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Incontinentia

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https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#1
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28414858/keratoacanthoma-like-growths-of-incontinentia-pigmenti-successfully-treated-with-intralesional-methotrexate
#2
Brittany Barros, Klaus Helm, Andrea Zaenglein, Elizabeth Seiverling
We report the case of a 17-year-old girl with incontinentia pigmenti who developed multiple large hyperkeratotic tumors within Blaschkoid hyperpigmented patches on her left leg. Biopsy demonstrated an endoexophytic nodule with irregular invaginations of keratinizing squamous epithelium and a central keratin-filled crater, consistent with keratoacanthoma-like lesions of incontinentia pigmenti. The tumors were successfully treated with intralesional methotrexate.
April 17, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28394857/multiple-squamous-cell-carcinomas-arising-in-hyperpigmented-patches-a-newly-recognized-feature-of-incontinentia-pigmenti
#3
Bevin Bhoyrul, Calum Lyon, Graeme Stables
No abstract text is available yet for this article.
April 6, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28249776/lack-of-interaction-between-nemo-and-sharpin-impairs-linear-ubiquitination-and-nf-%C3%AE%C2%BAb-activation-and-leads-to-incontinentia-pigmenti
#4
Elodie Bal, Emmanuel Laplantine, Yamina Hamel, Virginie Dubosclard, Bertrand Boisson, Alessandra Pescatore, Capucine Picard, Smaïl Hadj-Rabia, Ghislaine Royer, Julie Steffann, Jean-Paul Bonnefont, Valeria M Ursini, Pierre Vabres, Arnold Munnich, Jean-Laurent Casanova, Christine Bodemer, Robert Weil, Fabrice Agou, Asma Smahi
BACKGROUND: Incontinentia pigmenti (IP; MIM308300) is a severe, male-lethal, X-linked, dominant genodermatosis resulting from loss-of-function mutations in the IKBKG gene encoding nuclear factor κB (NF-κB) essential modulator (NEMO; the regulatory subunit of the IκB kinase [IKK] complex). In 80% of cases of IP, the deletion of exons 4 to 10 leads to the absence of NEMO and total inhibition of NF-κB signaling. Here we describe a new IKBKG mutation responsible for IP resulting in an inactive truncated form of NEMO...
February 27, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28196317/common-skin-conditions-in-children-noninfectious-rashes
#5
Brian Z Rayala, Dean S Morrell
Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Emollients and topical corticosteroids are first-line therapies. Topical calcineurin inhibitors are second-line, steroid-sparing drugs for certain conditions, such as face and eyelid eczema...
February 2017: FP Essentials
https://www.readbyqxmd.com/read/28127322/a-multidisciplinary-approach-to-a-seven-year-old-patient-with-incontinentia-pigmenti-a-case-report-and-five-year-follow-up
#6
Rezvan Rafatjou, Fariborz Vafaee, Hanif Allahbakhshi, Porousha Mahjoub
Incontinentia pigmenti is a rare inherited disorder involving abnormalities of the skin, hair, eyes, musculoskeletal system, central nervous system, and the teeth. Dental abnormalities are the most common manifestations of this disorder. The purpose of this case report was to present the clinical and radiological findings of a seven-year-old girl as well as the results of her five-year follow up. The patient showed faded linear pigmented macular lesions on the trunk and on upper and lower limbs. Dental examination was notable for conical and peg-shaped anterior teeth as well as delayed eruption of primary and permanent teeth...
August 2016: Journal of Dentistry of Tehran University of Medical Sciences
https://www.readbyqxmd.com/read/28112979/ocular-manifestations-in-the-x-linked-intellectual-disability-syndromes
#7
Natario L Couser, Maheer M Masood, Arthur S Aylsworth, Roger E Stevenson
Intellectual disability (ID), a common neurodevelopmental disorder characterized by limitations of both intellectual functioning and adaptive behavior, affects an estimated 1-2% of children. Genetic causes of ID are often accompanied by recognizable syndromal patterns. The vision apparatus is a sensory extension of the brain, and individuals with intellectual disabilities frequently have coexisting abnormalities of ocular structures and the visual pathway system. About one-third of the X-linked intellectual disability (XLID) syndromes have significant eye or ocular adnexa abnormalities that provide important diagnostic clues...
January 23, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27832283/novel-macular-findings-on-optical-coherence-tomography-in-incontinentia-pigmenti
#8
Scott M McClintic, Lorri B Wilson, J Peter Campbell
No abstract text is available yet for this article.
November 10, 2016: JAMA Ophthalmology
https://www.readbyqxmd.com/read/27766487/dental-anomalies-in-14-patients-with-ip-clinical-and-radiological-analysis-and-review
#9
Fernanda D Santa-Maria, Luiza Monteavaro Mariath, Cláudia S Poziomczyk, Marcia A P Maahs, Rafael F M Rosa, Paulo R G Zen, Lavínia Schüller-Faccini, Ana Elisa Kiszewski
OBJECTIVES: Current knowledge on dental anomalies in patients with incontinentia pigmenti (IP) has been obtained by examining case reports; however, an overall characterization of such alterations remains lacking. The objective of this study was to determine the frequency, type and location of dental alterations in IP using a case series. METHODS: Fourteen patients (9 children and 5 adults) with a clinical diagnosis of IP who presented dental anomalies were included in this study...
October 20, 2016: Clinical Oral Investigations
https://www.readbyqxmd.com/read/27617597/incontinentia-pigmenti-presenting-as-a-newborn-eruption-two-case-presentations
#10
Michelle Xu, Alexandra Flamm, Devorah Shagalov, Emily Hsu, Sharon A Glick
Linear vesicles or papules in a newborn can be a presenting sign of incontinentia pigmenti (IP). In this report, we present two cases of neonates with cutaneous manifestations of incontinentia pigmenti. In one case, mild peripheral eosinophilia was noted. No extra-cutaneous manifestations were noted otherwise in both cases after complete ophthalmological and neurological evaluations. These cases serve as a reminder for clinicians to consider IP in newborns presenting with linear vesicles or papules.
June 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27602400/incontinentia-pigmenti-a-rare-multisystem-disorder-case-report-of-a-10-year-old-girl
#11
Rezvan Rafatjoo, Amene Taghdisi Kashani
Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected such as the central nervous system, eyes, hair, nails and teeth. The disease has an X-linked dominant inheritance pattern. But in our case, there was a mutation in the body cells due to incontinentia pigmenti. The dermatological findings occur in four successive phases. We report the case of a 10-year-old female presented cutaneous, dental and ophthalmic characteristic with 3 years follow-up...
September 2016: Journal of Dentistry
https://www.readbyqxmd.com/read/27586688/super-resolution-microscopy-reveals-a-preformed-nemo-lattice-structure-that-is-collapsed-in-incontinentia-pigmenti
#12
Janine Scholefield, Ricardo Henriques, Anca F Savulescu, Elisabeth Fontan, Alix Boucharlat, Emmanuel Laplantine, Asma Smahi, Alain Israël, Fabrice Agou, Musa M Mhlanga
The NF-κB pathway has critical roles in cancer, immunity and inflammatory responses. Understanding the mechanism(s) by which mutations in genes involved in the pathway cause disease has provided valuable insight into its regulation, yet many aspects remain unexplained. Several lines of evidence have led to the hypothesis that the regulatory/sensor protein NEMO acts as a biological binary switch. This hypothesis depends on the formation of a higher-order structure, which has yet to be identified using traditional molecular techniques...
September 2, 2016: Nature Communications
https://www.readbyqxmd.com/read/27584961/genetic-disorders-with-dyshidrosis-ectodermal-dysplasia-incontinentia-pigmenti-fabry-disease-and-congenital-insensitivity-to-pain-with-anhidrosis
#13
REVIEW
Mari Wataya-Kaneda
Sweating is regulated by various neurohormonal mechanisms. A disorder in any part of the sweating regulatory pathways, such as the thermal center, neurotransmitters in the central to peripheral nerve, innervation of periglandular neurotransmission, and sweat secretion in the sweat gland itself, induces dyshidrosis. Therefore, hereditary disorders with dyshidrosis result from a variety of causes. These diseases have characteristic symptoms derived from each pathogenesis besides dyshidrosis. The information in this chapter is useful for the differential diagnosis of representative genetic disorders with dyshidrosis...
2016: Current Problems in Dermatology
https://www.readbyqxmd.com/read/27576549/-incontinentia-pigmenti-herpes-simplex-infection-as-an-important-differential-diagnosis-in-the-neonatal-period
#14
A-C Rosenthal, R Fölster-Holst
In this article we present the case of a 2-day-old newborn girl in good general condition, with herpetic arranged pustules on the skin of her whole body. The case highlights the importance of a detailed diagnostic workup for newborns with pustular skin disease. Especially to differentiate between the diagnosis of incontinentia pigmenti and a congenital herpes infection.
August 30, 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27560715/nemo-regulates-a-cell-death-switch-in-tnf-signaling-by-inhibiting-recruitment-of-ripk3-to-the-cell-death-inducing-complex-ii
#15
Alessandra Pescatore, Elio Esposito, Peter Draber, Henning Walczak, Matilde Valeria Ursini
Incontinentia Pigmenti (IP) is a rare X-linked disease characterized by early male lethality and multiple abnormalities in heterozygous females. IP is caused by NF-κB essential modulator (NEMO) mutations. The current mechanistic model suggests that NEMO functions as a crucial component mediating the recruitment of the IκB-kinase (IKK) complex to tumor necrosis factor receptor 1 (TNF-R1), thus allowing activation of the pro-survival NF-κB response. However, recent studies have suggested that gene activation and cell death inhibition are two independent activities of NEMO...
August 25, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27472514/successful-treatment-of-refractory-proliferative-retinopathy-of-incontinentia-pigmenti-by-intravitreal-ranibizumab-as-adjunct-therapy-in-a-4-year-old-child
#16
Mary Ho, Wilson W K Yip, Vesta C K Chan, Alvin L Young
PURPOSE: To describe a case of incontinentia pigmenti with proliferative retinopathy successfully treated by combination of repeated retinal laser photocoagulation and intravitreal ranibizumab injection. METHODS: Single interventional case report of a 4-year-old girl, known case of incontientia pigmenti, first screened at the age of two, presented with proliferative retinopathy. Sole treatment by panretinal laser photocoagulation failed to control the progression of retinal neovascularization...
July 28, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27435916/myeloid-deletion-of-nemo-causes-osteopetrosis-in-mice-owing-to-upregulation-of-transcriptional-repressors
#17
Gaurav Swarnkar, Kyuhwan Shim, Amjad M Nasir, Kuljeet Seehra, Hung-Po Tim Chen, Gabriel Mbalaviele, Yousef Abu-Amer
The transcription factor NF-κB is central to numerous physiologic processes including bone development, and its activation is controlled by IKKγ (also called NEMO), the regulatory subunit of IKK complex. NEMO is X-linked, and mutations in this gene result in Incontinentia Pigmenti in human hemizygous females. In mice, global deficiency causes embryonic lethality. In addition, certain point mutations in the NEMO (IKBKG) human gene manifest skeletal defects implicating NEMO in the regulation of bone homeostasis...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27432683/neurocutaneous-syndromes
#18
REVIEW
Nitasha Klar, Bernard Cohen, Doris D M Lin
Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases...
2016: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/27412134/incontinentia-pigmenti-with-persistent-hypercalcemia-case-report
#19
Jacob Adashek, Weiyi Mu, Jacquelyn Francis, Bernard Cohen, Cozumel Pruette, Annie Grossberg, Joann Bodurtha
Incontinentia pigmenti (IP) is an X-linked dominant disorder that in most cases is considered lethal in males. IP affects the skin, hair, teeth, nails, eyes, and central nervous system. We report a case of persistent hypercalcemia (10.6-11.3 mg/dL) in a 19-month-old Caucasian boy with clinical IP. The proposed mechanism for his hypercalcemia is discussed.
September 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27396921/incontinentia-pigmenti-coxsackium
#20
Julie Jefferson, Anna Grossberg
Late recurrences of first-stage inflammatory vesiculobullous lesions of incontinentia pigmenti (IP) are uncommon but have been reported to occur in the setting of infections, fevers, and vaccinations. This phenomenon has not been described in the setting of atypical hand, foot, and mouth disease (HFMD). In addition, atypical HFMD often has a predilection for areas of previous inflammation or trauma, such as areas of atopic dermatitis (eczema coxsackium). We present a case of incontinentia pigmenti coxsackium in which a coxsackievirus infection triggered reactivation of IP and cutaneous viral lesions were concentrated in areas of IP...
September 2016: Pediatric Dermatology
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