Works matching DE "CONGENITAL ichthyosiform erythroderma"

Results: 106

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

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

Comèl–Netherton’s syndrome in siblings.

Published in:

2016

By:

Shanmukhappa, Asha Gowrappala;
Kharge, Priyadarshini;
Shivaram, Bhumika;
Budamakuntala, Leelavathy

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

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

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

A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene.

Published in:

Dermatology Online Journal, 2023, v. 29, n. 1, p. 1, doi. 10.5070/d329160214

By:

Amoedo, P.;
Cerejeira, A.;
Pacheco, J.;
Cruz, M. J.;
Mota, A.

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

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

Image Gallery: Rapidly spontaneous onset of erythroderma in a neonate.

Published in:

2018

By:

Zhang, G.;
Chen, J.;
Yan Liu, X.

Publication type:

Case Study

Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.

Published in:

British Journal of Dermatology, 2017, v. 177, n. 5, p. e191, doi. 10.1111/bjd.15535

By:

Karim, N.;
Murtaza, G.;
Naeem, M.

Publication type:

Article

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.

Published in:

British Journal of Dermatology, 2017, v. 177, n. 2, p. 342, doi. 10.1111/bjd.15689

By:

Uitto, J.;
Youssefian, L.;
Vahidnezhad, H.

Publication type:

Article

Ichthyoses: new insights unravel defects in skin barrier function resulting in diverse clinical and morphological phenotypes.

Published in:

British Journal of Dermatology, 2017, v. 176, n. 4, p. 863, doi. 10.1111/bjd.15211

By:

Hausser, I.

Publication type:

Article

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.

Published in:

British Journal of Dermatology, 2017, v. 176, n. 4, p. 1068, doi. 10.1111/bjd.14860

By:

Gruber, R.;
Rainer, G.;
Weiss, A.;
Udvardi, A.;
Thiele, H.;
Eckl, K.M.;
Schupart, R.;
Nürnberg, P.;
Zschocke, J.;
Schmuth, M.;
Volc ‐ Platzer, B.;
Hennies, H.C.

Publication type:

Article

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Published in:

International Journal of Dermatology, 2017, v. 56, n. 5, p. 514, doi. 10.1111/ijd.13568

By:

Bastaki, Fatma;
Mohamed, Madiha;
Nair, Pratibha;
Saif, Fatima;
Mustafa, Ethar M.;
Bizzari, Sami;
Al‐Ali, Mahmoud T.;
Hamzeh, Abdul Rezzak

Publication type:

Article

Is it safe to use N-acetylcysteine in the treatment of bilateral ectropion on collodion baby?

Published in:

International Journal of Dermatology, 2017, v. 56, n. 4, p. e71, doi. 10.1111/ijd.13456

By:

Pérez‐Lopez, Israel;
Martinez‐López, Antonio;
Blasco‐Morente, Gonzalo;
Ruiz‐Villaverde, Ricardo;
Tercedor‐Sánchez, Jesús

Publication type:

Article

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 6, p. 673, doi. 10.1111/ijd.13279

By:

Wakil, Salma M.;
Binamer, Yousef;
Al‐Dossari, Haya;
Al‐Humaidy, Rawan;
Thuraya, Rula Al;
Khalifa, Ola;
Finsterer, Josef;
Meyer, Brian F.;
Al Owain, Mohammed

Publication type:

Article

Epidermolytic Hyperkeratosis: A Challenging Pathology for Clinical Correlation.

Published in:

Balkan Medical Journal, 2019, v. 36, n. 5, p. 294, doi. 10.4274/balkanmedj.galenos.2019.2019.1.127

By:

El Hanbuli, Hala M.;
Elmahdi, Mohamed H.;
Salem, Marwa A.

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

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

Ichthyoses: Case series.

Published in:

2018

By:

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

Publication type:

Case Study

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

From Phenotype to Genotype: A Collodion Baby Case Linked to CERS3 Mutation.

Published in:

Journal of Neonatology, 2025, v. 39, n. 2, p. 196, doi. 10.1177/09732179241280843

By:

Amaresh, Puneeth;
Teotia, Shubham;
Garg, Ajoy Kumar;
Kondaparthy, Nandhitha

Publication type:

Article

Deletion in Exon-20 of ABCA12 Gene Causing Harlequin Ichthyosis.

Published in:

Journal of Neonatology, 2023, v. 37, n. 1, p. 83, doi. 10.1177/09732179211072206

By:

Ankur, Kumar;
Prasad, Aparna;
Bhardwaj, Ramji;
Rahmani, Manazir Hasan

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

Desmoglein-1 Deficiency Mimicking Omenn Syndrome.

Published in:

2024

By:

Comert, Meltem;
Guler, Tugba;
Ceylan, Ayca;
Celik, İlknur Kulhas;
Karabagli, Pinar;
Cora, Tulin;
Artac, Hasibe

Publication type:

Case Study

Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis -- A Retrospective Chart Review of 107 Patients.

Published in:

Indian Journal of Dermatology, 2024, v. 69, n. 2, p. 113, doi. 10.4103/ijd.ijd_412_23

By:

Mahajan, Rahul;
Bakshi, Shirin;
Chatterjee, Debajyoti;
De, Dipankar;
Saikia, Uma N.;
Handa, Sanjeev

Publication type:

Article

A de novo, novel frameshift deletion in Conradi-Hünermann-Happle syndrome with ten-year follow-up from birth.

Published in:

2022

By:

Peng, Jui-Hui;
Chen, Hui- Chun;
Chao, Sheau- Chiou

Publication type:

Case Study

Could "islets of sparing" be a clue for neutral lipid storage disease with ichthyosis in patients with congenital ichthyosiform erythroderma?

Published in:

Indian Journal of Dermatology, 2022, v. 67, n. 5, p. 579, doi. 10.4103/ijd.ijd_1154_20

By:

Demir, Filiz;
Cayhan, Baran;
Karaoglan, Cagla;
Turkoglu, Zafer;
Buyukbabani, Nesimi;
Ayer, Mesut;
Duz, Bugrahan;
Uyanık, Bulent

Publication type:

Article

Type 4 woolly hair-palmoplantar keratoderma syndrome: A rare entity.

Published in:

2021

By:

Hassanandani, Trashita;
Agarwal, Akash;
Kar, Bikash

Publication type:

Letter to the Editor

Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India.

Published in:

Indian Journal of Dermatology, 2017, v. 62, n. 6, p. 498, doi. 10.4103/ijd.IJD_411_17

By:

Ghosh, Arghyaprasun;
Ahar, Rahul;
Chatterjee, Gobinda;
Sharma, Neha;
Jadhav, Shruti Alhad

Publication type:

Article

Novel ALOX 12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis.

Published in:

Indian Journal of Dermatology, 2016, v. 61, n. 1, p. 116, doi. 10.4103/0019-5154.174134

By:

Salian, Smrithi;
Gupta, Ashish;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI.

Published in:

Indian Journal of Radiology & Imaging, 2019, v. 29, n. 4, p. 448, doi. 10.4103/ijri.IJRI_105_19

By:

Kale, Kiran;
Ghonge, Nitin;
Kaul, Anita

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

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

CYP4F22 Gene Mutations in Patients with Autosomal Recessive Congenital Ichthyosis: Identification of Two Novel Mutations.

Published in:

Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2020, v. 14, n. 4, p. 90, doi. 10.4103/tjd.tjd_91_20

By:

Ateş, Esra Arslan;
Onay, Hüseyin;
Ertam, Ilgen;
Ataman, Esra;
Hazan, Filiz;
Durmaz, Asude;
Dereli, Tugrul;
Özkinay, Ferda

Publication type:

Article

Dermoscopic Features of Cutaneous Leishmaniasis Lesions.

Published in:

Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2019, v. 13, n. 3, p. 103, doi. 10.4103/TJD.TJD_9_19

By:

Eroglu, Naime;
Aksoy, Mustafa

Publication type:

Article

Histopathological Findings in Patients with Lipoid Proteinosis.

Published in:

Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2019, v. 13, n. 3, p. 99, doi. 10.4103/TJD.TJD_8_19

By:

Güldür, Muhammet Emin;
Aksoy, Mustafa;
Yeşilova, Yavuz;
Ozturk, Murat

Publication type:

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

High Levels of Anxiety, Depression, Risk of Suicide, and Implications for Treatment in Patients with Lamellar Ichthyosis.

Published in:

Healthcare (2227-9032), 2023, v. 11, n. 14, p. 2071, doi. 10.3390/healthcare11142071

By:

Cortés, Hernán;
Cariño-Calvo, Lizbeth;
Reyes-Hernández, Octavio D.;
Rojas-Márquez, Martín;
Magaña, Jonathan J.;
Vizcaino-Dorado, Pablo A.;
Villegas-Vazquez, Edgar Y.;
Quintas-Granados, Laura Itzel;
Jiménez-Islas, Elizabeth;
Cortés-Mollinedo, Valeria A.;
Leyva-Gómez, Gerardo;
González-Del Carmen, Manuel

Publication type:

Article

Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.

Published in:

2022

By:

Sun, Qisi;
Asch, Sarah;
Bayart, Cheryl;
Bayliss, Susan J.;
Benjamin, Latanya;
Bruckner, Anna;
DiGiovanna, John J.;
Fleckman, Philip;
Funk, Tracy;
Lucky, Anne;
Nelson, Caroline A.;
Newell, Brandon;
Polcari, Ingrid;
Teng, Joyce;
Williams, Mary L.;
Gan, Geliang;
Deng, Yanhong;
Paller, Amy S.;
Choate, Keith A.

Publication type:

journal article

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Published in:

2022

By:

Sun, Qisi;
Burgren, Nareh M.;
Cheraghlou, Shayan;
Paller, Amy S.;
Larralde, Margarita;
Bercovitch, Lionel;
Levinsohn, Jonathan;
Ren, Ivy;
Hu, Rong Hua;
Zhou, Jing;
Zaki, Theodore;
Fan, Ryan;
Tian, Charlie;
Saraceni, Corey;
Nelson-Williams, Carol J.;
Loring, Erin;
Craiglow, Brittany G.;
Milstone, Leonard M.;
Lifton, Richard P.;
Boyden, Lynn M.

Publication type:

journal article