Results 11 to 20 of about 12,699 (164)

Epidermolytic hyperkeratosis: clinical update

Clinical, Cosmetic and Investigational Dermatology, 2019
Denice Peter Rout,* Anushka Nair,* Anand Gupta, Piyush KumarAmity Institute of Biotechnology, Amity University Mumbai, Navi Mumbai, India*These authors contributed equally to this workAbstract: Epidermolytic hyperkeratosis (EHK), earlier termed as ...
Peter Rout D, Nair A, Gupta A, Kumar P
doaj   +6 more sources

Epidermolytic Hyperkeratosis: A Challenging Pathology for Clinical Correlation

Balkan Medical Journal, 2019
A 1.5-year-old Egyptian boy was presented with widespread, brownish, hyperkeratotic, and slightly verrucous plaques on the skin, since the age of two months.
Hala M. El Hanbuli, Mohamed H. Elmahdi, Marwa A. Salem   +2 more
doaj   +5 more sources

Epidermolytic hyperkeratosis of the vulva. [PDF]

Dermatology Online Journal, 2021
Vulvar epidermolytic hyperkeratosis is a benign entity that mimics other malignant and inflammatory vulvar dermatoses clinically and histologically requiring careful clinical pathologic correlation for diagnosis.
Christina Dai, O. Sokumbi, A. Bruce, Jacqueline M. Thielen, J. Sluzevich   +4 more
semanticscholar   +6 more sources

Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis. [PDF]

Dermatology Online Journal, 2021
Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent ...
P. Putra, S. Radiono, Retno Danarti
semanticscholar   +5 more sources

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.
Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants.
Jessie M Nelson, Jacqueline M Isaac, Julie E. Mervak, Jennifer B. Mancuso, May P Chan, Amanda Arreola, K. B. Cha   +6 more
semanticscholar   +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

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis. [PDF]

Vet Dermatol
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 ...
Rietmann SJ, Clegg JL, Jagannathan V, Wiener DJ, Kallenberg A, Grahn RA, Souza CP, Leeb T.   +7 more
europepmc   +2 more sources

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

The 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, Yonggui Li, Gaoxing Shi, Xiaoliu Shi, Guiying Zhang   +4 more
doaj   +2 more sources

X-linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report. [PDF]

Clin Case Rep
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.
Bhatta S, Pandit S, Chaudhary P, Chhetri NT.   +3 more
europepmc   +2 more sources

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report [PDF]

Frontiers in Immunology
Ichthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling.
Wenjie Cheng, Wenjie Cheng, Wenjie Cheng, Chaolan Pan, Chaolan Pan, Chaolan Pan, Zhe Sun, Zhe Sun, Zhe Sun, Peiyi Sun, Peiyi Sun, Peiyi Sun, Jiawen Li, Jiawen Li, Jiawen Li, Zhirong Yao, Zhirong Yao, Zhirong Yao, Xiaoxiao Wang, Xiaoxiao Wang, Xiaoxiao Wang, Jia Zhang, Jia Zhang, Jia Zhang   +23 more
doaj   +2 more sources