515-550
21 Happle R. Mosaicism in Human Skin Disorders. Berlin: Springer; 2014
22 Ruggieri M, Polizzi A. From Aldrovandi's “Homuncio” (1592) to Buffon's girl (1749) and the “Wart Man” of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?. J Med Genet 2003; 40 (03) 227-232
23 Ruggieri M, Praticò AD, Scuderi A, Sorge G, Polizzi A. The multiple faces of artwork diagnoses. Lancet Neurol 2017; 16 (06) 417-418
24 Ruggieri M, Praticò AD, Caltabiano R, Polizzi A. Rediagnosing one of Smith's patients (John McCann) with “neuromas tumours” (1849). Neurol Sci 2017; 38 (03) 493-499
25 Polizzi A, Balsamo A, Bal MO, Taruscio D. Rare diseases research and practice. Endocr Dev 2014; 27: 234-256
26 Taruscio D, Agresta L, Amato A. , et al. The Italian National Centre for Rare Diseases: where research and public health translate into action. Blood Transfus 2014; 12 (12) (Suppl. 03) s591-s605
27 Luzzatto L, Hollak CE, Cox TM. , et al. Rare diseases and effective treatments: are we delivering?. Lancet 2015; 385 (9970): 750-752