Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Autoimmunity Highlights
Published in: Autoimmunity Highlights 2/2013

01-08-2013 | Case report

Arterial occlusion mimicking vasculitis in a patient with incontinentia pigmenti

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

Published in: Autoimmunity Highlights | Issue 2/2013

Login to get access

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.
Literature
1.
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.
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
3.
4.
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.
Curtois G, Smahi A (2006) NF-kB-related genetic disease. Cell Death Differ 13:843–851CrossRef
6.
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.
Fiorillo L, Sinclair DB, Ml O’Byrne et al (2003) Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr Neurol 29:66–68PubMedCrossRef
8.
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.
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.
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
Metadata
Title
Arterial occlusion mimicking vasculitis in a patient with incontinentia pigmenti
Authors
E. Beccastrini
G. Baldereschi
M. M. D’Elios
L. Emmi
Publication date
01-08-2013
Publisher
Springer International Publishing
Published in
Autoimmunity Highlights / Issue 2/2013
Print ISSN: 2038-0305
Electronic ISSN: 2038-3274
DOI
https://doi.org/10.1007/s13317-013-0050-y

ACC 2024 Congress Coverage

Heart Failure Video

Year in Review: Heart failure and cardiomyopathies

Watch now

Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits