Results 71 to 80 of about 5,312 (130)

Congenital Non‐Epidermolytic Ichthyosis in Two Littermate Mixed‐Breed Yorkshire Terriers

Author Contributions: C. Lorente-Méndez: conceptualization, supervision, and writing. S.Peña: acquisition of data, and writing. A. Cerezo: supervision andwritingCongenital non-epidermolytic ichthyosis was diagnosed in two littermate mixed-breed Yorkshire
Cerezo, A., Lorente Méndez, María del Carmen, Peña, S.   +2 more
core   +1 more source

The Fibrous Proteins In Various Types Of Ichthyosis [PDF]

, 1975
The stratum corneum of individuals with ichthyosis vulgaris, sex-linked ichthyosis, lamellar ichthyosis, and epidermolytic hyperkeratosis has been studied.
L.D. Lee, Lee, L.D., Baden, H.P., Goldsmith, L.A., H.P. Baden, L.A. Goldsmith   +5 more
core   +1 more source

Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa

Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.
Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress‐induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the COL7A1 gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging.
Lauren Yacobucci, Carli Edwards, Annika Van Oosbree, Roger Newman, Denis A. Cozzi   +4 more
wiley   +1 more source

Systematized epidermolytic epidermal nevus (ichthyosis hystrix) [PDF]

, 2015
Ichthyosis hystrix is a term used to describe an autosomal dominant rare form of an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales. We present a healthy 22-year-old man with lesions which clinically and histopathologically
Márina, Sonya; Medical University - Sofia, Bulgaria Dep. of Dermatology and Venereology, Guleva, Dimitrina; Medical University - Sofia, Bulgaria Dep. of Dermatology and Venereology, Semkova, Kristina; Medical University - Sofia, Bulgaria Dep. of Dermatology and Venereology, Kazandjieva, Jana; Medical University - Sofia, Bulgaria Dep. of Dermatology and Venereology   +3 more
core   +3 more sources

Heterozygous DSP in‐frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities

Animal Genetics, Volume 55, Issue 5, Page 725-732, October 2024.
Abstract Ichthyoses comprise a large heterogeneous group of skin disorders, characterized by generalized scaly and hyperkeratotic skin. We investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth.
Sarah Kiener, Georg Lehner, Vidhya Jagannathan, Monika Welle, Tosso Leeb   +4 more
wiley   +1 more source

Clinical Spectrum of Congenital Ichthyosis in Pediatric Age Group from a Tertiary Care Center in India

Indian Journal of Paediatric Dermatology
Objective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta, Damini Verma, Himadri, Apaopa Jemima Thekho, Ayushman Bindal   +4 more
doaj   +1 more source

A Family with Palmar and Plantar Hyperkeratosis: A Quiz

Acta Dermato-Venereologica, 2020
is missing (Quiz)
Hazem A. Juratli, Sabine Jägle, Rudolf Happle, Pinar Avci, Dario Didona, Judith Fischer   +5 more
doaj   +1 more source

Epidermal nevi and epidermolytic hyperkeratosis: A review of cases, highlighting indications for biopsy and genetics referral

Pediatric Dermatology, Volume 41, Issue 5, Page 780-785, September/October 2024.
Abstract Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ...
Jessie M. Nelson, Jacqueline M. Isaac, Julie E. Mervak, Jennifer B. Mancuso, May P. Chan, Amanda Arreola, Kelly B. Cha   +6 more
wiley   +1 more source

Rare epidermolytic nevus in children caused by mosaic variation of KRT10 gene: a case report [PDF]

Linchuang erke zazhi
Objective Epidermolytic nevus (EN) is a mosaic phenotype of epidermolytic ichthyosis (EI). This study reported a rare case of EN caused by mosaic mutation of KRT10 gene, and explored the genotype and phenotype of this disease.
PAN Chaolan, CHENG Wenjie, ZHANG Jia
doaj   +1 more source

X‐linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message Cutaneous scaling and associated clinical syndrome displayed in X‐linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management.
Sunil Bhatta, Sukriti Pandit, Pratik Chaudhary, Naresh Thapa Chhetri   +3 more
wiley   +1 more source