Incontinentia pigmenti in Cajamarca: A case report on infant
DOI:
https://doi.org/10.24265/horizmed.2015.v15n3.10Keywords:
Incontinentia pigmenti, Pigmentation disorders, Skin abnormalitiesAbstract
Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare dominant X-linkeddisease characterized by skinlesions. It may be accompanied by neurological, ophthalmological and dental manifestations. We report the case of a one month and twenty six days old female patient diagnosed with this diseasewho was successfully treated.
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Orphanet Report Series. Prevalence of rare diseases: Bibliographic data. 2012,Disponible en: http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases _by_alphabetical_list.pdf. Accedido Jul 4, 2013
Landy SJ, Donnai D: Incontinentia pigmenti (Bloch-Sulzbergersyndrome).J Med Genet 1993, 30:53-59.
Sheuerle A. Male cases of incontinentia pigmenti: A case andreview. Am J Med Genet. 1998; 77:201-18.
Smahi A, Courtois G, Vabres P et al. Genomicrearrangement in NEMO impairs NF-jB activation and isa cause of incontinentia pigmenti.Nature 2000; 405: 466-472.
Hadj-Rabia S, Rimella A, Smahi A, et al. Clinical and histologic features of incontinentia pigmentiin adults with nuclear factor κB essential modulatorgene mutations. J Am Acad Dermatol 2011; 64(3): 508-15. Epub 2011 Jan 20.
Minic S, TrpinacD, Obradovic M. Incontinentia pigmentidiagnostic criteria. Update.Clin Genet 2014; 85: 536-542
Meuwissen M, Mancini G. Neurological findings in incontinentia pigmenti; a review. European Journal of Medical Genetics. 2012; vol 55(5):323-331
Francois J. Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes. Br J Ophthalmol 1984; 68:19-25.
García García Alina, Hernández García Iván, de León Ojeda Norma, Acosta Sabatés Marta, Marrón Portales Lurdes. Revisión clínica de 28 casos de incontinencia pigmentaria. Rev Cubana Pediatr [revista en la Internet]. 2010 Sep [citado 2014 Jul 04]; 82(3):20-27. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312010000300003&lng=es.
Berlin AL, Paller AS, Chan LS. Incontinentiapigmenti: A review and update on the molecularbasis of pathophysiology. J Am Acad Dermatol. 2002; 47:169-89
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