Results 51 to 60 of about 849 (140)

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

open access: yesAnimal 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   +4 more
wiley   +1 more source

A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis

open access: yesThe Turkish Journal of Pediatrics, 2018
Epidermolytic hyperkeratosis (EHK) is a rare genodermatosis whose prevalence is less than 1 in 100,000. Mutations in either the keratin 1 or keratin 10 genes lead to EHK characterized by congenital erythema and epidermal blisters at birth, followed by ...
Chenyu Zhao   +4 more
doaj   +1 more source

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

open access: yesPediatric 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   +6 more
wiley   +1 more source

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

open access: yesClinical 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   +3 more
wiley   +1 more source

Epidermolytic Hyperkeratosis With Digital Contracture

open access: yesIndian Journal of Dermatology, 2002
We report a case of epidermolytic hyperkeratosis with digital contracture. The patients had hyperkeratotic lichenfified lesions over extensive areas on the body.
Bhat M Ramesh   +2 more
doaj  

Incidental Cutaneous Reaction Patterns: Epidermolytic Hyperkeratosis, Acantholytic Dyskeratosis, and Hailey-Hailey-Like Acantholysis: A Potential Marker of Premalignant Skin Change

open access: yesJournal of Skin Cancer, 2011
Focal acantholytic dyskeratosis (FAD), epidermolytic hyperkeratosis (EHK), and Hailey-Hailey-like acantholysis (HH) represent unique histology reaction patterns, which can be associated with defined phenotypic and genotypic alterations.
Erich M. Gaertner
doaj   +1 more source

Biologics for inherited disorders of keratinisation: A systematic review

open access: yesAustralasian Journal of Dermatology, Volume 65, Issue 2, Page 185-214, March 2024.
Abstract Background/Objectives Recent literature highlights the potential of biologics in the management of inherited disorders of keratinisation. In this study, we conducted a systematic review of existing literature on treatment outcomes of inherited keratinisation disorders treated with biologics.
Michelle K. Y. Chen   +3 more
wiley   +1 more source

Transcriptional differences between vesicular hand eczema and atopic dermatitis

open access: yesContact Dermatitis, Volume 90, Issue 1, Page 23-31, January 2024.
The comparison of the transcriptome of vesicular hand eczema with the transcriptome of atopic dermatitis indicates a common pathophysiology between the two skin diseases, but also reveals transcriptional differences between vesicular hand eczema and atopic dermatitis. Abstract Background Transcriptome analyses of vesicular hand eczema (VHE) indicated a
Fieke M. Rosenberg   +4 more
wiley   +1 more source

Uncommon Endoscopic Findings in a Tylosis Patient: A Case Report

open access: yesCase Reports in Oncology, 2019
Palmoplantar tylosis is a focal non epidermolytic palmoplantar hyperkeratosis and is associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus (OSCC).
Balarama K. Surapaneni   +4 more
doaj   +1 more source

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

open access: yesPLoS ONE, 2018
Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the
Alessandro Terrinoni   +9 more
doaj   +1 more source

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