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Incontinentia

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https://www.readbyqxmd.com/read/29664986/optical-coherence-tomography-angiography-and-ultra-widefield-optical-coherence-tomography-in-a-child-with-incontinentia-pigmenti
#1
Sang Jin Kim, Jianlong Yang, Gangjun Liu, David Huang, J Peter Campbell
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder that can cause retinal nonperfusion, neovascularization, and retinal detachment. Evaluation of the peripheral retinal vasculature and appropriate treatment can reduce the risk of blindness. The authors report the use of a handheld prototype optical coherence tomography angiography (OCTA) and ultra-widefield OCT (UWF-OCT) during exam under anesthesia of a 2-year-old with a history of severe early onset IP. UWF-OCT and OCTA may be used as noninvasive imaging modalities for IP and similar retinal vascular disorders in supine young children...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29566114/multimodal-retinal-imaging-in-incontinentia-pigmenti-including-optical-coherence-tomography-angiography-findings-from-an-older-cohort-with-mild-phenotype
#2
Tin Yan Alvin Liu, Ian C Han, Morton F Goldberg, Marguerite O Linz, Connie J Chen, Adrienne W Scott
Importance: Incontinentia pigmenti (IP) is a rare, X-linked dominant disease with potentially severe ocular complications that predominantly affect the peripheral retina. However, little is known about its effects on the macula. Objective: To describe the structural and vascular abnormalities observed in the maculas of patients with IP and to correlate these findings with peripheral pathologies. Design, Setting, and Participants: Prospective, cross-sectional study at Wilmer Eye Institute, Johns Hopkins University...
March 22, 2018: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29520766/a-novel-ikbkg-mutation-in-a-patient-with-incontinentia-pigmenti-and-features-of-hepatic-ciliopathy
#3
Sorina Danescu, Cristina Has, Corina Baican, Thomas Müller, Adrian Baican
We describe a new mutation in exon 4 of IKBKG, encoding nuclear factor-kappa B in a patient with incontinentia pigmenti. The patient had a severe cholestatic liver disease with features of a ciliopathy and underwent liver transplantation. We cannot establish a link between incontinentia pigmenti, a very rare disease, and hepatic ciliopathy, but we suggest that hepatic evaluation should be considered in patients with incontinentia pigmenti.
March 8, 2018: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/29440854/whorled-scarring-alopecia-the-only-adult-marker-of-incontinentia-pigmenti
#4
Urvi Popli, Paul Devakar Yesudian
Incontinentia pigmenti (IP) is a rare X-linked dominant disease that affects the ectodermal tissues. It is associated with a whorled pattern of scarring alopecia, which is possibly underreported. This scarring alopecia could be used as a marker to identify adult women affected with IP as older patients may have minimal cutaneous manifestations. We report an unusual case of an 8-year-old girl who had recurrent inflammatory stage IP and later developed whorled scarring alopecia in the vertex of the scalp.
January 2018: International Journal of Trichology
https://www.readbyqxmd.com/read/29432239/neurocutaneous-disorders
#5
Tena Rosser
PURPOSE OF REVIEW: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. RECENT FINDINGS: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29344471/a-6-month-old-girl-with-incontinentia-pigmenti-presenting-as-status-epilepticus
#6
Moon Young Seo, Su Jeong You, Soung Hee Kim, Woo Ho Cho, Jong Hee Chae
Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome. Its initial diagnosis is based primarily on characteristic papulovesicular skin lesions and early-onset neonatal seizures. In contrast to typical early neurologic manifestations, we encountered a normally developed 6-month-old female patient with hyperpigmented whorls on her body. Following respiratory syncytial virus infection and fever, the patient exhibited status epilepticus. Brain magnetic resonance imaging studies of the patient were compatible with the findings of acute encephalopathy in IP...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29260049/incontinentia-pigmenti-with-secondary-raynaud-s-phenomenon-a-case-report-and-review-of-the-literature
#7
Margaret A Greven, Darius M Moshfeghi
Purpose: To describe a patient with incontinentia pigmenti (IP) and Raynaud's phenomenon (RP). Observations: A 5 year-old girl with history of IP was noted to have RP. Visual acuity was unaffected in both eyes, and fundus examination demonstrated regressed peripheral neovascularization. Photos of the patient's hands demonstrated pale discoloration associated with exposure to cold. Conclusions and importance: IP, known to affect small cerebral and retinal blood vessels, can also affect the small blood vessels in the extremities, resulting in secondary RP...
June 2017: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29197078/cardiopulmonary-anomalies-in-incontinentia-pigmenti-patients
#8
Giuliana Onnis, Andrea Diociaiuti, Paola Zangari, Patrizia D'Argenio, Caterina Cancrini, Lorenzo Iughetti, May El Hachem
BACKGROUND: Incontinentia pigmenti (IP) is a rare inherited genodermatosis that usually involves the skin, and also teeth, oral cavity, central nervous system, eyes, blood with eosinophilia, and rarely skeletal system, breast, heart, and lungs. Skin lesions usually appear early, at birth or within the first 2 weeks of life, with four different phases tending to follow Blaschko lines that may overlap. CASE REPORT: We report a rare case of a neonate with transient reversible pulmonary hypertension that presented at day 9 of life...
January 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29171168/pilocytic-astrocytoma-with-leptomeningeal-spread-in-a-patient-with-incontinentia-pigmenti-presenting-with-unilateral-nystagmus
#9
Cheryl B Bayart, Gisele E Ishak, Laura S Finn, Amy Lee, Francine Baran, Angela Sun, Deepti Gupta, Nicholas A Vitanza
Incontinentia pigmenti (IP) is a genetic disorder caused by mutations in IKBKG, leading to functional loss of nuclear factor kappa B (NF-ĸB). We report the case of a 6-month-old female child with IP who presented with unilateral nystagmus and was found to have a pilocytic astrocytoma with leptomeningeal spread. Enhanced understanding of the relationship between NF-ĸB, along with its upstream regulators, and tumorigenesis may shed light on whether a subset of patients with IP may be at increased risk for neoplasia...
March 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29128367/nemo-links-nuclear-factor-%C3%AE%C2%BAb-to-human-diseases
#10
REVIEW
Gunter Maubach, Michael Naumann
The nuclear factor (NF)-κB essential modulator (NEMO) is a key regulator in NF-κB-mediated signaling. By transmitting extracellular or intracellular signals, NEMO can control NF-κB-regulated genes. NEMO dysfunction is associated with inherited diseases such as incontinentia pigmenti (IP), ectodermal dysplasia, anhidrotic, with immunodeficiency (EDA-ID), and some cancers. We focus on molecular studies, human case reports, and mouse models emphasizing the significance of NEMO molecular interactions and modifications in health and diseases...
December 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28993958/functional-evaluation-of-an-ikbkg-variant-suspected-to-cause-immunodeficiency-without-ectodermal-dysplasia
#11
Glynis Frans, Jutte van der Werff Ten Bosch, Leen Moens, Rik Gijsbers, Majid Changi-Ashtiani, Hassan Rokni-Zadeh, Mohammad Shahrooei, Greet Wuyts, Isabelle Meyts, Xavier Bossuyt
Hypomorphic IKBKG mutations in males are typically associated with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Some mutations cause immunodeficiency without EDA (NEMO-ID). The immunological profile associated with these NEMO-ID variants is not fully documented. We present a 2-year-old patient with suspected immunodeficiency in which a hemizygous p.Glu57Lys IKBKG variant was identified. At the age of 1 year, he had an episode of otitis media that evolved into a bilateral mastoiditis (Pseudomonas spp)...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28937389/incontinentia-pigmenti-an-x-linked-dominant-disorder-in-a-2-year-old-boy-with-klinefelter-syndrome
#12
Abhilasha Williams, Laxmisha Chandrashekar, Vivi M Srivastava, Meera Thomas, Saban Horo, Renu George
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder, in which skin lesions distributed along Blaschko's lines appear shortly after birth. Early lesions which are erythematous/bullous evolve over time into warty lesions, hyperpigmented swirls/macules, and atrophic hypopigmented streaks. Clinical features are heterogeneous. Abnormalities of the teeth, nails, hair, eyes, central nervous system, and breast may also be present. While intelligence is generally normal, varied degrees of intellectual disability/developmental delay have been reported...
July 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28932485/incontinentia-pigmenti-in-a-child-with-suspected-retinoblastoma
#13
Stephanie J Weiss, Archana Srinivasan, Michael A Klufas, Carol L Shields
BACKGROUND: Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can resemble retinoblastoma, especially when vitreoretinal fibrosis produces leukocoria. CASE REPORT: A 2-month-old girl born full-term presented with leukocoria, suspicious for retinoblastoma...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28870493/incontinentia-pigmenti-a-summary-review-of-this-rare-ectodermal-dysplasia-with-neurologic-manifestations-including-treatment-protocols
#14
Carol Greene-Roethke
Incontinentia pigmenti is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene (formerly known as NEMO). There are 27.6 new cases per year worldwide; 65% to 75% are sporadic mutations, and 25% to 35% are familial. It is usually lethal in males, but females survive because of X-inactivation mosaicism. The disorder is typically identified by unique skin findings, a series of four stages that emerge throughout the first year of life. The central nervous system manifestations in the eye and in the brain cause the most disability...
November 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28794079/unusual-father-to-daughter-transmission-of-incontinentia-pigmenti-due-to-mosaicism-in-ip-males
#15
Francesca Fusco, Matilde Immacolata Conte, Andrea Diociaiuti, Stefania Bigoni, Maria Francesca Branda, Alessandra Ferlini, Maya El Hachem, Matilde Valeria Ursini
Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of κ polypeptide gene enchancer in B cells, kinase γ (IKBKG)/ nuclear factor κB, essential modulator (NEMO) gene. Hemizygous IKBKG/NEMO loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission of IP and provide for the first time molecular evidence that the combination of somatic and germ-line mosaicism for IKBKG/NEMO loss of function mutations in IP males resulted in the transmission of the disease to a female child...
September 2017: Pediatrics
https://www.readbyqxmd.com/read/28791733/incontinentia-pigmenti-in-a-male-xy-infant-with-long-term-follow-up-over-8-years
#16
Yasushi Matsuzaki, Akiko Rokunohe, Satoko Minakawa, Kazuo Nomura, Hajime Nakano, Etsuro Ito, Daisuke Sawamura
Incontinentia pigmenti (IP) is an X-linked genodermatosis affecting the skin and other sites, including the teeth, nails, hair, eyes and nervous system defects in female patients. Generally lethal in males, there are only a few known cases of males surviving this condition. Nuclear factor (NF)-κB essential modulator (NEMO), also known as inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG), constitutes an essential activator of NF-κB. Over 80% of female patients with IP carry a common deletion mutation involving exons 4-10 of the IKBKG/NEMO gene...
January 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/28729805/dental-treatment-considerations-for-a-pediatric-patient-with-incontinentia-pigmenti-bloch-sulzberger-syndrome
#17
Amy Yi-Ling Chen, Kevin Chen
Incontinentia pigmenti (IP) is a uncommon gene disorder, heritage with X-linked dominant mode. IP patients have a characteristic dentition varying from marked hypodontia to delayed eruption and conical crowns on both dentitions. A 5½-year-old girl, whose mother and younger sister were also diagnosed with IP, has the whirling-like pigmented skin lesion over her trunk and four extremities. Four primary teeth and multiple permanent tooth germs were found to be congenital missing. Dental considerations of further treatment were discussed with her parents including the preservation of primary molars, possible interim prosthesis in mixed or permanent dentition, full mouth rehabilitation with orthodontic and prosthodontic combined treatment, and implant therapy in adulthood...
April 2017: European Journal of Dentistry
https://www.readbyqxmd.com/read/28711407/severe-neuroimaging-anomalies-are-usually-associated-with-random-x-inactivation-in-leucocytes-circulating-dna-in-x-linked-dominant-incontinentia-pigmenti
#18
Volodia Dangouloff-Ros, Smail Hadj-Rabia, Judite Oliveira Santos, Elodie Bal, Isabelle Desguerre, Manoelle Kossorotoff, Isabelle An, Asma Smahi, Christine Bodemer, Arnold Munnich, Julie Steffann, Nathalie Boddaert
Incontinentia Pigmenti (IP) is a skin disorder with neurological impairment in 30% of cases. The most common disease causing mutation is a deletion of exons 4-10 of the IKBKG gene, located on chromosome Xq28, with skewed X-chromosome inactivation in females, but few cases of random X-inactivation have been reported. We have correlated brain anomalies with X-chromosome inactivation status determined on leucocytes circulating DNA. We reviewed MRI of 18 girls with genetically proven IP. We found three patterns of MRI, normal MRI (n=5), mild white matter abnormalities with cortical and corpus callosum atrophy (n=6), and severe cortical abnormalities suggesting a vascular disease (n=7)...
November 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28702714/immunodeficiency-in-two-female-patients-with-incontinentia-pigmenti-with-heterozygous-nemo-mutation-diagnosed-by-lps-unresponsiveness
#19
Hidenori Ohnishi, Yuka Kishimoto, Tomohide Taguchi, Norio Kawamoto, Mina Nakama, Tomoki Kawai, Manabu Nakayama, Osamu Ohara, Kenji Orii, Toshiyuki Fukao
PURPOSE: Anhidrotic 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 hypomorphic mutation of NEMO causes EDA-ID in males. In general, immunodeficiency is not shown in IP patients. Here, we investigated two female patients with IP and immunodeficiency. METHODS: The patients were initially suspected to have IRAK4 deficiency and Mendelian susceptibility to mycobacterial disease, respectively, because of recurrent pneumonia with delayed umbilical cord detachment or disseminated mycobacterial infectious disease...
August 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28643725/a-7-year-old-female-child-of-incontinentia-pigmenti-presenting-with-vitreous-hemorrhage
#20
Sung-Ying Huang, Lee-Jen Chen, Sheng-Chun Chiu
Incontinentia pigmenti (IP) is a rare disease with multisystemic anomalies, which commonly presents just after birth. Here, we report a rare case of IP patient with vitreous hemorrhage in school-age children. Therefore, physicians have to be alert and evaluate IP patients at all ages. Regular ophthalmic follow-up is necessary, and fluorescein angiography should be performed if peripheral ischemia or neovascularization is suspected. The effect of peripheral laser ablation on peripheral retinal nonperfusion is not clear and merits further study...
June 2017: Indian Journal of Ophthalmology
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