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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
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.
2016: Dermatology Online Journal
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
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...
2016: Nature Communications
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
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
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...
2016: Cell Death & Disease
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
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
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
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
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
Ryan Batson, Brett H Keeling, Lucia Z Diaz
No abstract text is available yet for this article.
September 2016: Journal of Pediatrics
Dimitra Kiritsi, Manthoula Valari, Athanasios Michos, Vaia Karakosta, Cristina Has
No abstract text is available yet for this article.
June 13, 2016: European Journal of Dermatology: EJD
Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, Loredana Canzano, Liana Palermo, Francesca Fusco, Giovanni D'Antuono, Chiara Gelmini, Livia Garavelli, Matilde Valeria Ursini
Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile in children in order to plan a clinical intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a cognitive assessment including intelligence scales, language and visuo-spatial competence tests, learning ability tests, and a behavioural assessment...
June 7, 2016: Applied Neuropsychology. Child
Zhenjiang Ding, Wei Sheng, Shu Zhu
No abstract text is available yet for this article.
May 2016: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
Nina Poliak, Alexandre Le, Anthony Rainey
We present a 12-month-old Hispanic female with a reticulated, hyperchromic rash in a striated pattern appearing on upper and lower extremities and trunk and back since the age of 6 weeks. Over the next 10 months, the rash persisted. The rash did not respond to treatment with antifungals and steroids. During her 6-month wellness visit, the patient was diagnosed with incontinentia pigmenti (IP), a rare X-linked dominant disorder, fatal to male fetuses in utero. IP can lead to serious neurological and ophthalmologic consequences...
2016: Case Reports in Pediatrics
Kenji Yasuda, Noriaki Minami, Yoko Yoshikawa, Takeshi Taketani, Seiji Fukuda, Seiji Yamaguchi
We report the case of an infant girl with incontinentia pigmenti (IP) complicated by fatal pulmonary arterial hypertension (PAH). She was diagnosed with IP, based on the presence of specific skin lesions, neonatal seizures, hypereosinophilia and a maternal family history of IP. At the age of 2 months, she was diagnosed with PAH on systolic heart murmur due to tricuspid valve regurgitation. Despite several treatments for PAH but not including epoprostenol, severe PAH persisted and she died of pulmonary hypertensive crisis at the age of 5 months...
May 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Andrea Poretti, Frances J Northington
No abstract text is available yet for this article.
October 2016: Developmental Medicine and Child Neurology
Jakob Körbelin, Godwin Dogbevia, Stefan Michelfelder, Dirk A Ridder, Agnes Hunger, Jan Wenzel, Henning Seismann, Melanie Lampe, Jacqueline Bannach, Manolis Pasparakis, Jürgen A Kleinschmidt, Markus Schwaninger, Martin Trepel
Gene therapy critically relies on vectors that combine high transduction efficiency with a high degree of target specificity and that can be administered through a safe intravenous route. The lack of suitable vectors, especially for gene therapy of brain disorders, represents a major obstacle. Therefore, we applied an in vivo screening system of random ligand libraries displayed on adeno-associated viral capsids to select brain-targeted vectors for the treatment of neurovascular diseases. We identified a capsid variant showing an unprecedented degree of specificity and long-lasting transduction efficiency for brain microvasculature endothelial cells as the primary target of selection...
2016: EMBO Molecular Medicine
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