Works matching DE "CONGENITAL ichthyosiform erythroderma"

Results: 106

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 2, p. 187, doi. 10.1111/ced.13324

By:

Vodo, D.;
Sarig, O.;
Peled, A.;
Samuelov, L.;
Malchin, N.;
Grafi‐Cohen, M.;
Sprecher, E.

Publication type:

Article

A rare association between constrictive pericarditis and congenital ichthyosis.

Published in:

Clinical & Experimental Dermatology, 2016, v. 41, n. 8, p. 936, doi. 10.1111/ced.12949

By:

Pujara, K.;
Shpadaruk, V.;
Firmin, R. K.;
Da Forno, P.;
Graham‐Brown, R.;
Chin, D.

Publication type:

Article

Causes of secondary non-alcoholic fatty liver disease in non-obese children below 10 years.

Published in:

2020

By:

Mogahed, Engy A.;
Sayed, Al-Hussien A.;
Khalifa, Sara E.;
El-Hennawy, Ahmed;
El-Raziky, Mona S.

Publication type:

journal article

Kollodion bebek olgu serisi: Retinoik asit yüz güldürüyor.

Published in:

Türk Pediatri Arşivi, 2018, v. 53, n. 1, p. 51, doi. 10.5152/TurkPediatriArs.2018.3704

By:

Özyurt, Banu Mutlu;
Onay, Özge Sürmeli;
Ersoy, Özlem

Publication type:

Article

Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family.

Published in:

2014

By:

Tekin, Mehmet;
Konca, Çapan;
Kahramaner, Zelal;
Erdemir, Aydın

Publication type:

Case Study

Pseudoainhum and autoamputation associated with lamellar ichthyosis.

Published in:

2017

By:

Behera, Biswanath;
Gochhait, Debasis;
Thappa, Devinder Mohan

Publication type:

journal article

Superficial epidermolytic ichthyosis.

Published in:

2015

By:

Das, Anirban;
Das, Anupam;
Bhattacharya, Sabari;
Ghosh, Anupama;
Shome, Kaushik

Publication type:

Case Study

Effect of tazarotene on ichthyosiform erythroderma of Tay's syndrome.

Published in:

2007

By:

Varghese, Vanita Sarah;
Rai, Reena;
Sundaram, Shanmuga V.;
Prabhu, Karthick S.;
Srinivas, C. R.

Publication type:

Case Study

Unilateral nevoid hyperkeratosis of the nipple: a report of two cases.

Published in:

2006

By:

Shastry, Veeranna;
Betkerur, Jayadev;
Kushalappa, P. A.

Publication type:

journal article

Lichen Planus Pigmentosus and Frontal Fibrosing Alopecia Mimicking Discoid Lupus Erythematosus.

Published in:

2019

By:

Kushner, Carolyn J.;
Concha, Josef Symon S.;
Pearson, David R.;
Werth, Victoria P.

Publication type:

Case Study

A Rare Case Report of a Collodion Baby with Severe Hypernatremia.

Published in:

2017

By:

Farhat, Ahmad Shah;
Noorizadeh, Shadi;
Mohamadzadeh, Ashraf;
Saeedi, Reza

Publication type:

Case Study

Ichthyoses: Case series.

Published in:

2018

By:

Dosemane Shrinarayana, Gopal Anoop;
Samayam, Aneesh;
Dharman, Bijina Kolukulangara

Publication type:

Case Study

A Case with Netherton Syndrome-Classical Findings in Late Diagnosis.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2022, v. 20, n. 1, p. 64, doi. 10.21911/aai.635

By:

VEZIR, Emine;
NURAL KIRCI, Ezgi Günce;
ÖZCAN, Ayşegül

Publication type:

Article

Netherton syndrome; neuropsychological and psychosocial functioning of child and adult patients and their parents.

Published in:

Journal of Health Psychology, 2020, v. 25, n. 13/14, p. 2296, doi. 10.1177/1359105318790052

By:

Versteegh, Josette JWM;
Dulfer, Karolijn;
Stuvel, Kira;
Pasmans, Suzanne GMA;
Utens, Elisabeth MWJ

Publication type:

Article

Health systems implications of rare genetic conditions in low- and middle-income countries: a case study approach.

Published in:

Critical Public Health, 2018, v. 28, n. 2, p. 248, doi. 10.1080/09581596.2017.1344772

By:

Allotey, Pascale A.;
Allotey-Reidpath, Caitlin D.;
Reidpath, Daniel D.

Publication type:

Article

Harlequin Ichthyosis: Case Series.

Published in:

Gynecology Obstetrics & Reproductive Medicine (MN GORM), 2024, v. 30, n. 1, p. 19, doi. 10.21613/GORM.2023.1456

By:

EZVECI, Huriye;
DOGRU, Sukran;
AKKUS, Fatih;
GEZGINC, Kazım

Publication type:

Article

Netherton Syndrome: A Case Report With Literature Review.

Published in:

Journal of Pediatrics Review, 2019, v. 7, n. 4, p. 223, doi. 10.32598/jpr.7.4.223

By:

Salari, Fereshteh;
Adam, Leila Bani;
Arshi, Saba;
Bemanian, Mohammad Hassan;
Fallahpour, Morteza;
Nabavi, Mohammad

Publication type:

Article

Plastic baby with rubber doll-like skin.

Published in:

Indian Journal of Health & Wellbeing, 2016, v. 7, n. 2, p. 263

By:

Devi, Akoijam Mamata;
Devi, Chinna

Publication type:

Article

Ashy Dermatosis and Lichen Planus Pigmentosus: The Histopathological Differences.

Published in:

BioMed Research International, 2019, p. 1, doi. 10.1155/2019/5829185

By:

Rutnin, Suthinee;
Udompanich, Siriorn;
Pratumchart, Nathathai;
Harnchoowong, Sarawin;
Vachiramon, Vasanop

Publication type:

Article

Neonatal Endocrinologic Problems in Collodion Babies.

Published in:

Pediatric Dermatology, 2017, v. 34, n. 3, p. 290, doi. 10.1111/pde.13120

By:

Ozdemir, Ahmet;
Korkut, Sabriye;
Kurtoglu, Selim;
Hatipoglu, Nihal;
Gunes, Tamer;
Ozturk, Mehmet Adnan

Publication type:

Article

Invasive Melanoma in a Patient with Congenital Ichthyosiform Erythroderma.

Published in:

Pediatric Dermatology, 2017, v. 34, n. 1, p. e35, doi. 10.1111/pde.13012

By:

Jaju, Prajakta;
Novoa, Roberto A.;
Swetter, Susan M.;
Sarin, Kavita Y.

Publication type:

Article

Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.

Published in:

Pediatric Dermatology, 2016, v. 33, n. 2, p. e48, doi. 10.1111/pde.12740

By:

Noguera‐Morel, Lucero;
Feito‐Rodríguez, Marta;
Maldonado‐Cid, Paola;
García‐Miñáur, Sixto;
Kamsteeg, Erik‐Jan;
González‐Sarmiento, Rogelio;
Lucas‐Laguna, Raúl;
Hernández‐Martín, Angela;
Torrelo, Antonio

Publication type:

Article

Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings.

Published in:

Pediatric Dermatology, 2016, v. 33, n. 1, p. e6, doi. 10.1111/pde.12728

By:

Vyas, Nikki S.;
Kannan, Swati;
N. Jahnke, Marla;
Hu, Rong‐Hua;
Choate, Keith A.;
Shwayder, Tor A.

Publication type:

Article

CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.

Published in:

Pediatric Dermatology, 2015, v. 32, n. 6, p. e277, doi. 10.1111/pde.12701

By:

Mi, Xiang‐bin;
Luo, Miao‐xuan;
Guo, Lin‐lang;
Zhang, Tang‐de;
Qiu, Xian‐wen

Publication type:

Article

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency.

Published in:

2018

By:

Monies, D.;
Anabrees, J.;
Ibrahim, N.;
Elbardisy, H.;
Abouelhoda, M.;
Meyer, B. F.;
Alkuraya, F. S.

Publication type:

Letter to the Editor

Genetics Corner: Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair.

Published in:

2021

By:

Clark, Robin Dawn;
Ramaanthan, Subhadra

Publication type:

Case Study

CONTINUING EDUCATION HOME STUDY COURSE.

Published in:: Neonatal Network, 2016, v. 35, n. 1, p. 52, doi. 10.1891/0730-0832.35.1.52
Publication type:: Article

Management of Epidermolytic Ichthyosis in the Newborn.

Published in:

Neonatal Network, 2016, v. 35, n. 1, p. 19, doi. 10.1891/0730-0832.35.1.19

By:

Avril, Mondell;
Riley, Cheryl

Publication type:

Article

Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing.

Published in:

2010

By:

Bonnart, Chrystelle;
Deraison, Céline;
Lacroix, Matthieu;
Uchida, Yoshikazu;
Besson, Céline;
Aurélie Robin;
Briot, Anaïs;
Gonthier, Marie;
Lamant, Laurence;
Dubus, Pierre;
Monsarrat, Bernard;
Hovnanian, Alain;
Deraison, Céline;
Besson, Céline;
Robin, Aurélie;
Briot, Anaïs

Publication type:

journal article

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

Published in:

2005

By:

Akiyama, Masashi;
Sugiyama-Nakagiri, Yoriko;
Sakai, Kaori;
McMillan, James R.;
Goto, Maki;
Arita, Ken;
Tsuji-Abe, Yukiko;
Tabata, Nobuko;
Matsuoka, Kentaro;
Sasaki, Rikako;
Sawamura, Daisuke;
Shimizu, Hiroshi

Publication type:

journal article

Harlequin ichthyosis unmasked: a defect of lipid transport.

Published in:

2005

By:

Hovnanian, Alain

Publication type:

journal article

Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease.

Published in:

2008

By:

Gaeta, Michele;
Minutoli, Fabio;
Toscano, Antonio;
Celona, Antonio;
Musumeci, Olimpia;
Racchiusa, Sergio;
Mazziotti, Silvio

Publication type:

journal article

Jordans' anomaly in Chanarin-Dorfman syndrome.

Published in:

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2025, v. 6, n. 1, p. 118, doi. 10.1515/almed-2024-0159

By:

Sánchez-Cortés, Jorge;
Gabaldó-Barrios, Xavier

Publication type:

Article

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 54, doi. 10.4274/jpr.63825

By:

Bulut, Fatma Derya;
Kör, Deniz;
Yılmaz, Berna Şeker;
Yılmaz, Mustafa;
Altıntaş, Derya Ufuk;
Ceylaner, Serdar;
Kılavuz, Sebile;
Mungan, Neslihan Önenli

Publication type:

Article

Neonatal Harlequin color change associated with Prostaglandin E<sub>1</sub> administration.

Published in:

Pediatrics International, 2021, v. 63, n. 5, p. 610, doi. 10.1111/ped.14581

By:

Tsuboi, Kaoru;
Tsuboi, Norihiko;
Nosaka, Nobuyuki;
Nishimura, Nao;
Nakagawa, Satoshi

Publication type:

Article

Airborne transmission from a neonate with Netherton syndrome during an outbreak of MRSA.

Published in:

Pediatrics International, 2016, v. 58, n. 6, p. 518, doi. 10.1111/ped.12841

By:

Hara, Shinya;
Yamamoto, Hikaru;
Kawabata, Atsushi;
Azuma, Teiji;
Ishii, Sachie;
Okumura, Naoya;
Ito, Yoshinori

Publication type:

Article

Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case.

Published in:

Case Reports in Perinatal Medicine, 2019, v. 8, n. 2, p. N.PAG, doi. 10.1515/crpm-2018-0048

By:

Garofalo, Giulia;
Cassart, Marie;
Désir, Julie;
Thomas, Dominique

Publication type:

Article

High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt.

Published in:

Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2018, v. 35, n. 2, p. 161, doi. 10.5114/ada.2018.75238

By:

El-Sayed, Nermine;
Seifeldin, Neveen S.;
Gobrial, Christine K.T.

Publication type:

Article

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170708

By:

Casal, Margret L.;
Wang, Ping;
Mauldin, Elizabeth A.;
Lin, Gloria;
Henthorn, Paula S.

Publication type:

Article

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Published in:

2017

By:

Pennisi, Elena Maria;
Arca, Marcello;
Bertini, Enrico;
Bruno, Claudio;
Cassandrini, Denise;
D'amico, Adele;
Garibaldi, Matteo;
Gragnani, Francesca;
Maggi, Lorenzo;
Massa, Roberto;
Missaglia, Sara;
Morandi, Lucia;
Musumeci, Olimpia;
Pegoraro, Elena;
Rastelli, Emanuele;
Santorelli, Filippo Maria;
Tasca, Elisabetta;
Tavian, Daniela;
Toscano, Antonio;
Angelini, Corrado

Publication type:

journal article

The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study.

Published in:

2022

By:

Ryu, Jeong Yeop;
Park, Tae Hyun;
Cho, Byung Chae;
Choi, Kang Young

Publication type:

journal article

FINDING THE POSITIVES OF BULLOUS ICHTHYOSIFORM ERYTHRODERMA.

Published in:

Dermatological Nursing, 2019, v. 18, n. 2, p. 46

By:

Green, David

Publication type:

Article

A PARENT'S PERSPECTIVE OF ICHTHYOSIS.

Published in:

Dermatological Nursing, 2018, v. 17, n. 3, p. 48

By:

Cook, James

Publication type:

Article

Ductal cyst of lacrimal gland in patient with congenital ichthyosiform erythroderma.

Published in:

2017

By:

de Almeida, Adriana Ribeiro;
Damous Feijó, Eduardo

Publication type:

Case Study

Rare health conditions 8: Smith-Magenis syndrome, anorchia and Harlequins ichthyosis.

Published in:

British Journal of Healthcare Assistants, 2018, v. 12, n. 1, p. 10, doi. 10.12968/bjha.2018.12.1.10

By:

Barber, Chris

Publication type:

Article

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01336-0

By:

Serra, Gregorio;
Memo, Luigi;
Cavicchioli, Paola;
Cutrone, Mario;
Giuffrè, Mario;
La Torre, Maria Laura;
Schierz, Ingrid Anne Mandy;
Corsello, Giovanni

Publication type:

Article

3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.

Published in:

2020

By:

Enjalbert, Florence;
Dewan, Priya;
Caley, Matthew P.;
Jones, Eleri M.;
Morse, Mary A.;
Kelsell, David P.;
Enright, Anton J.;
O’Toole, Edel A.;
O'Toole, Edel A

Publication type:

journal article

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Published in:

2017

By:

Lovric, Svjetlana;
Goncalves, Sara;
Heon Yung Gee;
Oskouian, Babak;
Srinivas, Honnappa;
Won-Il Choi;
Shril, Shirlee;
Ashraf, Shazia;
Weizhen Tan;
Rao, Jia;
Airik, Merlin;
Schapiro, David;
Braun, Daniela A.;
Sadowski, Carolin E.;
Widmeier, Eugen;
Jobst-Schwan, Tilman;
Schmidt, Johanna Magdalena;
Girik, Vladimir;
Capitani, Guido;
Suh, Jung H.

Publication type:

journal article

Recurrent Harlequin Ichthyosis in a Family: A Case Report.

Published in:

Apollo Medicine, 2023, v. 20, p. S83, doi. 10.4103/am.am_96_23

By:

Somasundara, Meghana;
Somasundara, Srinivasa

Publication type:

Article

Case of the month: a 10-year-old boy with Down syndrome and ichthyosiform changes.

Published in:

1997

By:

Tandeter, H;
Lazarov, A;
Phillip, M

Publication type:

journal article