Necrotizing enterocolitis after intravitreal bevacizumab in an infant with Incontinentia Pigmenti - a case report.

Background: Incontinentia Pigmenti is a rare disease affecting multiple organs. Fifty of patients show affection of the eye with retinopathy and possible amaurosis being the worst outcome. Treatment has commonly been panretinal laser coagulation but intravitreal application of bevacizumab as VEGF-inhibitor has shown to effectively suppress retinal neovascularization.

Hypomelanosis of Ito with Multiple Congenital Anomalies.

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies.

A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension.

We describe a female infant with incontinentia pigmenti complicated by severe pulmonary arterial hypertension that was markedly improved by tadalafil administration. The infant was referred to our institution because of neonatal seizures and generalized skin rash at the age of 1 day. She was diagnosed with incontinentia pigmenti on skin biopsy findings.

The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide.

Incontinentia pigmenti (IP; OMIM#308300) is a rare genetic disease resulting in neuroectodermal defects, which can lead to disability. At present, there is neither definitive cure available nor are there any sufficiently reliable insights to predict the severity of the disease. We launched the Incontinentia Pigmenti Genetic Biobank (IPGB) project ( http://www.

Ultra-widefield fundus fluorescein angiography in pediatric retinal vascular diseases.

Purpose: To describe the utility of RetCam ultra-wide-field fundus fluorescein angiography in pediatric retinal vascular diseases.

Methods: A retrospective chart review was carried out in 43 eyes of 22 pediatric patients who were diagnosed or suspected to have a retinal vascular disease. Fluorescein angiography was carried out using the 130 degree lens of RetCam 3.

Incontinentia pigmenti in adults.

Incontinentia Pigmenti (IP; MIM 308300) is an X-linked dominant genodermatosis caused by pathogenic variant in IKBKG. The phenotype in adults is poorly described compared to that in children. Questionnaire survey of 99 affected women showed an age at diagnosis from newborn to 41 years, with 53 diagnosed by 6 months of age and 30 as adults.

[Incontinentia pigmenti. A descriptive study of experience in two different hospitals].

Introduction: Incontinentia pigmenti is a rare genodermatosis of inheritance linked to the Xchromosome that affects tissues derived from ectoderm. The aim of the study is to review, as completely as possible, the cases diagnosed in paediatric patients in two hospitals.

Material And Methods: A retrospective cross-sectional study was carried out, using the clinical, analytical, radiological, and genetic data of paediatric patients diagnosed with incontinentia pigmenti from 2004 to 2018.

Questionnaire survey on association between preeclampsia and incontinentia pigmenti.

Aim: In this study, a questionnaire survey was conducted to find the relationship between preeclampsia (PE) and incontinentia pigmenti (IP).

Methods: Using a questionnaire survey of 147 women whose children were diagnosed with IP, this study first investigated their clinical manifestations and complications during pregnancy. The manifestations included high blood pressure, proteinuria and edema after 20 weeks of gestation.

[Laser therapy in ocular involvement after diagnosis of incontinentia pigmenti in a child].

Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life.

[Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor].

To investigate the treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor. Retrospective study of 5 patients(8 eyes) diagnosed retinopathy of incontinentia pigmenti from 2005 to 2017, including 0 males and 5 females (8 eyes involved) with an average age of 2.4 months(range, 1-5 months).

A novel inhibitor of nuclear factor kappa-B kinase subunit gamma mutation identified in an incontinentia pigmenti patient with syndromic tooth agenesis.

Objective: To explore the gene mutation in an incontinentia pigmenti (IP) patient with syndromic tooth agenesis.

Methods: Long-range polymerase chain reaction (PCR) and Sanger sequencing were used to detect inhibitor of nuclear factor kappa-B kinase subunit gamma (IKBKG) mutation in the IP patient. We used the nuclear factor kappa B (NF-κB) reporter gene to assess activation of NF-κB, after transfecting an empty vector, wild-type, or mutant NF-κB essential modulator (NEMO) plasmid into IKBKG-deficient HEK293T cells, respectively.

Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants.

Background: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that affects multiple systems with highly variable phenotypic expressivity. Although most affected individuals carry a common pathogenic variant on the IKBKG gene, approximately 20% have no identifiable mutation.

Objective: To describe clinical characteristics and genotype of IP patients and compare clinical differences between IKBKG pathogenic variant positive and negative cohorts.

Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases.

Multicystic dysplastic kidney is a congenital kidney malformation consisting of multiple cysts of various sizes without a normal kidney morphology. Incontinentia pigmenti is a rare X-linked dominant genodermatosis, which is usually lethal in males, that presents clinically in 4 stages. Here, we report a case of multicystic dysplastic kidney with ureterovesical junction obstruction and incontinentia pigmenti.