Results 21 to 30 of about 5,312 (130)

Bullae and Scales in a Newborn

JEADV Clinical Practice
JEADV Clinical Practice, Volume 5, Issue 2, Page 719-721, June 2026.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
doaj   +2 more sources

A mixed-methods online survey approach using retrospective self-reporting to characterise congenital ichthyoses across age groups [PDF]

Orphanet Journal of Rare Diseases
Background The ichthyoses are a group of rare, dermatological conditions characterised by dry, thickened scales across the body and impaired skin barrier function.
Talia Elgie, William Davies, Georgina H. Wren   +2 more
doaj   +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

Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation [PDF]

JAAD Case Reports, 2020
Angela Hernandez-Martin, Alejandra Reolid   +1 more
exaly   +2 more sources

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in <i>KRT2</i>. [PDF]

Int J Mol Sci, 2022
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in KRT2 and frequently shows erythroderma and widespread blistering at birth.
Suzuki Y, Takeichi T, Tanahashi K, Muro Y, Suga Y, Ogi T, Akiyama M.   +6 more
europepmc   +2 more sources

Epidermolytic Ichthyosis Sine Epidermolysis. [PDF]

Am J Dermatopathol, 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 M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E.   +18 more
europepmc   +2 more sources

A novel mutation resulting in keratin 1–linked palmoplantar keratoderma with epidermolytic ichthyosis [PDF]

JAAD Case Reports, 2020
Taylor Gray, DO, Christopher White, DO, Maheera Farsi, DO, Joseph Dyer, DO, Richard Miller, DO   +4 more
doaj   +2 more sources

SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis. [PDF]

, 2023
Ichthyoses represent a heterogeneous group of cornification disorders that are associated with skin barrier defects. We investigated a 9-month-old Chihuahua showing excessive scale formation.
Vidhya Jagannathan, Jagannathan, Vidhya, Kiener, Sarah, Leeb, Tosso, Welle, Monika, Eloy Castilla, Tosso Leeb, Monika Welle, Castilla, Eloy, Sarah Kiener   +9 more
core   +3 more sources

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. [PDF]

Clin Exp Dermatol, 2019
Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due
Smith FJD, Kreuser-Genis IM, Jury CS, Wilson NJ, Terron-Kwiatowski A, Zamiri M.   +5 more
europepmc   +2 more sources

Superficial epidermolytic ichthyosis in a neonate

Indian Journal of Paediatric Dermatology, 2023
Superficial epidermolytic ichthyosis (SEI) is a rare blistering disorder, manifesting as blisters and hyperkeratosis. It has characteristic histopathological features, hyperkeratosis, vacuolar degeneration of the granular layer, and subcorneal split ...
Pandharinath Keshav Khade, Sunanda Arun Mahajan, Ketki Shekhar Bhoite   +2 more
doaj   +1 more source