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MeSH Review

Incontinentia Pigmenti

 
 
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Disease relevance of Incontinentia Pigmenti

 

High impact information on Incontinentia Pigmenti

 

Chemical compound and disease context of Incontinentia Pigmenti

  • A single nucleotide deletion, at codon 137, that creates a L138X stop codon within the methyl-binding domain was found in an individual with features of RTT and incontinentia pigmenti [9].
  • In infants with incontinentia pigmenti, retinal vascular anomalies are best detected by examination under anesthesia using fluorescein angiography [10].
  • Painful subungual tumour in incontinentia pigmenti. Response to treatment with etretinate [11].
  • (J Am Acad Dermatol 2002;47:169-87.) Learning objective: At the completion of this learning activity, participants will have a comprehensive and current understanding of incontinentia pigmenti, including its typical and uncommon clinical and histopathologic characteristics, diagnostic assessment, and current management strategies [12].
  • Hypo- and hyperpigmented areas in incontinentia pigmenti. Reply by Zillikens et al [13].
 

Biological context of Incontinentia Pigmenti

 

Anatomical context of Incontinentia Pigmenti

 

Gene context of Incontinentia Pigmenti

 

Analytical, diagnostic and therapeutic context of Incontinentia Pigmenti

References

  1. Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28. Gigarel, N., Frydman, N., Burlet, P., Kerbrat, V., Steffann, J., Frydman, R., Munnich, A., Ray, P.F. Hum. Genet. (2004) [Pubmed]
  2. Corneal abnormalities associated with incontinentia pigmenti. Ferreira, R.C., Ferreira, L.C., Forstot, L., King, R. Am. J. Ophthalmol. (1997) [Pubmed]
  3. The genodermatoses and their significance in pediatric dermatology. Alper, J.C. Dermatologic clinics. (1986) [Pubmed]
  4. Recurrent inflammation in incontinentia pigmenti of a seven-year-old child. Pfau, A., Landthaler, M. Dermatology (Basel) (1995) [Pubmed]
  5. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Smahi, A., Courtois, G., Vabres, P., Yamaoka, S., Heuertz, S., Munnich, A., Israël, A., Heiss, N.S., Klauck, S.M., 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, S.J., Aradhya, S., Yamagata, T., Levy, M., Lewis, R.A., Nelson, D.L. Nature (2000) [Pubmed]
  6. NEMO/IKK gamma-deficient mice model incontinentia pigmenti. Schmidt-Supprian, M., Bloch, W., Courtois, G., Addicks, K., Israël, A., Rajewsky, K., Pasparakis, M. Mol. Cell (2000) [Pubmed]
  7. NEMO is a sensor of Lys 63-linked polyubiquitination and functions in NF-kappaB activation. Wu, C.J., Conze, D.B., Li, T., Srinivasula, S.M., Ashwell, J.D. Nat. Cell Biol. (2006) [Pubmed]
  8. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Aradhya, S., Courtois, G., Rajkovic, A., Lewis, R.A., Levy, M., Israël, A., Nelson, D.L. Am. J. Hum. Genet. (2001) [Pubmed]
  9. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Wan, M., Lee, S.S., Zhang, X., Houwink-Manville, I., Song, H.R., Amir, R.E., Budden, S., Naidu, S., Pereira, J.L., Lo, I.F., Zoghbi, H.Y., Schanen, N.C., Francke, U. Am. J. Hum. Genet. (1999) [Pubmed]
  10. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Goldberg, M.F., Custis, P.H. Ophthalmology (1993) [Pubmed]
  11. Painful subungual tumour in incontinentia pigmenti. Response to treatment with etretinate. Malvehy, J., Palou, J., Mascaró, J.M. Br. J. Dermatol. (1998) [Pubmed]
  12. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. Berlin, A.L., Paller, A.S., Chan, L.S. J. Am. Acad. Dermatol. (2002) [Pubmed]
  13. Hypo- and hyperpigmented areas in incontinentia pigmenti. Reply by Zillikens et al. Zillikens, D., Mehringer, A., Lechner, W., Burg, G. The American Journal of dermatopathology. (1992) [Pubmed]
  14. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Makris, C., Godfrey, V.L., Krähn-Senftleben, G., Takahashi, T., Roberts, J.L., Schwarz, T., Feng, L., Johnson, R.S., Karin, M. Mol. Cell (2000) [Pubmed]
  15. Interspersed repetitive sequence (IRS)-PCR amplification of pulsed-field gel fractionated DNA to derive markers from the incontinentia pigmenti 1 (IP1) locus. Burright, E.N., Gorski, J.L. Nucleic Acids Res. (1993) [Pubmed]
  16. A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Martinez-Pomar, N., Munoz-Saa, I., Heine-Suner, D., Martin, A., Smahi, A., Matamoros, N. Hum. Genet. (2005) [Pubmed]
  17. Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28. Angel, T.A., Faust, C.J., Gonzales, J.C., Kenwrick, S., Lewis, R.A., Herman, G.E. Mamm. Genome (1993) [Pubmed]
  18. Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28. Rogner, U.C., Heiss, N.S., Kioschis, P., Wiemann, S., Korn, B., Poustka, A. Genome Res. (1996) [Pubmed]
  19. Incontinentia pigmenti: a case associated with cardiovascular anomalies. Miteva, L., Nikolova, A. Pediatric dermatology. (2001) [Pubmed]
  20. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Zonana, J., Elder, M.E., Schneider, L.C., Orlow, S.J., Moss, C., Golabi, M., Shapira, S.K., Farndon, P.A., Wara, D.W., Emmal, S.A., Ferguson, B.M. Am. J. Hum. Genet. (2000) [Pubmed]
  21. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Smahi, A., Courtois, G., Rabia, S.H., Döffinger, R., Bodemer, C., Munnich, A., Casanova, J.L., Israël, A. Hum. Mol. Genet. (2002) [Pubmed]
  22. Mutation analysis of the DKC1 gene in incontinentia pigmenti. Heiss, N.S., Poustka, A., Knight, S.W., Aradhya, S., Nelson, D.L., Lewis, R.A., Esposito, T., Ciccodicola, A., D'Urso, M., Smahi, A., Heuertz, S., Munnich, A., Vabres, P., Woffendin, H., Kenwrick, S. J. Med. Genet. (1999) [Pubmed]
  23. Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti. Woffendin, H., Esposito, T., Jakins, T., Bardaro, T., Stern, M.H., Kenwrick, S. Eur. J. Hum. Genet. (2000) [Pubmed]
  24. Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. Aradhya, S., Nelson, D.L., Heiss, N.S., Poustka, A., Woffendin, H., Kenwrick, S., Esposito, T., Ciccodicola, A., Bardaro, T., D'Urso, M., Smahi, A., Munnich, A., Herman, G.E., Lewis, R.A. Am. J. Med. Genet. (2000) [Pubmed]
  25. Isolation of DNA markers from a region between incontinentia pigmenti 1 (IP1) X-chromosomal translocation breakpoints by a comparative PCR analysis of a radiation hybrid subclone mapping panel. Gorski, J.L., Burright, E.N., Reyner, E.L., Goodfellow, P.N., Burgess, D.L. Genomics (1992) [Pubmed]
  26. Macular vasculopathy and its evolution in incontinentia pigmenti. Goldberg, M.F. Transactions of the American Ophthalmological Society. (1998) [Pubmed]
 
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