Results 61 to 70 of about 10,297 (160)

Ultrastructural Changes Resulting from Keratin-9 Gene Mutations in Two Families with Epidermolytic Palmoplantar Keratoderma [PDF]

, 1995
Palmoplantar keratodenna of Voerner type (or epidermolytic palmoplantar keratoderma) is an autosoml dominant inherited disorder of keratinization with histologic features of epidermolytic hyperkeratosis, We studied members of two large unrelated kindreds
Leigh, Irene M., Ratnavel, Ravi C., Eady, Robin A.J., Griffiths, D., Birgitte Lane, E., Shamsher, Monee, Andrew, W., Swensson, O.l.e., Navsaria, Harshad A., Irwin McLean, W.H.   +9 more
core   +1 more source

Hiperceratose epidermolítica: um seguimento de 23 anos de uso de retinoides orais Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids

Anais Brasileiros de Dermatologia, 2011
A hiperceratose epidermolítica é uma forma de ictiose geralmente resistente a tratamentos tópicos. Relata-se um caso de paciente feminina , em acompanhamento na dermatologia desde 1978, com diagnóstico de hiperceratose epidermolítica.
Priscila Wolf Nassif, Sadamitsu Nakandakari, Letícia Fogagnolo, Letícia Arsie Contin, Cinthia Janine Meira Alves   +4 more
doaj   +1 more source

Clinical Classification of Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.
Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
wiley   +1 more source

Genetic Bases of Epidermolysis Bullosa Simplex and Epidermolytic Hyperkeratosis [PDF]

, 1994
Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins ...
Hutton, Elizabeth, Syder, Andrew, Vassar, Robert, Cheng, Jian, Letai, Anthony, Degenstein, Linda, Chan, Yiu-mo, Fuchs, Elaine, Yu, Qian-Chun, Coulombe, Pierre   +9 more
core   +1 more source

Annular Epidermolytic Ichthyosis Mimicking Greither Disease:A Case Report and Literature Review

, 2022
BACKGROUND: Annular epidermolytic ichthyosis is a rare form of epidermolytic ichthyosis caused by specific pathogenic variants of KRT1 and KRT10. Classically, it manifests at birth with variable degrees of erythroderma and superficial erosions, which ...
Alakloby, Omar, Almuqarrab, Fatimah, Alqahtani, Jamal, Hennies, Hans   +3 more
core   +1 more source

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis

Veterinary Dermatology, Volume 36, Issue 3, Page 314-320, June 2025.
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann, Jennifer L. Clegg, Vidhya Jagannathan, Dominique J. Wiener, Angelica Kallenberg, Robert A. Grahn, Clarissa P. Souza, Tosso Leeb   +7 more
wiley   +1 more source

Multiple Epidermolytic Acanthomas: Rare Vulval Lesions Which May be Mistaken for Viral Warts

, 2020
Epidermolytic acanthoma is a rare benign lesion that most often presents as a solitary or multiple small papular lesions on the trunk, face, limbs or external male genitalia.
Karim, Afzal, Miller, Keith, Sonya Hutchinson, W. Glenn McCluggage, Jamison, Jackie, Afzal Karim, Keith Miller, Jackie Jamison, Joseph Houghton, Pamela McHenry, Hutchinson, Sonya, Steven Irwin, McHenry, Pamela, Houghton, Joseph, McCluggage, Glenn, Irwin, Steven   +15 more
core   +1 more source

A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma [PDF]

, 1997
Annular epidermolytic ichthyosis has recently been delineated as a distinct clinical phenotype within the spectrum of epidermolytic keratinization disorders.
Traupe, H., Rothnagel, J. A., Roop, Dennis R., Joh, Gwang-Yeol, Nashan, D., Metze, Dieter, Huber, M., Traupe, H., Huber, M., Metze, D., Nashan, D., Traupe, Heiko, Longley, Mary A., Metze, D., Roop, D. R., Roop, D. R., Rothnagel, Joseph A., Longley, M. A., Hohl, D., Nashan, Dorothée, Joh, G. Y., Huber, Marcel, Rothnagel, J. A., Joh, G. Y., Hohl, D., Hohl, Daniel, Longley, M. A.   +26 more
core   +1 more source

CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse

Molecular Therapy: Nucleic Acids, 2018
CRISPR/Cas9 has been confirmed as a distinctly efficient, simple-to-configure, highly specific genome-editing tool that has been used to treat monogenetic disorders.
Xiao-Rui Luan, Xiao-Ling Chen, Yue-Xiao Tang, Jin-Yan Zhang, Xiang Gao, Hai-Ping Ke, Zhao-Yu Lin, Xian-Ning Zhang   +7 more
doaj   +1 more source

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 5, Page 1028-1037, May 2025.
Abstract Background Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as KRT1, KRT2 and KRT10, resulting in conditions such as epidermolytic ichthyosis (EI), autosomal‐recessive EI, superficial EI and epidermal nevus.
Leonie Frommherz, Kathrin Giehl, Josephine Hofmann, Stefanie Huebner, Kirstin Kiekbusch, Teodora Sabkova, Kira Süßmuth, Svenja Alter, Iliana Tantcheva‐Poór, Hagen Ott, Judith Fischer, Cristina Has   +11 more
wiley   +1 more source