Results 81 to 90 of about 9,426 (154)

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

Naturally occurring genetic diseases caused by de novo variants in domestic animals

Animal Genetics, Volume 55, Issue 3, Page 319-327, June 2024.
Abstract With the advent of next‐generation sequencing, an increasing number of cases of de novo variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understanding the pathology of early‐onset diseases in ...
Luísa Azevedo, Andreia P. Amaro, João Niza‐Ribeiro, Mónica Lopes‐Marques   +3 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

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

PLoS 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, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino   +9 more
doaj   +1 more source

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  

Biologics for inherited disorders of keratinisation: A systematic review

Australasian 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, Alice L. Flanagan, Deshan F. Sebaratnam, Yaron Gu   +3 more
wiley   +1 more source

Autosomal dominant epidermolytic ichthyosis [PDF]

, 2020

openalex   +1 more source

Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis

Animal Genetics, Volume 55, Issue 3, Page 490-492, June 2024.
Sarah Kiener, Susanne Åhman, Robert Cikota, Vidhya Jagannathan, Sohvi Blatter, Iva Cvitas, Sara Soto, Tosso Leeb   +7 more
wiley   +1 more source

Harlequin Ichthyosis: Case Series

Gynecology Obstetrics & Reproductive Medicine
Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. Some risk factors include preterm births and consanguinity.
Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc   +3 more
doaj   +1 more source

086 Familial Tree of Epidermolytic Ichthyosis Suggesting a Novel Genetic Mutation [PDF]

, 2021
M. Foster, Jeffrey S. Jones, Courtney R. Schadt, Jeffrey P. Callen   +3 more
openalex   +1 more source