Works matching DE "ICHTHYOSIS"

Results: 1714

Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Persistent Hypercreatinekinasemia: Value of the Peripheral Blood Smear.

Published in:

Journal of Pediatric Research, 2025, v. 12, n. 2, p. 1, doi. 10.4274/jpr.galenos.2025.85453

By:

Taş, Burcu Tufan;
Doğru, Ömer

Publication type:

Article

Sjögren‐Larsson syndrome: Anesthetic considerations and practical recommendations.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 12, p. 1390, doi. 10.1111/pan.14034

By:

Franzen, Marcellene H.;
LeRiger, Michelle M.;
Pellegrino, Kaitlyn P.;
Kugler, Jane A.;
Rizzo, William B.;
Veyckemans, Francis

Publication type:

Article

Anesthetic challenges in lamellar ichthyosis.

Published in:

Pediatric Anesthesia, 2012, v. 22, n. 5, p. 492, doi. 10.1111/j.1460-9592.2011.03749.x

By:

Hegde, Harihar V.;
Annigeri, Venkatesh M.;
Pai, Varadraj V.

Publication type:

Article

Augmentation Mammaplasty for Mammarial Hypotrophy and Ptosis in a Patient with Ichthyosis.

Published in:

Aesthetic Plastic Surgery, 2003, v. 27, n. 4, p. 293, doi. 10.1007/s00266-003-3052-8

By:

Coban, Y. Kenan;
Sasmaz, Sezai;
Celik, Mustafa

Publication type:

Article

Harlequin ichthyosis and juvenile idiopathic arthritis: a rare combination.

Published in:

2007

By:

Clement, Siân;
Burrows, Nigel;
Sansome, Alison;
Hazleman, Brain;
Östör, Andrew

Publication type:

Letter

Retaining Skin Barrier Function Properties of the Stratum Corneum with Components of the Natural Moisturizing Factor—A Randomized, Placebo-Controlled Double-Blind In Vivo Study.

Published in:

Molecules, 2021, v. 26, n. 6, p. 1649, doi. 10.3390/molecules26061649

By:

Schleusener, Johannes;
Salazar, Andrew;
von Hagen, Jörg;
Lademann, Jürgen;
Darvin, Maxim E.;
Celeiro, Maria;
Llompart, Maria

Publication type:

Article

Therapeutic effects of bentonite-containing soap in a patient with epidermolytic ichthyosis.

Published in:

Archives of Dermatological Research, 2025, v. 317, n. 1, p. 1, doi. 10.1007/s00403-025-04137-7

By:

Zafar, Kayla;
Lee, Austin;
Kabakova, Margaret;
Melton, Terry;
Jagdeo, Jared

Publication type:

Article

Acquired ichthyosis: a clinical review.

Published in:

Archives of Dermatological Research, 2023, v. 315, n. 9, p. 2529, doi. 10.1007/s00403-023-02668-5

By:

Haber, Roger;
Feghali, Joelle;
Nadir, Umer;
Yi, Michael D.;
Cahn, Brian A.

Publication type:

Article

A cross-sectional study to find association of VDR gene polymorphism with non-syndromic congenital ichthyosis and with vitamin D deficiency.

Published in:

Archives of Dermatological Research, 2023, v. 315, n. 3, p. 551, doi. 10.1007/s00403-022-02399-z

By:

Kaushik, Hitaishi;
Mahajan, Rahul;
Dabas, Garima;
Shrivastava, Niharika;
Ashraf, Raihan;
De, Dipankar;
Pal, Arnab;
Kumar, Rakesh;
Handa, Sanjeev

Publication type:

Article

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.

Published in:

Archives of Dermatological Research, 2023, v. 315, n. 2, p. 305, doi. 10.1007/s00403-022-02325-3

By:

Lefferdink, Rachel;
Rangel, Stephanie M.;
Chima, Margot;
Ibler, Erin;
Pavel, Ana B.;
Kim, HeeJin;
Wu, Benedict;
Abu-Zayed, Hajar;
Wu, Jianni;
Jackson, Kathryn;
Singer, Giselle;
Choate, Keith A.;
Guttman-Yassky, Emma;
Paller, Amy S.

Publication type:

Article

Non-invasive methods for evaluation of skin manifestations in patients with ichthyosis.

Published in:

Archives of Dermatological Research, 2020, v. 312, n. 4, p. 231, doi. 10.1007/s00403-019-01987-w

By:

Cortés, Hernán;
Figueroa-González, Gabriela;
Reyes-Hernández, Octavio D.;
Magaña, Jonathan J.;
Leyva-García, Norberto;
Cariño-Calvo, Lizbeth;
González-Del Carmen, Manuel;
Leyva-Gómez, Gerardo

Publication type:

Article

Pharmacological treatments for cutaneous manifestations of inherited ichthyoses.

Published in:

Archives of Dermatological Research, 2020, v. 312, n. 4, p. 237, doi. 10.1007/s00403-019-01994-x

By:

Cortés, Hernán;
Del Prado-Audelo, María L.;
Urbán-Morlán, Zaida;
Alcalá-Alcalá, Sergio;
González-Torres, Maykel;
Reyes-Hernández, Octavio D.;
González-Del Carmen, Manuel;
Leyva-Gómez, Gerardo

Publication type:

Article

Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.

Published in:

Archives of Dermatological Research, 2019, v. 311, n. 9, p. 721, doi. 10.1007/s00403-019-01953-6

By:

Amr, Khalda;
El-Bassyouni, Hala T.;
Ismail, Samira;
Youness, Eman;
El-Daly, Sherien M.;
Ebrahim, Abeer Y.;
El-Kamah, Ghada

Publication type:

Article

Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

Published in:

Archives of Dermatological Research, 2017, v. 309, n. 10, p. 773, doi. 10.1007/s00403-017-1780-x

By:

Rasheed, Madiha;
Shahzad, Shaheen;
Zaeem, Afifa;
Afzal, Imran;
Gul, Asma;
Khalid, Sumbal

Publication type:

Article

The effect of two endogenous retinoids on the mRNA expression profile in human primary keratinocytes, focusing on genes causing autosomal recessive congenital ichthyosis.

Published in:

Archives of Dermatological Research, 2014, v. 306, n. 8, p. 739, doi. 10.1007/s00403-014-1476-4

By:

Törmä, H.;
Bergström, A.;
Ghiasifarahani, G.;
Berne, B.

Publication type:

Article

Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.

Published in:

Archives of Dermatological Research, 2012, v. 304, n. 5, p. 377, doi. 10.1007/s00403-012-1207-7

By:

Dahlqvist, Johanna;
Westermark, Gunilla;
Vahlquist, Anders;
Dahl, Niklas

Publication type:

Article

Ichthyosis in Sjögren–Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.

Published in:

Archives of Dermatological Research, 2010, v. 302, n. 6, p. 443, doi. 10.1007/s00403-009-1022-y

By:

Rizzo, William B.;
S'Aulis, Dana;
Jennings, M. Anitia;
Crumrine, Debra A.;
Williams, Mary L.;
Elias, Peter M.

Publication type:

Article

Rapid detection of homozygous mutations in congenital recessive ichthyosis.

Published in:

Archives of Dermatological Research, 2008, v. 300, n. 2, p. 81, doi. 10.1007/s00403-007-0815-0

By:

Lugassy, Jennie;
Hennies, Hans Christian;
Indelman, Margarita;
Khamaysi, Ziad;
Bergman, Reuven;
Sprecher, Eli

Publication type:

Article

A novel congenital ichthyosiform syndrome with associated panhypopituitarism, corneal opacities and mental retardation.

Published in:

Archives of Dermatological Research, 2007, v. 299, n. 9, p. 457, doi. 10.1007/s00403-007-0783-4

By:

Pandhi, Deepika;
Khanna, Deepshikha;
Singal, Archana;
Madhu, Sri

Publication type:

Article

Rare clinical case of harlequin ichthyosis: opportunities and difficulties of prenatal diagnosis.

Published in:

Perinatal Journal, 2024, v. 32, n. 1, p. 62, doi. 10.59215/prn.24.0321010

By:

Normuradova, Nodira

Publication type:

Article

Gastroenteritida u pacientky s Harlequin ichtyózou.

Published in:

Pediatrie pro Praxi, 2019, v. 20, n. 4, p. 248, doi. 10.36290/ped.2019.076

By:

Pinková, Blanka;
Borská, Romana;
Fajkusová, Lenka;
Dostálková, Dana;
Bučková, Hana

Publication type:

Article

A newborn with peeling skin.

Published in:

Journal of Family Practice, 2009, v. 58, n. 6, p. 317

By:

Zeller, T. Aaron;
Karel, Daphne J.;
Usatine, Richard R.

Publication type:

Article

HARLEQUIN ICHTHYOSIS - A CASE REPORT AND REVIEW OF LITERATURE.

Published in:

2015

By:

Manila, Kaushal;
Anupama, Dave;
Shared, Thora;
Shikha, Chouksey

Publication type:

Case Study

Chanarin-Dorfman Syndrome: A Case Report.

Published in:

Gazi Medical Journal, 2021, v. 32, n. 1, p. 123, doi. 10.12996/gmj.2021.25

By:

Akbulut, Ulas Emre;
Kalkan, Tarkan;
Isik, Ishak Abdurrahman;
Atalay, Atike

Publication type:

Article

Rare Case Abstracts.

Published in:: Gazi Medical Journal, 2020, v. 31, n. 2, p. P25
Publication type:: Article

Poster Presentatn Abstracts.

Published in:: Gazi Medical Journal, 2020, v. 31, n. 2, p. P59
Publication type:: Article

Invited Speaker Abstracts.

Published in:: Gazi Medical Journal, 2020, v. 31, n. 2, p. P2
Publication type:: Article

The First Reported Japanese Case of PNPLA1‐Nonsyndromic Epidermal Differentiation Disorder (PNPLA1‐nEDD) Associated With an Unreported 92‐Base‐Pair Duplication Variant.

Published in:

2025

By:

Kato, Shiori;
Takeichi, Takuya;
Jojima, Keisuke;
Kato, Maiko;
Omi, Michiya;
Tanahashi, Kana;
Otsuka, Atsushi;
Muro, Yoshinao;
Kihara, Akio;
Akiyama, Masashi

Publication type:

Case Study

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

Human filaggrin monomer does not seem to be a proteasome target.

Published in:

Experimental Dermatology, 2024, v. 33, n. 1, p. 1, doi. 10.1111/exd.14772

By:

Briot, Julie;
Arbey, Eric;
Goudounèche, Dominique;
Bernard, Dominique;
Simon, Michel;
Méchin, Marie‐Claire

Publication type:

Article

A Palindromic Motif in the -2084 to -2078 Upstream Region is Essential for ABCA12 Promoter Function in Cultured Human Keratinocytes.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep06737

By:

Shimizu, Yoshitaka;
Ogawa, Yasushi;
Sugiura, Kazumitsu;
Takeda, Jun-ichi;
Sakai-Sawada, Kaori;
Yanagi, Teruki;
Kon, Atsushi;
Sawamura, Daisuke;
Shimizu, Hiroshi;
Akiyama, Masashi

Publication type:

Article

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 8, p. 685, doi. 10.3390/metabo12080685

By:

Zeng, Fansi;
Qin, Wenzhen;
Huang, Feifei;
Chang, Pingan

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

Ichthyosis and hereditary cornification disorders in dogs.

Published in:

Veterinary Dermatology, 2021, v. 32, n. 6, p. 567, doi. 10.1111/vde.13033

By:

Mauldin, Elizabeth A.;
Elias, Peter M.

Publication type:

Article

Erratum.

Published in:: 2019
Publication type:: Correction Notice

Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study.

Published in:

Veterinary Dermatology, 2018, v. 29, n. 4, p. 323, doi. 10.1111/vde.12654

By:

Puigdemont, Anna;
Furiani, Nicla;
De Lucia, Michela;
Carrasco, Isaac;
Ordeix, Laura;
Fondevila, Dolors;
Ramió‐Lluch, Laura;
Brazis, Pilar

Publication type:

Article

Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation.

Published in:

British Journal of Dermatology, 2016, v. 175, n. 6, p. 1372, doi. 10.1111/bjd.14969

By:

Ortega ‐ Recalde, O.;
Silgado, D.;
Fetiva, C.;
Fonseca, D.J.;
Laissue, P.

Publication type:

Article

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

Published in:

British Journal of Dermatology, 2016, v. 175, n. 5, p. 1061, doi. 10.1111/bjd.14644

By:

Leclerc ‐ Mercier, S.;
Lemoine, R.;
Bigorgne, A.E.;
Sepulveda, F.;
Leveau, C.;
Fischer, A.;
Mahlaoui, N.;
Hadj ‐ Rabia, S.;
Saint Basile, G.

Publication type:

Article

Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond.

Published in:

British Journal of Dermatology, 2016, v. 175, p. 4, doi. 10.1111/bjd.14997

By:

McLean, W.H.I.

Publication type:

Article

Cover image: Unpeeling the layers of harlequin ichthyosis.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 5, p. 1160, doi. 10.1111/bjd.14469

By:

Harris, A.G.;
Choy, C.;
Pigors, M.;
Kelsell, D.P.;
Murrell, D.F.

Publication type:

Article

Copy-number variation of the filaggrin gene in Korean patients with atopic dermatitis: what really matters, 'number' or 'variation'?

Published in:

British Journal of Dermatology, 2016, v. 174, n. 5, p. 1098, doi. 10.1111/bjd.14287

By:

Li, K.;
Seok, J.;
Park, K.Y.;
Yoon, Y.;
Kim, K.H.;
Seo, S.J.

Publication type:

Article

Autosomal recessive congenital ichthyoses in the Czech Republic.

Published in:

British Journal of Dermatology, 2016, v. 174, n. 2, p. 405, doi. 10.1111/bjd.13918

By:

Bučková, H.;
Nosková, H.;
Borská, R.;
Réblová, K.;
Pinková, B.;
Zapletalová, E.;
Kopečková, L.;
Horký, O.;
Němečková, J.;
Gaillyová, R.;
Nagy, Z.;
Veselý, K.;
Hermanová, M.;
Stehlíková, K.;
Fajkusová, L.

Publication type:

Article

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.

Published in:

British Journal of Dermatology, 2015, v. 173, n. 5, p. 1291, doi. 10.1111/bjd.13895

By:

Pohler, E.;
Cunningham, F.;
Sandilands, A.;
Cole, C.;
Digby, S.;
McMillan, J.R.;
Aristodemou, S.;
McGrath, J.A.;
Smith, F.J.D.;
McLean, W.H.I.;
Munro, C.S.;
Zamiri, M.

Publication type:

Article

Prioritization of therapy uncertainties in congenital ichthyosis: results from a Priority Setting Partnership.

Published in:

British Journal of Dermatology, 2015, v. 173, n. 5, p. 1280, doi. 10.1111/bjd.13914

By:

Hernández ‐ Martín, A.;
Dávila ‐ Seijo, P.;
Lucas, R.;
Baselga, E.;
Redondo, P.;
Martín ‐ Santiago, A.;
Azaña ‐ Defez, J.M.;
González ‐ Viejo, I.;
Jiménez ‐ Ferreres, L.;
González ‐ Enseñat, M.A.;
Arroyo ‐ Manzanal, M.I.;
Soria, J.M.;
Garcia ‐ Doval, I.

Publication type:

Article

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.

Published in:

British Journal of Dermatology, 2015, v. 172, n. 6, p. 1628, doi. 10.1111/bjd.13545

By:

Moosbrugger‐Martinz, V.;
Jalili, A.;
Schossig, A.S.;
Jahn‐Bassler, K.;
Zschocke, J.;
Schmuth, M.;
Stingl, G.;
Eckl, K.M.;
Hennies, H.C.;
Gruber, R.

Publication type:

Article

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

Published in:

British Journal of Dermatology, 2015, v. 172, n. 5, p. 1407, doi. 10.1111/bjd.13473

By:

Takeichi, T.;
Nanda, A.;
Aristodemou, S.;
McMillan, J.R.;
Lee, J.;
Akiyama, M.;
Al‐Ajmi, H.;
Simpson, M.A.;
McGrath, J.A.

Publication type:

Article

Two novel mutations in the LOR gene in three families with loricrin keratoderma.

Published in:

British Journal of Dermatology, 2015, v. 172, n. 4, p. 1158, doi. 10.1111/bjd.13414

By:

Hotz, A.;
Bourrat, E.;
Hausser, I.;
Haftek, M.;
Silva, M.V.;
Fischer, J.

Publication type:

Article

A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.

Published in:

British Journal of Dermatology, 2015, v. 172, n. 1, p. 262, doi. 10.1111/bjd.13361

By:

Kinsler, V.A.;
Drury, S.;
Khan, A.;
Waelchli, R.;
Rukaite, G.;
Barnicoat, A.;
Lench, N.;
Harper, J.I.;
O'Shaughnessy, R.F.L.

Publication type:

Article

Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin.

Published in:

British Journal of Dermatology, 2015, v. 172, n. 1, p. 208, doi. 10.1111/bjd.13131

By:

Sethuraman, G.;
Sreenivas, V.;
Yenamandra, V.K.;
Gupta, N.;
Sharma, V.K.;
Marwaha, R.K.;
Bhari, N.;
Irshad, M.;
Kabra, M.;
Thulkar, S.

Publication type:

Article

Update: advanced methods in three-dimensional organotypic tissue engineering for congenital ichthyosis and other rare keratinization disorders.

Published in:

British Journal of Dermatology, 2014, v. 171, n. 6, p. 1289, doi. 10.1111/bjd.13450

By:

Eckl, K.M.

Publication type:

Article