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Erschienen in: Autoimmunity Highlights 2/2013

01.08.2013 | Case report

Arterial occlusion mimicking vasculitis in a patient with incontinentia pigmenti

verfasst von: E. Beccastrini, G. Baldereschi, M. M. D’Elios, L. Emmi

Erschienen in: Autoimmunity Highlights | Ausgabe 2/2013

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Abstract

A large number of diseases can mimic a vasculitis. The diagnosis can be challenging due to the similarity with several diseases that have a different pathogenesis. As reported in the literature, incontinentia pigmenti (IP), a rare genetic disorder, can present vascular alterations on eye, brain and lung. We report a case of peripheral arterial disease in a patient with IP, suggesting further vascular localizations of the disease.
Literatur
1.
Zurück zum Zitat Smahi A, Courtois G, Vabres P et al (2000) Genomic rearrangement in NEMO impairs NF-kB activation and is cause of incontinentia pigmenti. Nature 405:466–472PubMedCrossRef Smahi A, Courtois G, Vabres P et al (2000) Genomic rearrangement in NEMO impairs NF-kB activation and is cause of incontinentia pigmenti. Nature 405:466–472PubMedCrossRef
2.
Zurück zum Zitat Scheuerle A, Ursini MV (1999) Incontinentia Pigmenti. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Seattle WA (eds) Gene Reviews. University of Washington, Seattle Scheuerle A, Ursini MV (1999) Incontinentia Pigmenti. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Seattle WA (eds) Gene Reviews. University of Washington, Seattle
4.
Zurück zum Zitat Hadj-Rabia S, Rimella A, Smahi A (2011) Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-kB essential modulator gene mutations. J Am Acad Dermatol 64:508–515PubMedCrossRef Hadj-Rabia S, Rimella A, Smahi A (2011) Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-kB essential modulator gene mutations. J Am Acad Dermatol 64:508–515PubMedCrossRef
5.
Zurück zum Zitat Curtois G, Smahi A (2006) NF-kB-related genetic disease. Cell Death Differ 13:843–851CrossRef Curtois G, Smahi A (2006) NF-kB-related genetic disease. Cell Death Differ 13:843–851CrossRef
6.
Zurück zum Zitat Hennel AJ, Ekert PG, Volpe JJ et al (2003) Insight into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 29:148–150PubMedCrossRef Hennel AJ, Ekert PG, Volpe JJ et al (2003) Insight into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 29:148–150PubMedCrossRef
7.
Zurück zum Zitat Fiorillo L, Sinclair DB, Ml O’Byrne et al (2003) Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr Neurol 29:66–68PubMedCrossRef Fiorillo L, Sinclair DB, Ml O’Byrne et al (2003) Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr Neurol 29:66–68PubMedCrossRef
8.
Zurück zum Zitat Shah SN, Gibbs S, Upton CJ et al (2003) Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: a case report and literature review. Pediatr Dermatol 20:491–494PubMedCrossRef Shah SN, Gibbs S, Upton CJ et al (2003) Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: a case report and literature review. Pediatr Dermatol 20:491–494PubMedCrossRef
9.
Zurück zum Zitat O’Doherty M, Mc Creery K, Green AJ et al (2011) Incontinentia pigmenti-ophthalmological observation of a series of cases and review of the literature. Br J Ophthalmol 95:11–16PubMedCrossRef O’Doherty M, Mc Creery K, Green AJ et al (2011) Incontinentia pigmenti-ophthalmological observation of a series of cases and review of the literature. Br J Ophthalmol 95:11–16PubMedCrossRef
10.
Zurück zum Zitat Hayes IM, Varigos G, Upjohn EJ et al (2005) Unilateral acheiria and fatal pulmonary hypertension in a girl with incontinentia pigmenti. Am J Med Genet A 135:302–303PubMedCrossRef Hayes IM, Varigos G, Upjohn EJ et al (2005) Unilateral acheiria and fatal pulmonary hypertension in a girl with incontinentia pigmenti. Am J Med Genet A 135:302–303PubMedCrossRef
Metadaten
Titel
Arterial occlusion mimicking vasculitis in a patient with incontinentia pigmenti
verfasst von
E. Beccastrini
G. Baldereschi
M. M. D’Elios
L. Emmi
Publikationsdatum
01.08.2013
Verlag
Springer International Publishing
Erschienen in
Autoimmunity Highlights / Ausgabe 2/2013
Print ISSN: 2038-0305
Elektronische ISSN: 2038-3274
DOI
https://doi.org/10.1007/s13317-013-0050-y

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