메뉴 건너뛰기




Volumn 21, Issue 5, 2006, Pages 239-248

Incontinentia pigmenti: Clinical and neuroimaging findings in a series of 12 patients;Incontinentia pigmenti. Hallazgos clínicos y radiológicos en una serie de 12 pacientes

Author keywords

Cerebral changes; Incontinentia pigmenti; Microcephaly; Ocular lesions; Phakomatosis

Indexed keywords

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; BRAIN ATROPHY; BRAIN CORTEX; BRAIN DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EYE DISEASE; FEMALE; FOLLOW UP; HEMISPHERE; HUMAN; INCONTINENTIA PIGMENTI; MICROCEPHALY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SCALP; SKIN BIOPSY; SKIN DEFECT;

EID: 33745941173     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (22)

References (36)
  • 1
    • 0000513392 scopus 로고
    • Peculiar pigmentation of the skin in an infant
    • Garrod AE. Peculiar pigmentation of the skin in an infant. Trans Clin Soc London 1906;39:216-7.
    • (1906) Trans Clin Soc London , vol.39 , pp. 216-217
    • Garrod, A.E.1
  • 2
    • 0001035253 scopus 로고
    • Eigentumliche bisher nicht beschriebene pigmentafektion (incontinentia pigmenti)
    • Bloch B. Eigentumliche bisher nicht beschriebene pigmentafektion (incontinentia pigmenti). Schweiz Med Wochen 1926;7: 404-5.
    • (1926) Schweiz Med Wochen , vol.7 , pp. 404-405
    • Bloch, B.1
  • 3
    • 0002399594 scopus 로고
    • Über eine bisher micht beschrieben congenitale pigmentonomalie (incontinentia pigmenti)
    • Sulzberger MB. Über eine bisher micht beschrieben congenitale pigmentonomalie (incontinentia pigmenti). Arch Derm Syph (Berlin) 1928;154:19-32.
    • (1928) Arch Derm Syph (Berlin) , vol.154 , pp. 19-32
    • Sulzberger, M.B.1
  • 4
    • 33745964770 scopus 로고    scopus 로고
    • Hypomelanosis of Ito
    • Roach ES, Miller VS, editores. Cambridge: Cambridge University Press
    • Pascual-Castroviejo I. Hypomelanosis of Ito. En: Roach ES, Miller VS, editores. Neurocutaneous disorders. Cambridge: Cambridge University Press, 2004; p. 123-30.
    • (2004) Neurocutaneous Disorders , pp. 123-130
    • Pascual-Castroviejo, I.1
  • 5
    • 0002665724 scopus 로고
    • A propos de l'incontinentia pigmenti: Delimitation de deux sindromes diferentes figurant sous le même terne
    • Franceschetti A, Jadassohn W. A propos de l'incontinentia pigmenti: delimitation de deux sindromes diferentes figurant sous le même terne. Dermatólogica 1954;108:1-28.
    • (1954) Dermatólogica , vol.108 , pp. 1-28
    • Franceschetti, A.1    Jadassohn, W.2
  • 6
    • 0017260992 scopus 로고
    • Incontinentia pigmenti: A world statistical análisis
    • Carney RG. Incontinentia pigmenti: a world statistical análisis. Arch Dermatol 1976;112:535-42.
    • (1976) Arch Dermatol , vol.112 , pp. 535-542
    • Carney, R.G.1
  • 7
    • 0015130381 scopus 로고
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome): Report of four additional cases
    • Morgan JD. Incontinentia pigmenti (Bloch-Sulzberger syndrome): report of four additional cases. Am J dis Child 1971;122:294-300.
    • (1971) Am J Dis Child , vol.122 , pp. 294-300
    • Morgan, J.D.1
  • 8
    • 0034713270 scopus 로고    scopus 로고
    • Genomic rearragtement in MEMO impairs NF-kB activation and is a cause of incontinentia pigmenti
    • The International Incontinentia Pigmenti (IP) Consortium. Genomic rearragtement in MEMO impairs NF-kB activation and is a cause of incontinentia pigmenti. Nature 2000;405:466-72.
    • (2000) Nature , vol.405 , pp. 466-472
  • 10
    • 0016120594 scopus 로고
    • Depigmented lesions in incontinentia pigmenti: A useful diagnostic sign
    • Wiley HE, Frias JL. Depigmented lesions in incontinentia pigmenti: a useful diagnostic sign. Am J Dis Child 1974;128:546-7.
    • (1974) Am J Dis Child , vol.128 , pp. 546-547
    • Wiley, H.E.1    Frias, J.L.2
  • 11
    • 0025032484 scopus 로고
    • Destructive encephalopathy in incontinentia pigmenti: A primary disorder?
    • Shuper A, Bryan RN, Singer HS. Destructive encephalopathy in incontinentia pigmenti: a primary disorder? Pediatr Neurol 1990;6:137-40.
    • (1990) Pediatr Neurol , vol.6 , pp. 137-140
    • Shuper, A.1    Bryan, R.N.2    Singer, H.S.3
  • 12
    • 0027360939 scopus 로고
    • Incontinentia pigmenti: Clinical and neuroradiological features
    • Mangano S, Barbagallo A. Incontinentia pigmenti: clinical and neuroradiological features. Brain Dev 1993;15:362-6.
    • (1993) Brain Dev , vol.15 , pp. 362-366
    • Mangano, S.1    Barbagallo, A.2
  • 14
    • 32944481490 scopus 로고    scopus 로고
    • Diffuse cortical necrosis in a neonate with incontinentia pigmenti and a encephalitis like presentation
    • Wolf NI, Krämer N, Harting I, Seitz A, Ebinger F, Poschl J, et al. Diffuse cortical necrosis in a neonate with incontinentia pigmenti and a encephalitis like presentation. Am J Neuroradiol 2005;26:1580-2.
    • (2005) Am J Neuroradiol , vol.26 , pp. 1580-1582
    • Wolf, N.I.1    Krämer, N.2    Harting, I.3    Seitz, A.4    Ebinger, F.5    Poschl, J.6
  • 15
    • 0014278311 scopus 로고
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation
    • O'Doherty NY, Norman RM. Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation. Dev Med Child Neurol 1968;10:372-4.
    • (1968) Dev Med Child Neurol , vol.10 , pp. 372-374
    • O'Doherty, N.Y.1    Norman, R.M.2
  • 16
    • 0019552091 scopus 로고
    • Afectación neurológica en la incontinentia pigmenti (sindrome de Bloch-Sulzberger). Estudio de tres casos
    • Frontera Izquierdo P, Cabezuelo Huerta G, Mulas F, Monfort Marti A. Afectación neurológica en la incontinentia pigmenti (sindrome de Bloch-Sulzberger). Estudio de tres casos. An Esp Pediatr 1981;14:272-8.
    • (1981) An Esp Pediatr , vol.14 , pp. 272-278
    • Frontera Izquierdo, P.1    Cabezuelo Huerta, G.2    Mulas, F.3    Monfort Marti, A.4
  • 17
    • 0025032484 scopus 로고
    • Destructive encephalopathy in incontinentia pigmenti: A primary disorder?
    • Super A, Bryan RN, Singer HS. Destructive encephalopathy in incontinentia pigmenti: a primary disorder? Pediatr Neurol 1990; 6:137-40.
    • (1990) Pediatr Neurol , vol.6 , pp. 137-140
    • Super, A.1    Bryan, R.N.2    Singer, H.S.3
  • 18
    • 0027012569 scopus 로고
    • Complications cerebrales de l'incontinentia pigmenti. Etude clinique et pathologique d'un cas
    • Triki C, Devistor D, Kah S, Roge-Wolter M, Lacroix C, Venencie PY, et al. Complications cerebrales de l'incontinentia pigmenti. Etude clinique et pathologique d'un cas. Rev Neurol (Paris) 1992;148:773-6.
    • (1992) Rev Neurol (Paris) , vol.148 , pp. 773-776
    • Triki, C.1    Devistor, D.2    Kah, S.3    Roge-Wolter, M.4    Lacroix, C.5    Venencie, P.Y.6
  • 19
    • 0023253986 scopus 로고
    • Recurrent encephalomyelitis associated with incontinentia pigmenti
    • Brunquell PJ. Recurrent encephalomyelitis associated with incontinentia pigmenti. Pediatr Neurol 1987;3:174-7.
    • (1987) Pediatr Neurol , vol.3 , pp. 174-177
    • Brunquell, P.J.1
  • 20
    • 0017814373 scopus 로고
    • Encephalitis in two members of a family with incontinentia pigmenti (Bloch-Sulzberger syndrome): The possible role of the inflammation in the pathogenesis of CNS involvement
    • Siemes H, Sneider H, Dening D, Hanefeld F. Encephalitis in two members of a family with incontinentia pigmenti (Bloch-Sulzberger syndrome): the possible role of the inflammation in the pathogenesis of CNS involvement. Eur J Pediatr 1978;129:103-15.
    • (1978) Eur J Pediatr , vol.129 , pp. 103-115
    • Siemes, H.1    Sneider, H.2    Dening, D.3    Hanefeld, F.4
  • 21
    • 0021811301 scopus 로고
    • Computed tomographic demonstration of brain changes in incontinentia pigmenti
    • Avrahami E, Harel S, Jurgenson U, Conn DF. Computed tomographic demonstration of brain changes in incontinentia pigmenti. Am J Dis Child 1985;139:372-4.
    • (1985) Am J Dis Child , vol.139 , pp. 372-374
    • Avrahami, E.1    Harel, S.2    Jurgenson, U.3    Conn, D.F.4
  • 22
    • 0031921679 scopus 로고    scopus 로고
    • Coexistence of incontinentia pigmenti and neonatal herpes simplex virus infection
    • Stitt WZ, Scott GA, Caserta M, Goldsmith LA. Coexistence of incontinentia pigmenti and neonatal herpes simplex virus infection. Pediatr Dermatol 1998;15:112-5.
    • (1998) Pediatr Dermatol , vol.15 , pp. 112-115
    • Stitt, W.Z.1    Scott, G.A.2    Caserta, M.3    Goldsmith, L.A.4
  • 23
    • 0035115924 scopus 로고    scopus 로고
    • Neonatal herpes simplex and incontinentia pigmenti
    • Fromer ES, Lynch PJ. Neonatal herpes simplex and incontinentia pigmenti. Pediatr Dermatol 2001;18:86.
    • (2001) Pediatr Dermatol , vol.18 , pp. 86
    • Fromer, E.S.1    Lynch, P.J.2
  • 24
    • 0028353587 scopus 로고
    • Vascular occlusion associated with incontinentia pigmenti
    • Pellegrino RJ, Shah AJ. Vascular occlusion associated with incontinentia pigmenti. Pediatr Neurol 1994;10:73-4.
    • (1994) Pediatr Neurol , vol.10 , pp. 73-74
    • Pellegrino, R.J.1    Shah, A.J.2
  • 26
    • 0142248341 scopus 로고    scopus 로고
    • Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti
    • Hennel SJ, Ekert PG, Volpe JJ, Inder TE. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 2003;29:148-50.
    • (2003) Pediatr Neurol , vol.29 , pp. 148-150
    • Hennel, S.J.1    Ekert, P.G.2    Volpe, J.J.3    Inder, T.E.4
  • 27
    • 0034770283 scopus 로고    scopus 로고
    • Neurobiology of periventricular leukomalacia in the premature infant
    • Volpe JJ. Neurobiology of periventricular leukomalacia in the premature infant. Pediatr Res 2001;50:553-62.
    • (2001) Pediatr Res , vol.50 , pp. 553-562
    • Volpe, J.J.1
  • 28
    • 0027449090 scopus 로고
    • Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome)
    • Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology 1993;100:1645-54.
    • (1993) Ophthalmology , vol.100 , pp. 1645-1654
    • Goldberg, M.F.1    Custis, P.H.2
  • 29
    • 0021671174 scopus 로고
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome)
    • François J. Incontinentia pigmenti (Bloch-Sulzberger syndrome). Br J Ophthalmol 1984;68:19-25.
    • (1984) Br J Ophthalmol , vol.68 , pp. 19-25
    • François, J.1
  • 30
    • 0022371852 scopus 로고
    • Painful subungueal keratotic tumors in incontinentia pigmenti
    • Mascaró JM, Palou J, Vives P. Painful subungueal keratotic tumors in incontinentia pigmenti. J Am Acad Dermatol 1985;13: 913-8.
    • (1985) J Am Acad Dermatol , vol.13 , pp. 913-918
    • Mascaró, J.M.1    Palou, J.2    Vives, P.3
  • 32
    • 0033051635 scopus 로고    scopus 로고
    • Isolation of full-length cONA and chromosomal localization of human NF-kappa B modulator NEMO to Xq28
    • Jin DY, Jeang KT. Isolation of full-length cONA and chromosomal localization of human NF-kappa B modulator NEMO to Xq28. J Biomed Sci 1999;6:115-20.
    • (1999) J Biomed Sci , vol.6 , pp. 115-120
    • Jin, D.Y.1    Jeang, K.T.2
  • 33
    • 0035281865 scopus 로고    scopus 로고
    • Incontinentia pigmenti in a surviving male is accompanied by hypohydrotic ectodermal dysplasia and recurrent infection
    • Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick E, et al. Incontinentia pigmenti in a surviving male is accompanied by hypohydrotic ectodermal dysplasia and recurrent infection. Am J Med Genet 2001;99:172-7.
    • (2001) Am J Med Genet , vol.99 , pp. 172-177
    • Mansour, S.1    Woffendin, H.2    Mitton, S.3    Jeffery, I.4    Jakins, T.5    Kenwrick, E.6
  • 34
    • 0032541657 scopus 로고    scopus 로고
    • IKK-y is an essential regulatori subunit of the Ikb Kinase complex
    • Rothwarf DM, Zandi E, Natoli G, Karin M. IKK-y is an essential regulatori subunit of the Ikb Kinase complex. Nature 1998;395: 297-300.
    • (1998) Nature , vol.395 , pp. 297-300
    • Rothwarf, D.M.1    Zandi, E.2    Natoli, G.3    Karin, M.4
  • 35
    • 0033658369 scopus 로고    scopus 로고
    • A novel X-linked disorder of immune deficiency and hypohydrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutation in IKK-gamma (NEMO)
    • Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, et al. A novel X-linked disorder of immune deficiency and hypohydrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutation in IKK-gamma (NEMO). Am J Hum Genet 2000;67:1555-62.
    • (2000) Am J Hum Genet , vol.67 , pp. 1555-1562
    • Zonana, J.1    Elder, M.E.2    Schneider, L.C.3    Orlow, S.J.4    Moss, C.5    Golabi, M.6
  • 36
    • 0035089759 scopus 로고    scopus 로고
    • Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-y)
    • Aradhya S, Courtois G, Raikovic A, Lewis RA, Levy M, Israël A, et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-y). Am J Hum Genet 2001;68:765-71.
    • (2001) Am J Hum Genet , vol.68 , pp. 765-771
    • Aradhya, S.1    Courtois, G.2    Raikovic, A.3    Lewis, R.A.4    Levy, M.5    Israël, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.