Gene therapy decreases seizures in a model of Incontinentia pigmenti
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Neurology"
DOI: 10.1002/ana.24981
Abstract: Incontinentia pigmenti (IP) is a genetic disease leading to severe neurological symptoms, such as epileptic seizures, but no specific treatment is available. IP is caused by pathogenic variants that inactivate the Nemo gene. Replacing Nemo… read more here.
Keywords: therapy decreases; gene therapy; incontinentia pigmenti; gene ... See more keywords
Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction
Sign Up to like & getrecommendations! Published in 2021 at "Documenta Ophthalmologica"
DOI: 10.1007/s10633-021-09824-0
Abstract: To describe a case of a child with mild phenotype of Incontinentia Pigmenti (IP), with changes in Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCT-A) and an electronegative dark-adapted (DA) 3.0 electroretinogram… read more here.
Keywords: child mild; inner retinal; child; phenotype incontinentia ... See more keywords
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0417-3
Abstract: PurposeAnhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous… read more here.
Keywords: female patients; immunodeficiency; incontinentia pigmenti; nemo mutation ... See more keywords
Clinical utility gene card: for incontinentia pigmenti
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0463-9
Abstract: Incontinentia pigmenti (IP) is an X-linked dominant disease, generally lethal in males, caused by variants of the IKBKG/ NEMO gene (NM_001099856.4), which encodes for IKKgamma/NEMO, essential for NF-κB activation [1–3]. Although the classic IP phenotype… read more here.
Keywords: ikbkg nemo; gene; incontinentia pigmenti; nemo gene ... See more keywords
Lung sliding sign to detect endobronchial intubation in children: An observational feasibility trial.
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Anaesthesiology"
DOI: 10.1097/eja.0000000000001120
Abstract: References 1 Fusco F, Paciolla M, Conte MI, et al. Incontinentia pigmenti: report on data from 2000 to 2013. Orphanet J Rare Dis 2014; 9:93. 2 Smahi A, Courtois G, Vabres P, et al. Genomic… read more here.
Keywords: incontinentia; review; lung sliding; incontinentia pigmenti ... See more keywords
Incontinentia pigmenti and the eye
Sign Up to like & getrecommendations! Published in 2022 at "Current Opinion in Ophthalmology"
DOI: 10.1097/icu.0000000000000863
Abstract: Purpose of Review: Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP… read more here.
Keywords: ophthalmology; pigmenti eye; incontinentia pigmenti; pigmenti ... See more keywords
Incontinentia pigmenti in a male infant and a proposed diagnostic algorithm
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.15170
Abstract: number of factors, including the body site affected, but may include the following: osteomyelitis, cutaneous tuberculosis (scrofuloderma), atypical mycobacterial infection, botryomycosis, sporotrichosis and cutaneous leishmaniasis. Mini-mycetoma in particular may be confused with skin cancer or… read more here.
Keywords: diagnostic algorithm; proposed diagnostic; male infant; incontinentia pigmenti ... See more keywords
Combined rhegmatogenous and tractional retinal detachment in a child with incontinentia pigmenti managed by scleral imbrication with scleral buckle
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-253738
Abstract: We report for the first time a child with incontinentia pigmenti presenting with acute-onset rhegmatogenous retinal detachment in association with pre-existing tractional retinal detachment. Due to the combined nature of this detachment, complex vector forces… read more here.
Keywords: retinal detachment; child incontinentia; incontinentia pigmenti; scleral imbrication ... See more keywords
Incontinentia pigmenti burden scale: designing a family burden questionnaire
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-019-1234-y
Abstract: BackgroundIncontentia pigmenti (IP) is a rare multisystem disorder of ectodermal origin comprising skin, dental, ocular and central nervous system features. Symptomatic treatments are adapted to each family according to the patient’s disability. Due to its… read more here.
Keywords: pigmenti burden; family burden; incontinentia pigmenti; family ... See more keywords
Late contralateral recurrence of retinal detachment in incontinentia pigmenti: A case report
Sign Up to like & getrecommendations! Published in 2022 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v10.i13.4171
Abstract: BACKGROUND Incontinentia pigmenti (IP) is a rare X-linked genetic disease. It mainly manifests as skin lesions and causes problems in the eyes, teeth, bones, and central nervous system. Of the various ocular manifestations, the most… read more here.
Keywords: retinal detachment; eye; case; incontinentia pigmenti ... See more keywords
Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12071711
Abstract: Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a… read more here.
Keywords: challenges rare; heterozygous gba; diseases diagnostics; incontinentia pigmenti ... See more keywords