Works matching Ichthyosis

Results: 3068

Harlequin ichthyosis.

Published in:

Clinical Dermatology / Dermatologia Kliniczna, 2009, v. 11, n. 3, p. 147

By:

Jacyk, Witold Kamil;
Ramkisson, Ishaan

Publication type:

Article

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

Published in:

Revista Paulista de Pediatria, 2023, v. 41, p. 1, doi. 10.1590/1984-0462/2023/41/2022057

By:

Patricia Migliavacca, Michele;
Ambrosio Fock, Rodrigo;
Almeida, Nadia;
Cavalcanti, Thereza;
Villela, Darine;
Alvarez Perez, Ana Beatriz;
Valle, David;
Wohler, Elizabeth;
Lygia de Macena Sobreira, Nara;
Raskin, Salmo

Publication type:

Article

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2506, doi. 10.3390/ijms23052506

By:

Chulpanova, Daria S.;
Shaimardanova, Alisa A.;
Ponomarev, Aleksei S.;
Elsheikh, Somaia;
Rizvanov, Albert A.;
Solovyeva, Valeriya V.

Publication type:

Article

基于“ 燥湿同形同病” 论治鱼鳞病.

Published in:

Journal of Beijing University of Traditional Chinese Medicine, 2023, n. 1, p. 110, doi. 10.3969/j.issn.1006-2157.2023.01.018

By:

宋玮;
张钟艺;
凌桂华;
饶响书;
卓兴卫;
肖敏;
陈明岭;
沈涛

Publication type:

Article

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.608

By:

Montalván‐Suárez, Martha;
Esperón‐Moldes, Uxia Saraiva;
Rodríguez‐Pazos, Laura;
Ordóñez‐Ugalde, Andrés;
Moscoso, Fernanda;
Ugalde‐Noritz, Nora;
Santomé, Luis;
Fachal, Laura;
Tettamanti‐Miranda, Daniel;
Ruiz, Juan Carlos;
Ginarte, Manuel;
Vega, Ana

Publication type:

Article

Updated mutational spectrum and genotype–phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.

Published in:

2024

By:

Noda, Tatsuhiro;
Takeichi, Takuya;
Tanahashi, Kana;
Ogawa, Yasushi;
Takeuchi, So;
Yoshikawa, Takenori;
Toriyama, Erika;
Ashida, Miwa;
Imakado, Sumihisa;
Tsuchihashi, Hitoshi;
Okamoto, Takashi;
Okuno, Yusuke;
Ogi, Tomoo;
Sugiura, Kazumitsu;
Kubo, Akiharu;
Muro, Yoshinao;
Suga, Yasushi;
Ishida‐Yamamoto, Akemi;
Akiyama, Masashi

Publication type:

Case Study

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population.

Published in:

Experimental Dermatology, 2021, v. 30, n. 9, p. 1290, doi. 10.1111/exd.14345

By:

Mohamad, Janan;
Samuelov, Liat;
Malchin, Natalia;
Rabinowitz, Tom;
Assaf, Sari;
Malki, Liron;
Malovitski, Kiril;
Israeli, Shirli;
Grafi‐Cohen, Meital;
Bitterman‐Deutsch, Ora;
Molho‐Pessach, Vered;
Cohen‐Barak, Eran;
Bach, Gideon;
Garty, Ben Zion;
Bergman, Reuven;
Harel, Avikam;
Nanda, Arti;
Lestringant, Giles G.;
McGrath, John;
Shalev, Stavit

Publication type:

Article

Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs.

Published in:

Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1274248

By:

Peña-Corona, Sheila I.;
Gutiérrez-Ruiz, Stephany Celeste;
de los Dolores Campos Echeverria, Maria;
Cortés, Hernán;
Carmen, Manuel González-Del;
Leyva-Gómez, Gerardo

Publication type:

Article

Clinical Spectrum of Congenital Ichthyosis in Pediatric Age Group from a Tertiary Care Center in India.

Published in:

Indian Journal of Paediatric Dermatology, 2024, v. 25, n. 2, p. 99, doi. 10.4103/ijpd.ijpd_61_23

By:

Mendiratta, Vibhu;
Verma, Damini;
Himadri;
Thekho, Apaopa Jemima;
Bindal, Ayushman

Publication type:

Article

The Enigma of a Keratitis-Ichthyosis-Deafness with Silence, Scaling, and Related Syndrome.

Published in:

Indian Journal of Paediatric Dermatology, 2023, v. 24, n. 4, p. 291, doi. 10.4103/ijpd.ijpd_13_23

By:

Kharodawala, Mariya;
Pradhan, Shekhar N.;
Gosavi, Anil;
Tolat, Sunil

Publication type:

Article

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Published in:

2017

By:

Youssefian, Leila;
Touati, Andrew;
Saeidian, Amir Hossein;
Zargari, Omid;
Zeinali, Sirous;
Vahidnezhad, Hassan;
Uitto, Jouni

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

Evaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experience.

Published in:

Journal of Clinical Practice & Research, 2023, v. 45, n. 4, p. 335, doi. 10.14744/cpr.2023.87597

By:

Deveci, Mehmet Fatih;
Ateş, Kübra;
Alagöz, Meral;
Tekedereli, İbrahim;
Gökce, İsmail Kürşad;
Aslan, Mehmet;
Özdemir, Ramazan

Publication type:

Article

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Published in:

Biomedicines, 2024, v. 12, n. 5, p. 1112, doi. 10.3390/biomedicines12051112

By:

Fioretti, Tiziana;
Martora, Fabrizio;
De Maggio, Ilaria;
Ambrosio, Adelaide;
Piscopo, Carmelo;
Vallone, Sabrina;
Amato, Felice;
Passaro, Diego;
Acquaviva, Fabio;
Gaudiello, Francesca;
Di Girolamo, Daniela;
Maiolo, Valeria;
Zarrilli, Federica;
Esposito, Speranza;
Vitiello, Giuseppina;
Auricchio, Luigi;
Sammarco, Elena;
Brasi, Daniele De;
Petillo, Roberta;
Gambale, Antonella

Publication type:

Article

Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study.

Published in:

Dermatology & Therapy, 2023, v. 13, n. 6, p. 1255, doi. 10.1007/s13555-023-00923-1

By:

Marathe, Kalyani;
Teng, Joyce M. C.;
Guenthner, Scott;
Bunick, Christopher G.;
Kempers, Steven;
Eads, Kimmie;
Castelo-Soccio, Leslie;
Mendelsohn, Alan M.;
Raiz, Jessica;
Murrell, Dédée F.

Publication type:

Article

An update on molecular aspects of the non-syndromic ichthyoses.

Published in:

Experimental Dermatology, 2008, v. 17, n. 5, p. 373, doi. 10.1111/j.1600-0625.2007.00691.x

By:

Akiyama, Masashi;
Shimizu, Hiroshi

Publication type:

Article

Care of the newborn with ichthyosis.

Published in:

Dermatologic Therapy, 2013, v. 26, n. 1, p. 1, doi. 10.1111/j.1529-8019.2012.01555.x

By:

Dyer, Jonathan A.;
Spraker, Mary;
Williams, Mary

Publication type:

Article

Lamellar ichthyosis and arthrogryposis in a premature neonate.

Published in:

2015

By:

De Leonibus, Chiara;
Lembo, Claudio;
Santantonio, Alfredo;
Fioretti, Tiziana;
Rojo, Silvana;
Salvatore, Francesco;
De Vivo, Massimiliano;
Esposito, Gabriella;
Giliberti, Paolo

Publication type:

Case Study

Harlequin Ichthyosis the Most Severe Form of the Congenital Ichthyosis; A Case Report Study.

Published in:

Indian Journal of Forensic Medicine & Toxicology, 2021, v. 15, n. 4, p. 1975, doi. 10.37506/ijfmt.v15i4.16991

By:

Talebi-Azar, Nasim;
Rasouli, Mayam;
Anzali, Babak Choobi;
Goli, Rasoul;
Johani, Jaizeh Karimi;
Faraji, Navid;
Hassanpour, Amireh;
Bagherzadi, Aynaz

Publication type:

Article

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00987-y

By:

Arias-Pérez, Ruben D.;
Gallego-Quintero, Salomón;
Taborda, Natalia A.;
Restrepo, Jorge E.;
Zambrano-Cruz, Renato;
Tamayo-Agudelo, William;
Bermúdez, Patricia;
Duque, Constanza;
Arroyave, Ismael;
Tejada-Moreno, Johanna A.;
Villegas-Lanau, Andrés;
Mejía-García, Alejandro;
Zapata, Wildeman;
Hernandez, Juan C.;
Cuartas-Montoya, Gina

Publication type:

Article

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother.

Published in:

2024

By:

Aubry, Rachel L;
Innes, A. Micheil;
Haber, Richard M

Publication type:

Case Study

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

Published in:

Pediatric Dermatology, 2022, v. 39, n. 3, p. 420, doi. 10.1111/pde.14944

By:

Chiramel, Minu Jose;
Mathew, Lydia;
Athirayath, Rekha;
Chapla, Aaron;
Sathishkumar, Dharshini;
Mani, Thenmozhi;
Danda, Sumita;
George, Renu

Publication type:

Article

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.

Published in:

Pediatric Dermatology, 2020, v. 37, n. 1, p. 165, doi. 10.1111/pde.14030

By:

Li, Wendy;
Oberlin, Kate E.;
Wilson, Theodore E.;
Haggstrom, Anita N.

Publication type:

Article

Quality of life in Swedish children with congenital ichthyosis.

Published in:

Dermatology Reports, 2010, v. 2, n. 1, p. 18, doi. 10.4081/dr.2010.e7

By:

Gånemo, Agneta

Publication type:

Article

Ichthyosis Follicularis with Alopecia and Photophobia Syndrome with Coexisting Palmoplantar Keratoderma Treated with Acitretin.

Published in:

International Journal of Trichology, 2022, v. 14, n. 6, p. 213, doi. 10.4103/ijt.ijt_9_22

By:

Rajesh, Supriya;
Loganathan, Eswari;
Shanmukhappa, Asha Gowrappala

Publication type:

Article

Inherited ichthyoses: molecular causes of the disease in Czech patients.

Published in:

2019

By:

Borská, Romana;
Pinková, Blanka;
Réblová, Kamila;
Bučková, Hana;
Kopečková, Lenka;
Němečková, Jitka;
Puchmajerová, Alena;
Malíková, Marcela;
Hermanová, Markéta;
Fajkusová, Lenka

Publication type:

Letter

Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses.

Published in:

Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0618-x

By:

El Hachem, May;
Abeni, Damiano;
Diociaiuti, Andrea;
Rotunno, Roberta;
Gesualdo, Francesco;
Zambruno, Giovanna;
Bodermer, Christine

Publication type:

Article

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis.

Published in:

2018

By:

Bubanale, Shivanand C.;
De Piedade Sequeira, Linda Maria Genoveva;
Kurbet, Bhagyajyothi B.

Publication type:

Case Study

Congenital ichthyosis in newborns. A case-series and review of the literature.

Published in:

European Journal of Pediatric Dermatology, 2020, v. 30, n. 2, p. 104

By:

E., Pontello;
N., Battajon;
F., Tormena;
M., Giovannini;
M., Buffo;
N., Mainini;
G., Visintin;
V., Favero;
S., Vendramin;
B., Galeazzo;
M., Cutrone;
P., Lago

Publication type:

Article

Rickets in a 4-year-old child with lamellar ichthyosis.

Published in:

2013

By:

Litaiem, N.;
Jones, M.;
El Khalifa, J.;
Fazaa, B.

Publication type:

Case Study

Cardiac Abnormalities in Harlequin Ichthyosis: First Case Study.

Published in:

Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research), 2018, v. 9, n. 3, p. 154, doi. 10.5530/jcdr.2018.3.34

By:

Verma, Bhupendra;
Mohan, Anand;
Singh, Amrita;
Saxena, Ashwani Kumar

Publication type:

Article

Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13962, doi. 10.3390/ijms241813962

By:

Terrinoni, Alessandro;
Sala, Gabriele;
Bruno, Ernesto;
Pitolli, Consuelo;
Minieri, Marilena;
Pieri, Massimo;
Gambacurta, Alessandra;
Campione, Elena;
Belardi, Riccardo;
Bernardini, Sergio

Publication type:

Article

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 7791, doi. 10.3390/ijms23147791

By:

Suzuki, Yuika;
Takeichi, Takuya;
Tanahashi, Kana;
Muro, Yoshinao;
Suga, Yasushi;
Ogi, Tomoo;
Akiyama, Masashi

Publication type:

Article

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7707, doi. 10.3390/ijms21207707

By:

Diociaiuti, Andrea;
Castiglia, Daniele;
Corbeddu, Marialuisa;
Rotunno, Roberta;
Rossi, Sabrina;
Pisaneschi, Elisa;
Cesario, Claudia;
Condorelli, Angelo Giuseppe;
Zambruno, Giovanna;
El Hachem, May

Publication type:

Article

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.

Published in:

Life (2075-1729), 2021, v. 11, n. 7, p. 624, doi. 10.3390/life11070624

By:

Anker, Pálma;
Kiss, Norbert;
Kocsis, István;
Czemmel, Éva;
Becker, Krisztina;
Zakariás, Sára;
Plázár, Dóra;
Farkas, Klára;
Mayer, Balázs;
Nagy, Nikoletta;
Széll, Márta;
Ács, Nándor;
Szalai, Zsuzsanna;
Medvecz, Márta

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

Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report.

Published in:

2022

By:

Moustaine, Moulay Omar;
Frarchi, Mohammed;
Haloui, Majd;
Chabbab, Fatima Zahra

Publication type:

Case Study

CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 44, doi. 10.1111/cge.14432

By:

Eskin‐Schwartz, Marina;
Dolgin, Vadim;
Didkovsky, Elena;
Aminov, Ilana;
Pikovsky, Anna;
Hadar, Noam;
Kristal, Eyal;
Ling, Galina;
Cohen, Idan;
Zilberman, Uri;
Birk, Ohad S.

Publication type:

Article

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01700-x

By:

Alakloby, Omar Mohammed;
Almuqarrab, Fatimah;
Zschocke, Johannes;
Schmuth, Mathias;
Abdulkareem, Adnan;
Alnutaifi, Kholood;
Borgio, Francis;
Gruber, Robert;
Hennies, Hans Christian

Publication type:

Article

Is X-linked Recessive Ichthyosis a High Risk for Basal Cell Carcinoma?

Published in:

Yonago Acta Medica, 2020, v. 63, n. 1, p. 92, doi. 10.33160/yam.2020.02.012

By:

Keiko Wakumoto;
Yuichi Yoshida;
Osamu Yamamoto

Publication type:

Article

Curth Macklin Ichthyosis in Blaschkoid Pattern: A Rare Case Presentation.

Published in:

2024

By:

GARG, Simran;
SHARMEEN, Ayesha;
AMIN, Syed Suhail;
HASSAN, Jowairiah

Publication type:

Case Study

Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.

Published in:

British Journal of Dermatology, 2010, v. 163, n. 1, p. 205, doi. 10.1111/j.1365-2133.2010.09794.x

By:

Nagtzaam, I. F.;
van Geel, M.;
Driessen, A.;
Steijlen, P. M.;
van Steensel, M. A. M.

Publication type:

Article

Genotype–phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

Published in:

British Journal of Dermatology, 2010, v. 162, n. 2, p. 448, doi. 10.1111/j.1365-2133.2009.09537.x

By:

Hackett, B. C.;
Fitzgerald, D.;
Watson, R. M.;
Hol, F. A.;
Irvine, A. D.

Publication type:

Article

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.

Published in:

British Journal of Dermatology, 2003, v. 149, n. 1, p. 174, doi. 10.1046/j.1365-2133.2003.05386.x

By:

Hatsell, S.J.;
Stevens, H.;
Jackson, A.P.;
Kelsell, D.P.;
Zvulunov, A.

Publication type:

Article

Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma.

Published in:

British Journal of Dermatology, 2001, v. 145, n. 3, p. 480, doi. 10.1046/j.1365-2133.2001.04401.x

By:

Virolainen, E.;
Niemi, K-M.;
Gånemo, A.;
Kere, J.;
Vahlquist, A.;
Saarialho-Kere, U.

Publication type:

Article

X-linked ichthyosis: an update.

Published in:

British Journal of Dermatology, 1999, v. 141, n. 4, p. 617, doi. 10.1046/j.1365-2133.1999.03098.x

By:

Hernández-Martín;
González-Sarmiento;
De Unamuno;
Hernández-Martín, Angela

Publication type:

Article

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

Published in:

Acta Dermato-Venereologica, 2021, v. 101, n. 6, p. 1, doi. 10.2340/00015555-3822

By:

ABENI, Damiano;
ROTUNNO, Roberta;
DIOCIAIUTI, Andrea;
GIANCRISTOFORO, Simona;
BONAMONTE, Domenico;
FILONI, Angela;
SCHEPIS, Carmelo;
SIRAGUSA, Maddalena;
NERI, Iria;
VIRDI, Annalucia;
CASTIGLIA, Daniele;
ZAMBRUNO, Giovanna;
BODEMER, Christine;
EL HACHEM, May

Publication type:

Article

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Published in:

Acta Dermato-Venereologica, 2020, v. 100, p. 177, doi. 10.2340/00015555-3431

By:

UITTO, Jouni;
YOUSSEFIAN, Leila;
SAEIDIAN, Amir Hossein;
VAHIDNEZHAD, Hassan

Publication type:

Article

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Published in:

Acta Dermato-Venereologica, 2016, v. 96, n. 7, p. 932, doi. 10.2340/00015555-2418

By:

HELLSTRÖM PIGG1, Maritta;
BYGUM, Anette;
GÅNEMO, Agneta;
VIRTANEN, Marie;
BRANDRUP, Flemming;
ZIMMER, Andreas D.;
HOTZ, Alrun;
VAHLQUIST, Anders;
FISCHER, Judith

Publication type:

Article

Hepoxilin A<sub>3</sub> (HXA<sub>3</sub>) synthase deficiency is causative of a novel ichthyosis form

Published in:

FEBS Letters, 2008, v. 582, n. 2, p. 279, doi. 10.1016/j.febslet.2007.12.017

By:

Nigam, Santosh;
Zafiriou, Maria-Patapia;
Deva, Rupal;
Kerstin, Nadja;
Geilen, Christoph;
Ciccoli, Roberto;
Sczepanski, Marco;
Lohse, Maren

Publication type:

Article