PMC Articles for MedGen (Select 38179) - PMC

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

Int J Mol Sci. 2020 Oct; 21(20): 7707. Published online 2020 Oct 18. doi: 10.3390/ijms21207707

PMCID:: PMC7593923

Abstract Article PDF–2.5M

Select item 75207935.

Epidermolytic acanthoma: A case report

Ariana S Ginsberg, Archeta Rajagopalan, Joseph P Terlizzi

World J Clin Cases. 2020 Sep 26; 8(18): 4094–4099. Published online 2020 Sep 26. doi: 10.12998/wjcc.v8.i18.4094

PMCID:: PMC7520793

Abstract Article PDF–4.4M

Select item 73358856.

Annular epidermolytic ichthyosis: a case report and literature review

Emanuella Stella Mikilita, Irina Paipilla Hernandez, Ana Letícia Boff, Ana Elisa Kiszewski

An Bras Dermatol. 2020 Jul-Aug; 95(4): 484–489. Published online 2020 May 5. doi: 10.1016/j.abd.2019.09.030

PMCID:: PMC7335885

Abstract Article PDF–1001K

Select item 13777907.

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

V P Sybert, J S Francis, L D Corden, L T Smith, M Weaver, K Stephens, W H McLean

Am J Hum Genet. 1999 Mar; 64(3): 732–738. doi: 10.1086/302278

PMCID:: PMC1377790

Summary PDF–1.1M

Select item 16816958.

Localized Epidermolytic Hyperkeratosis of the Female Genitalia: A Case Report and Review of an Underappreciated Disorder of Women

Whitney A. High, Misha D. Miller

MedGenMed. 2005; 7(4): 33. Published online 2005 Nov 3.

PMCID:: PMC1681695

Abstract Article

Select item 71163599.

Novel and Recurrent Mutations in Keratin 1 cause Epidermolytic Ichthyosis (EI) and Palmoplantar Keratoderma

FJD Smith, IM Kreuser-Genis, CS Jury, NJ Wilson, A Terron-Kwiatowski, M Zamiri

Clin Exp Dermatol. Author manuscript; available in PMC 2020 Nov 13.

Published in final edited form as: Clin Exp Dermatol. 2019 Jul 1; 44(5): 528–534. Published online 2018 Oct 4. doi: 10.1111/ced.13800

PMCID:: PMC7116359

Abstract Article PDF–1.1M

Select item 682586510.

Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review

Xiaoliang Liu, Chuang Qiu, Rong He, Yuanyuan Zhang, Yanyan Zhao

Mol Genet Genomic Med. 2019 Nov; 7(11): e977. Published online 2019 Sep 16. doi: 10.1002/mgg3.977

PMCID:: PMC6825865

Abstract Article PDF–731K

Select item 662536211.

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma

Changxing Li, Pingjiao Chen, Silong Sun, Kang Zeng, Jingyao Liang, Qi Wang, Sanquan Zhang, Meinian Xu, Zhijia Li, Xibao Zhang

Mol Genet Genomic Med. 2019 Jul; 7(7): e00703. Published online 2019 May 9. doi: 10.1002/mgg3.703

PMCID:: PMC6625362

Abstract Article PDF–755K

Select item 651261112.

Epidermolytic hyperkeratosis: clinical update

Denice Peter Rout, Anushka Nair, Anand Gupta, Piyush Kumar

Clin Cosmet Investig Dermatol. 2019; 12: 333–344. Published online 2019 May 8. doi: 10.2147/CCID.S166849

PMCID:: PMC6512611

Abstract Article PDF–531K

Select item 191815813.

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.

C. C. Chipev, J. M. Yang, J. J. DiGiovanna, P. M. Steinert, L. Marekov, J. G. Compton, S. J. Bale

Am J Hum Genet. 1994 Feb; 54(2): 179–190.

PMCID:: PMC1918158

Summary Page Browse PDF–1.9M

Select item 619667414.

Epidermolytic Ichthyosis without Keratin 1 or 10 Mutations: A Case Report

Ali A. Al Raddadi, Taha H. Habibullah, Ahmed M. Abdelaal, Angie M. Felimban, Hosam A. Al Raddadi, Mohamed B. Satti

Saudi J Med Med Sci. 2018 Jan-Apr; 6(1): 36–39. Published online 2017 Dec 14. doi: 10.4103/1658-631X.220800

PMCID:: PMC6196674

Abstract Article PDF–1.5M

Select item 1107719815.

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report

Kevin Koschitzki, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml

Clin Case Rep. 2024 May; 12(5): e8881. Published online 2024 May 7. doi: 10.1002/ccr3.8881

PMCID:: PMC11077198

Abstract Article PDF–2.5M

Select item 1148412316.

Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis

J. J. A. J. van der Velden, M. W. van Gisbergen, M. A. F. Kamps, R. Janssen, G. F. H. Diercks, P. M. Steijlen, M. van Geel, M. C. Bolling

J Dermatol. 2024 Sep; 51(9): 1180–1186. Published online 2024 Jul 29. doi: 10.1111/1346-8138.17395

PMCID:: PMC11484123

Abstract Article PDF–2.5M

Select item 556708517.

Epidermolytic Acanthoma on Fingers, Mimicking Flat Warts

Salinee Rojhirunsakool, Suthep Jirasuthat, Kumutnart Chanprapaph

Case Rep Dermatol. 2017 May-Aug; 9(2): 98–101. Published online 2017 Jul 14. doi: 10.1159/000478890

PMCID:: PMC5567085

Abstract Article PDF–604K

Select item 548991218.

Epidermolytic ichthyosis sine epidermolysis

Marina Eskin-Schwartz, Marianna Drozhdina, Ofer Sarig, Andrea Gat, Tomer Jackman, Ofer Isakov, Noam Shomron, Liat Samuelov, Natalia Malchin, Alon Peled, Dan Vodo, Alain Hovnanian, Thomas Ruzicka, Sergei Koshkin, Robert M. Harmon, Jennifer L. Koetsier, Kathleen J. Green, Amy S. Paller, Eli Sprecher

Am J Dermatopathol. Author manuscript; available in PMC 2017 Jun 29.

Published in final edited form as: Am J Dermatopathol. 2017 Jun; 39(6): 440–444. doi: 10.1097/DAD.0000000000000674