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https://www.readbyqxmd.com/read/29341518/harlequin-ichthyosis-a-case-report
#1
C H Ugezu, A Mazumdar, E Dunn, A Das
Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased...
August 8, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#2
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29323665/arterial-tortuosity-syndrome-40-new-families-and-literature-review
#3
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Diéz, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#4
Shanshan Mao, Qi Long, Huijia Lin, Jinling Liu
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation (TSC2c.1642_1643insA or TSC2p.K549fsX589), in which multiple cardiac rhabdomyomas were detected by fetal echocardiography in week 31 of pregnancy. The infant was delivered successfully; however, seizures began 16 days following birth. Subsequent genetic tests confirmed a diagnosis of TSC. Rapamycin treatment resulted in regression of cardiac rhabdomyomas and controlled seizures...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29218131/hypocalcemia-associated-with-subcutaneous-fat-necrosis-of-the-newborn-case-report-and-literature-review
#5
Alphonsus N Onyiriuka, Theodora E Utomi
Subcutaneous fat necrosis of the newborn (SCFNN) is a rare benign inflammatory disorder of the adipose tissue but may be complicated by hypercalcemia or less frequently, hypocalcemia, resulting in morbidity and mortality. Here we report the case of a neonate with subcutaneous fat necrosis who surprisingly developed hypocalcemia instead of hypercalcemia. A full-term female neonate was delivered by emergency cesarean section for fetal distress and was subsequently admitted to the Special Care Baby Unit. The mother's pregnancy was uncomplicated up to delivery...
November 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/29204384/approach-to-a-child-with-primary-immunodeficiency-made-simple
#6
REVIEW
Dhrubajyoti Sharma, Ankur K Jindal, Amit Rawat, Surjit Singh
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood...
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29058251/cutaneous-lesions-and-disorders-in-healthy-neonates-and-their-relationships-with-maternal-neonatal-factors-a-cross-sectional-study
#7
Rita Ábrahám, Angéla Meszes, Zita Gyurkovits, Judit Bakki, Hajnalka Orvos, Zsanett Renáta Csoma
BACKGROUND: Cutaneous lesions are very common in neonates. Although a number of studies have reported on their incidence, very little is known about the factors that influence them. We set out to investigate a large population of neonates with the aims of achieving an overall picture of neonatal skin manifestations, and examining their relationships with various maternal, neonatal and perinatal factors. METHODS: This study was conducted on neonates born at the Department of Obstetrics and Gynaecology at the University of Szeged between June 2013 and July 2015...
December 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28967509/skin-antisepsis-with-0-05-sodium-hypochlorite-before-central-venous-catheter-insertion-in-neonates-a-2-year-single-center-experience
#8
Matilde Ciccia, Roksana Chakrokh, Dario Molinazzi, Angela Zanni, Patrizia Farruggia, Fabrizio Sandri
AIM: The study reports a 2-year single-center experience of the practice of skin antisepsis using a 0.05% sodium hypochlorite solution before central venous catheter placement in neonates. METHODS: Eligible subjects included any hospitalized neonate who needed a central line for at least 48 hours. Infants were excluded if they had a generalized or localized skin disorder. An ad hoc Excel (Microsoft Corp, Redmond, WA) file was used to record the data from each patient...
September 26, 2017: American Journal of Infection Control
https://www.readbyqxmd.com/read/28935253/effects-of-nerolidol-and-limonene-on-stratum-corneum-membranes-a-probe-epr-and-fluorescence-spectroscopy-study
#9
Sebastião Antonio Mendanha, Cássia Alessandra Marquezin, Amando Siuiti Ito, Antonio Alonso
The sesquiterpene nerolidol and the monoterpene limonene are potent skin-permeation enhancers that have also been shown to have antitumor, antibacterial, antifungal and antiparasitic activities. Because terpenes are membrane-active compounds, we used electron paramagnetic resonance (EPR) spectroscopy of three membrane spin labels combined with the fluorescence spectroscopy of three lipid probes to study the interactions of these terpenes with stratum corneum (SC) intercellular membranes. An experimental apparatus was developed to assess the lipid fluidity of hydrated SC membranes via the fluorescence anisotropy of extrinsic membrane probes...
September 19, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28899405/neonatal-hemolytic-anemia-does-not-always-indicate-thalassemia-a-case-report
#10
Arwa A Al-Harazi, Bilguis M Al-Eryani, Butheinah A Al-Sharafi
BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly...
September 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28884798/neonatal-skin-care-what-should-we-do-a-four-week-follow-up-randomized-controlled-trial-at-zagazig-university-hospitals
#11
Mohamed Amer, Nagwa Diab, Mohamed Soliman, Amin Amer
INTRODUCTION: Taking care of newborn skin is necessary to avoid skin infections. The normal daily exposure to external factors affects the skin negatively. Skin hygiene and proper skin cleansing as well as protection of the infant skin barrier are essential to maintain barrier function and overall infant health. AIM: The aim of this work is to assess the neonatal skin care effectiveness in promotion of normal skin development and protection of the optimal skin function by avoiding the different neonatal skin disorders which cause skin infection...
November 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28871316/-red-scaly-baby-a-pediatric-dermatological-emergency-clinical-and-differential-diagnoses-of-neonatal-erythroderma
#12
REVIEW
H Ott, J Grothaus
Neonatal, ichthyosiform erythroderma is rare and may be associated with primarily cutaneous disorders as well as with a broad spectrum of potentially severe underlying diseases. Neonatal erythroderma represents a pediatric dermatological emergency requiring a swift diagnosis and effective, interdisciplinary management. This review summarizes both primary skin diseases and systemic illnesses that are known to elicit erythroderma in neonates and young infants.
October 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28816422/dolichol-kinase-deficiency-dolk-cdg-two-new-cases-and-expansion-of-phenotype
#13
Eric T Rush, Craig V Baker, William B Rizzo
Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing. Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28770119/first-report-on-fetal-cerebral-polyglucosan-bodies-in-mucopolysaccharidosis-type-vii
#14
Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, Nicky D'Haene
We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28690898/delayed-treatment-response-in-a-neonate-with-multisystem-langerhans-cell-histiocytosis-case-report-and-review-of-literature
#15
Amitabh Singh, Anirban Mandal, Lavleen Singh, Sataroopa Mishra, Ankita Patel
Langerhans cell histiocytosis (LCH) is a rare proliferative disorder of the Langerhans cells, which are part of the mononuclear phagocytic system. The disorder varies in terms of the extent of the disease, its natural course and patient outcomes. While skin rashes are a common presentation of neonatal LCH, other systems or organs may also be involved. Delays in the diagnosis of neonatal LCH may occur due to its non-specific presentation and a lack of awareness of the condition among doctors. We report a two-month-old male neonate who presented to the Chacha Nehru Bal Chikitsalya hospital, New Delhi, India, in 2016 after the onset of pulmonary symptoms...
May 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#16
Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Kyung-A Lee
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28349448/neonatal-onset-hereditary-coproporphyria-a-new-variant-of-hereditary-coproporphyria
#17
Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, Hirokazu Tsukahara
Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. In patients with harderoporphyria, the p.Lys404Glu mutation is found in the homozygous or compound heterozygous state with another mutation, and a marked increase in harderoporphyrin is observed...
March 28, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28046205/dietary-advice-interventions-in-pregnancy-for-preventing-gestational-diabetes-mellitus
#18
REVIEW
Joanna Tieu, Emily Shepherd, Philippa Middleton, Caroline A Crowther
BACKGROUND: Gestational diabetes mellitus (GDM) is a form of diabetes occurring during pregnancy which can result in short- and long-term adverse outcomes for women and babies. With an increasing prevalence worldwide, there is a need to assess strategies, including dietary advice interventions, that might prevent GDM. OBJECTIVES: To assess the effects of dietary advice interventions for preventing GDM and associated adverse health outcomes for women and their babies...
January 3, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28041661/constant-light-exposure-impairs-immune-tolerance-development-in-mice
#19
COMPARATIVE STUDY
Hiromi Mizutani, Risa Tamagawa-Mineoka, Yoichi Minami, Kazuhiro Yagita, Norito Katoh
BACKGROUND: An intrinsic daily physiological rhythm called circadian rhythm has been indicated to affect the immune system and its related diseases. Immune tolerance development is closely associated with the onset of immunological disorders. However, the effect of circadian rhythm in the mechanisms of immune tolerance development has not yet been fully understood. OBJECTIVE: The purpose of this study was to investigate the effects of circadian rhythm disruption on the development of immune tolerance by the perturbation of light environment, using a mouse model of neonatally induced cutaneous tolerance...
April 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27977554/neonatal-cutaneous-invasive-aspergillosis-accompanied-by-hemophagocytic-lymphohistocytosis
#20
Zhuanggui Chen, Lifen Yang, Yating Li, Li Pan, Meirong Li, Abdullah M S Al-Hatmi, Jacques F Meis, Wei Lai, Peiying Feng
We describe a 6-week-old female infant with cutaneous invasive aspergillosis accompanied with hemophagocytic lymphohistocytosis. Aspergillus flavus was isolated from biopsies of necrotic skin lesions on the forehead and scalp; morphologic identification was confirmed by molecular analysis. In vitro antifungal susceptibility testing showed that amphotericin B and triazoles had potent activity. The patient responded well to treatment with intravenous amphotericin B combined with oral posaconazole and local wound care...
April 2017: Pediatric Infectious Disease Journal
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