Results 21 to 30 of about 238,615 (114)

Video Demonstration of ABCA12-Related Harlequin Ichthyosis in a Low-Resource Setting: Case Report and Review of Early Management Challenges. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Elendu C, Amaechi DC, Elendu TC, Amaechi EC, Elendu ID, Okolo EH, Uyanwune MC.   +6 more
europepmc   +2 more sources

Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review. [PDF]

Am J Case Rep, 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 ...
Almuqarrab FJ, Alakloby OM, Alqahtani JM, Hennies HC.   +3 more
europepmc   +2 more sources

Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis. [PDF]

J Dermatol
Abstract Epidermolytic ichthyosis (EI) is a type of congenital ichthyosis, characterized by erythema and blistering at birth followed by hyperkeratosis. EI is caused by pathogenic variants in the genes KRT1 and KRT10, encoding the proteins keratin 1 (KRT1) and keratin 10 (KRT10), respectively, and is primarily transmitted by autosomal‐dominant ...
van der Velden JJAJ, van Gisbergen MW, Kamps MAF, Janssen R, Diercks GFH, Steijlen PM, van Geel M, Bolling MC.   +7 more
europepmc   +2 more sources

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]

Anim Genet
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Rietmann SJ, Malatos J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

Genetic testing and new variants in diagnosis of congenital ichthyoses. [PDF]

Mol Genet Genomic Med
The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.
Salo M, Kimpimäki T, Huhtala H, Saarela T.   +3 more
europepmc   +2 more sources

Superficial epidermolytic ichthyosis [PDF]

, 2020
openaire   +2 more sources

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Journal of the European Academy of Dermatology and Venereology, Volume 37, Issue 4, Page 817-822, April 2023., 2023
Abstract Background Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis. Objectives We report on the genetic basis of acral ichthyosis in two families presenting with a similar phenotype.
Leonie Frommherz, Katalin Komlosi, Charlotte Hewel, Julia Kopp, Malin Dewenter, Andreas Zimmer, Oliver Bartsch, Matthias Linke, Kristin Technau‐Hafsi, Susanne Gerber, Judith Fischer, Cristina Has   +11 more
wiley   +1 more source

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Journal of the European Academy of Dermatology and Venereology, Volume 35, Issue 11, Page 2293-2299, November 2021., 2021
Abstract Background Non‐syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth. Although both severe and mild courses are known, the prediction of the natural history in clinical practice may be challenging.
L. Frommherz, A. Krause, J. Kopp, A. Hotz, S. Hübner, A. Reimer‐Taschenbrecker, F. Casetti, B. Zirn, J. Fischer, C. Has   +9 more
wiley   +1 more source

Epidermolytic ichthyosis complicated by staphylococcal scalded skin syndrome in the newborn [PDF]

, 2022
Epidermolytic ichthyosis is characterized by erythema and blistering at birth. We present a neonate with epidermolytic ichthyosis who had a subtle change in clinical findings while hospitalized, including increased fussiness, erythema, and a change in ...
Peck, Gabrielle M, Flood, Kelsey, Marathe, Kalyani   +2 more
core   +1 more source

Epidermolytic Ichthyosis Sine Epidermolysis [PDF]

, 2017
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required ...
Eskin-Schwartz, Marina, Natalia Malchin, Gat, Andrea, Sprecher, Eli, Marianna Drozhdina, Ofer Sarig, Shomron, Noam, Thomas Ruzicka, Green, Kathleen J., Kathleen J. Green, Tomer Jackman, Sergei Koshkin, Jackman, Tomer, Sarig, Ofer, Hovnanian, Alain, Andrea Gat, Noam Shomron, Marina Eskin-Schwartz, Dan Vodo, Drozhdina, Marianna, Ofer Isakov, Isakov, Ofer, Samuelov, Liat, Malchin, Natalia, Alon Peled, Jennifer L. Koetsier, Liat Samuelov, Eli Sprecher, Vodo, Dan, Koetsier, Jennifer L., Koshkin, Sergei, Harmon, Robert M., Robert M. Harmon, Paller, Amy S., Peled, Alon, Alain Hovnanian, Amy S. Paller, Ruzicka, Thomas   +37 more
core   +1 more source