Open AccessJournal Article
Incontinentia Pigmenti: Case Report
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
Clinical study of 40 cases of incontinentia pigmenti.
Smail Hadj-Rabia,David Froidevaux,Nathalie Bodak,D. Hamel-Teillac,Asma Smahi,Yasmina Touil,Sylvie Fraitag,Yves de Prost,Christine Bodemer +8 more
TL;DR: The distribution of manifestations in a pediatric cohort and guidelines for follow-up of incontinentia pigmenti are analyzed to better understand the pathological mechanisms of IP and develop new therapies.
Book ChapterDOI
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
TL;DR: Study of mouse models in which various components of the NF-κB pathway (including NEMO) have been knocked out has contributed significantly to the understanding of disease pathogenesis.
Journal ArticleDOI
Isolation of full-length cDNA and chromosomal localization of human NF-κB modulator NEMO to Xq28
Dong-Yan Jin,Kuan-Teh Jeang +1 more
TL;DR: The isolation of a full-length human NEMO cDNA is reported, which predicts a 48-kD coiled-coil protein which shares 87.9% identity and 90.5% similarity with the mouse homolog.
Journal ArticleDOI
NEMO, NFκB signaling and incontinentia pigmenti
TL;DR: The finding that the disease results from a common, recurrent mutation was surprising given the high variability in patients' phenotypes and illustrates the role of X inactivation and selection in females.
Journal ArticleDOI
Incontinentia pigmenti. A four-generation study.
Dan A. Wiklund,William L. Weston +1 more
TL;DR: Evidence is offered to support the theory that the pattern of inheritance of incontinentia pigmenti is by linkage of the gene on the X chromosome acting as a dominant gene in females and lethal in males.