Works matching DE "CONGENITAL ichthyosiform erythroderma"

Results: 107

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

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

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

گزارش يك مورد ايكتيوز دلقكي با يك نتيجه مطلوب: درمان اوليه و بهبودي قابل ملاحظه

Published in:

Hayat / Ḥayāt, 2019, v. 24, n. 4, p. 335

By:

غلامرضا فعال;
فاطمه رباني;
مهدي حسيني

Publication type:

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

Kendi kendine iyileşen kollodiyon bebek: Olgu sunumu.

Published in:

Turkderm - Turkish Archives of Dermatology & Venereology, 2025, v. 59, n. 2, p. 74, doi. 10.4274/turkderm.galenos.2024.23080

By:

Boyvadoğlu, Çağdaş;
Tan, Fatih;
İnaloz, Hüseyin Serhat

Publication type:

Article

Congenital ichthyosis (icthyosis lamellaris non bullosa) - therapy.

Published in:

2021

By:

Jovandaric, Miljana Z.;
Milenkovic, Svetlana J.

Publication type:

Case Study

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

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

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

Congenital Ichthyosis in 14 Great Dane Puppies With a New Presentation.

Published in:

Veterinary Pathology, 2016, v. 53, n. 3, p. 614, doi. 10.1177/0300985815595516

By:

Hoffmann, A.;
Metzger, J.;
Wöhlke, A.;
Peters, M.;
Junginger, J.;
Mischke, R.;
Distl, O.;
Hewicker-Trautwein, M.

Publication type:

Article

What is your diagnosis?

Published in:

Journal of the Turkish-German Gynecological Association, 2018, v. 19, n. 1, p. 53, doi. 10.4274/jtgga.2017.0117

By:

Dadhwal, Vatsla;
Chawla, Latika;
Sharma, Aparna K.;
Deka, Dipika

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

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

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

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

Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature.

Published in:

Children, 2022, v. 9, n. 6, p. 893, doi. 10.3390/children9060893

By:

Tsivilika, Maria;
Kavvadas, Dimitrios;
Karachrysafi, Sofia;
Sioga, Antonia;
Papamitsou, Theodora

Publication type:

Article

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

Ichthyosis fetalis in a cross-bred lamb.

Published in:

Veterinary Dermatology, 2017, v. 28, n. 5, p. 516, doi. 10.1111/vde.12459

By:

Câmara, Antonio Carlos Lopes;
Borges, Pedro Augusto Cordeiro;
Paiva, Silvano Alves;
Pierezan, Felipe;
Soto‐Blanco, Benito

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

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

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

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

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

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

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

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

Secukinumab Therapy for Netherton Syndrome.

Published in:

2020

By:

Luchsinger, Isabelle;
Knöpfel, Nicole;
Theiler, Martin;
Bonnet des Claustres, Mathilde;
Barbieux, Claire;
Schwieger-Briel, Agnes;
Brunner, Corinne;
Donghi, Davide;
Buettcher, Michael;
Meier-Schiesser, Barbara;
Hovnanian, Alain;
Weibel, Lisa

Publication type:

journal article

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Published in:

2017

By:

Marukian, Nareh V.;
Rong-Hua Hu;
Craiglow, Brittany G.;
Milstone, Leonard M.;
Jing Zhou;
Theos, Amy;
Kaymakcalan, Hande;
Akkaya, Deniz A.;
Uitto, Jouni J.;
Vahidnezhad, Hassan;
Youssefian, Leila;
Bayliss, Susan J.;
Paller, Amy S.;
Boyden, Lynn M.;
Choate, Keith A.;
Hu, Rong-Hua;
Zhou, Jing

Publication type:

journal article

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.

Published in:

2016

By:

Hannula-Jouppi, Katariina;
Laasanen, Satu-Leena;
Ilander, Mette;
Furio, Laetitia;
Tuomiranta, Mirja;
Marttila, Riitta;
Jeskanen, Leila;
Háyry, Valtteri;
Kanerva, Mervi;
Kivirikko, Sirpa;
Tuomi, Marja-Leena;
Heikkilá, Hannele;
Mustjoki, Satu;
Hovnanian, Alain;
Ranki, Annamari;
Häyry, Valtteri;
Heikkilä, Hannele

Publication type:

journal article

CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.

Published in:

2018

By:

Yu, X.;
Zhang, J.;
Gu, Y.;
Deng, D.;
Wu, Z.;
Bao, L.;
Li, M.;
Yao, Z.

Publication type:

Case Study

Novel <italic>PNPLA1</italic> mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2018, v. 32, n. 3, p. e110, doi. 10.1111/jdv.14618

By:

Diociaiuti, A.;
Pisaneschi, E.;
Zambruno, G.;
Angioni, A.;
Novelli, A.;
Boldrini, R.;
El Hachem, M.

Publication type:

Article