Systematic review of central nervous system anomalies in incontinentia pigmenti

Orphanet Journal of Rare Diseases

Miljana Obradović¹  Dušan Trpinac¹  Snežana Minić² 

[1] Institute of Histology and Embryology, School of Medicine, University of Belgrade, Dr Subotića 8, 11000 Belgrade, Serbia;School of Medicine, University of Belgrade, and Dermatovenerology Clinic, Clinical Center of Serbia, Deligradska 34, 11000 Belgrade, Serbia

关键词: Systematic review;    Diagnostic criteria;    CNS anomalies;    IKBKG gene;    Incontinentia pigmenti;   

Others  :  864122
DOI  :  10.1186/1750-1172-8-25

 received in 2012-11-14, accepted in 2013-02-05,  发布年份 2013

【 摘 要 】

The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993–2012. CNS anomalies were diagnosed for 30.44% of the investigated IP patients. The total number of CNS types of anomalies per patient was 1.62. In the present study there was no significantly higher number of anomalies per patient in females than males. The most frequent CNS types of anomalies were seizures, motor impairment, mental retardation, and microcephaly. The most frequently registered CNS lesions found using brain imaging methods were brain infarcts or necrosis, brain atrophies, and corpus callosum lesions. IKBKG exon 4–10 deletion was present in 86.00% of genetically confirmed IP patients. The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria.

【 授权许可】

   
2013 Minic et al.; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2012 – Number 1. [ http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf webcite]
• [2]Scheuerle A, Ursini MV: Incontinentia pigmenti (Bloch-Sulzberger syndrome). University of Washington, Seattle (WA): GeneReviews 2008 Feb, 22 pp. [ http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=i-p webcite.]
• [3]Landy SJ, Donnai D: Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993, 30:53-59.
• [4]Berlin AL, Paller AS, Chan LS: Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002, 47:169-187.
• [5]Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL: Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000, 405:466-472.
• [6]Courtois G, Gilmore TD: Mutations in the NF-κB signaling pathway: implication for human disease. Oncogene 2006, 25:6831-6843.
• [7]Mattson MP, Camandola S: NF-κB in neuronal plasticity and neurodegenerative disorders. J Clin Invest 2001, 107:247-254.
• [8]Mattson MP, Meffert MK: Roles for NF-κB in nerve cell survival, plasticity, and disease. Cell Death Differ 2006, 13:852-860.
• [9]Levenson JM, Pizzi M, Sweatt JD: NF-κB in neurons: behavioral and physiologic roles in nervous system function. In NF-kB/Rel transcription factor family. Edited by Liou H-C. Georgtown and New York: Landes Bioscience and Springer Science+Business Media; 2006:147-161.
• [10]Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL: A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet 2001, 10:2171-2179.
• [11]Sebban-Benin H, Pescatore A, Fusco F, Pascuale V, Gautheron J, Yamaoka S, Moncla A, Ursini MV: Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum Mol Genet 2007, 16:2805-2815.
• [12]Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV: Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation. Hum Mol Genet 2004, 13:1763-1773.
• [13]Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV: Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat 2008, 29:595-604.
• [14]Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Martinez V: Incontinentia pigmenti: clinical and neuroimaging findings in a series of 12 patients. Neurologia 2006, 21:239-248.
• [15]Carney RG: Incontinentia pigmenti: a world statistical analysis. Arch Dermatol 1976, 112:535-542.
• [16]Garrod AE: Peculiar pigmentation of the skin of an infant. Trans Clin Soc London 1906, 39:216.
• [17]Sachs L: Applied statistics. 2nd edition. New York: Springer-Verlag; 1984.
• [18]Rola M, Martins T, Melo MJ, Gomes R, Roseira J, Souto A: Incontinence of pigment. An Pediatr (Barc) 2004, 60:601-602.
• [19]Martinez-Pomar N, Munoz-Saa I, Heine-Suner A, Martin A, Smahi A, Metamoros N: A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Hum Genet 2005, 118:458-465.
• [20]Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C: Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 2003, 139:1163-1170.
• [21]Kim BJ, Shin HS, Won CH, Lee JH, Kim KH, Kim MN, Ro BI, Kwon OS: Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci 2006, 21:474-477.
• [22]Eurocat Prevalence Data Tables. [ http://www.eurocat-network.eu/prevdata/resultsPdf.aspx?title=B3&allanom=false&allregf=true&allrega=true&anomalies=8&winx=1256&winy=894 webcite]
• [23]Theodore WH, Spencer SS, Wiebe S, Langfitt JT, Ali A, Shafer PP, Berg AT, Vickrey BG: Epilepsy in North America: a report prepared under the auspices of the global campaign against epilepsy, the International Bureau for Epilepsy, the International League Against Epilepsy, and the World Health Organization. Epilepsia 2006, 47:1700-1722.
• [24]Galasso C, Lo-Castro A, El-Malhany N, Curatolo P: "Idiopathic" mental retardation and new chromosomal abnormalities. Ital J Pediatr 2010, 36:17. BioMed Central Full Text
• [25]Fusco F, Fimiani G, Tadini G, Michele D, Ursini MV: Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol 2007, 56:264-267.
• [26]Bachevalier F, Marchal C, Di Cesare MP, Antunes A, Truchetet F: Atteinte neurologique létale au cours d'une incontinentia pigmenti. Ann Dermatol Venereol 2003, 130:1139-1142.
• [27]Hauw JJ, Perié G, Bonnette J, Escourolle R: Les 1ésions cérébrales de l’incontinentia pigmenti. A propos d’un cas anatomique. Acta Neuropathol 1977, 38:159-162.
• [28]Buinauskiene J, Buinauskaite E, Valiukeviciene S: Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. Medicina (Kaunas) 2005, 41:496-499.
• [29]Edelstein S, Naidich TP, Newton TH: The rare phakomatoses. In Pediatric neuroradiology. Part I. Edited by Tortori-Donati P, Rossi A. Berlin-Heidelberg: Springer-Verlag; 2005:819-854.
• [30]Meuwissen MEC, Mancini GMS: Neurological findings in incontinentia pigmenti; a review. Eur J Med Genet 2012, 55:323-331.
• [31]Fiorillo L, Sinclair DB, O'Byrne ML, Krol AL: Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr Neurol 2003, 29:66-68.
• [32]Hennel SJ, Ekert PG, Volpe JJ, Inder TE: Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 2003, 29:148-150.
• [33]Philippe O, Rio M, Malan V, Van Esch H, Baujat G, Bahi-Buisson N, Valayannopoulos V, Gesny R, Bonnefont JP, Munnich A, Froyen G, Amiel J, Boddaert N, Colleaux L: NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications. Eur J Hum Genet 2012.
• [34]Van der Knaap M, Valk J: Magnetic resonance of myelination and myelin disorders. Berlin-Heidelberg: Springer; 2005.
• [35]Hu YB, Zhang JK, Sun ZY, Yuan ZG, Liu YM, Mao CJ, Yan H: Retinal cell apoptosis, microvascular changes and expression of connective tissue growth factor in experimental diabetic rats. Zhonghua Yan Ke Za Zhi 2011, 47:521-526.
• [36]Kroemer G, Galluzzi L, Vandenabeele P, Abrams J, Alnemri ES, Baehrecke EH, Blagosklonny MV, El-Deiry WS, Golstein P, Green DR, Hengartner M, Knight RA, Kumar S, Lipton SA, Malorni W, Nuñez G, Peter ME, Tschopp J, Yuan J, Piacentini M, Zhivotovsky B, Melino G, Nomenclature Committee on Cell Death 2009: Classification of cell death: recommendations of the Nomenclature Committee on Cell Death 2009. Cell Death Differ 2009, 16:3-11.
• [37]Galluzzi L, Vitale I, Abrams JM, Alnemri ES, Baehrecke EH, Blagosklonny MV, Dawson TM, Dawson VL, El-Deiry WS, Fulda S, Gottlieb E, Green DR, Hengartner MO, Kepp O, Knight RA, Kumar S, Lipton SA, Lu X, Madeo F, Malorni W, Mehlen P, Nuñez G, Peter ME, Piacentini M, Rubinsztein DC, Shi Y, Simon HU, Vandenabeele P, White E, Yuan J, et al.: Molecular definitions of cell death subroutines: recommendations of the Nomenclature Committee on Cell Death 2012. Cell Death Differ 2012, 19:107-120.
• [38]Gu X, El-Remessy AB, Brooks SE, Al-Shabrawey M, Tsai NT, Caldwell RB: Hyperoxia induces retinal vascular endothelial cell apoptosis through formation of peroxynitrite. Am J Physiol Cell Physiol 2003, 285:C546-C554.
• [39]Garcia-Zepeda EA, Rothenberg ME, Ownbey RT, Celstin J, Leder P, Luster AD: Human eotaxin is a specific chemoattractant for eosinophil cells and provides a new mechanism to explain tissue eosinophilia. Nat Med 1996, 2:449-456.
• [40]Jean-Baptiste S, O’Toole EA, Chen M, Guitart J, Paller A, Chan LS: Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol 2002, 127:470-478.
• [41]Goldberg MF: The skin is not the predominant problem in incontinentia pigmenti. Arch Dermatol 2004, 140:748-750.
• [42]Minić S, Obradović M, Kovačević I, Trpinac D: Ocular anomalies in incontinentia pigmenti - literature review and meta-analysis. Srp Arh Celok Lek 2010, 138:408-413.
• [43]Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M: Dental and oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Invest 2013, 17:1-8.
• [44]Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV: Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms. Hum Mol Genet 2012, 21:1260-1271.
• [45]Chiurazzi P, Schwartz CE, Gecz J, Neri G: XLMR genes: update 2007. Eur J Hum Genet 2008, 16:422-434.
• [46]Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T: Genetics and pathophysiology of mental retardation. Eur J Hum Genet 2006, 14:701-713.
• [47]Hadj-Rabia S, Rimella A, Smahi A, Fraitag S, Hamel-Teillac D, Bonnefont JP, de Prost Y, Bodemer C: Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations. J Am Acad Dermatol 2011, 64:508-515.