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Incontinentia Pigmenti: Case Report
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TLDR
A case of a female newborn exhibiting characteristic cutaneous and neurologic findings with one-year follow-up is reported.Abstract:
Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disorder with characteristic skin, hair, eye, dental and neurologic abnormalities mostly affecting females. We report a case of a female newborn exhibiting characteristic cutaneous and neurologic findings with one-year follow-up.read more
Citations
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Journal ArticleDOI
Systematic review of central nervous system anomalies in incontinentia pigmenti
TL;DR: The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria.
Journal ArticleDOI
Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection.
Fahimeh Abdollahimajd,Minoo Fallahi,Mohammad Kazemian,Yalda Nilipour,Mitra Radfar,Sedigheh Tahereh Tehranchi +5 more
TL;DR: A 12-day female newborn with a history of maternal genital HSV in second trimester and vesicular lesions on the upper and lower limbs that was appeared at first hours of life is presented.
Journal ArticleDOI
A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus.
TL;DR: Findings indicate that when a patient presents with status epilepticus, meticulous examination for skin lesions should be performed to determine whether the patient has a neurocutaneous syndrome, such as IP.
Journal Article
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl.
TL;DR: The case of a 10-year-old female presented cutaneous, dental and ophthalmic characteristic with 3 years follow-up and there was a mutation in the body cells due to incontinentia pigmenti.
References
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Journal ArticleDOI
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
A. Smahi,Gilles Courtois,Pierre Vabres,Shoji Yamaoka,S. Heuertz,Arnold Munnich,Alain Israël,Nina S. Heiss,Sabine M. Klauck,Petra Kioschis,Stefan Wiemann,Annemarie Poustka,Teresa Esposito,T. Bardaro,Fernando Gianfrancesco,Alfredo Ciccodicola,Michele D'Urso,Hayley Woffendin,T. Jakins,D. Donnai,H. Stewart,Susan Kenwrick,Swaroop Aradhya,Takanori Yamagata,Michael J. Levy,Richard A. Lewis,David L. Nelson +26 more
TL;DR: Most cases of familial incontinentia pigmenti are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations, which means that NF-κB activation is defective in IP cells.
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Incontinentia pigmenti. A world statistical analysis.
TL;DR: This work reviewed 464 references from the world literature and found 653 apparently valid reports of patients with incontinentia pigmenti, which is an uncommon genodermatosis that usually affects female infants.
Journal ArticleDOI
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
S J Landy,Dian Donnai +1 more
TL;DR: The name incontinentia pigmenti describes the characteristic, albeit non-specific, histological feature where there is incontinence of melanin from the melanocytes in the basal layer of the epidermis into the superficial dermis.
Journal ArticleDOI
Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology
TL;DR: In this article, the authors present a review of the latest research findings on eosinophil recruitment through eotaxin release by activated keratinocytes and discuss anhidrotic ectodermal dysplasia with immunodeficiency, a disorder allelic to incontinentia pigmenti.