Results 11 to 20 of about 238,615 (114)

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

Animal Genetics, Volume 54, Issue 4, Page 562-565, August 2023., 2023
Abstract 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. Clinical and histopathological examinations revealed non‐epidermolytic ichthyosis and a genetic defect was suspected.
Sarah Kiener, Eloy Castilla, Vidhya Jagannathan, Monika Welle, Tosso Leeb   +4 more
wiley   +4 more sources

Scabies in a 14‐year‐old girl with superficial epidermolytic ichthyosis

Pediatric Dermatology, 2021
AbstractA 14‐year‐old girl who reported generalized scaling and hyperkeratosis since age 1 year presented with severe pruritus of several months’ duration. Scabies mites were detected, and molecular genetic analysis subsequently revealed a rare pathogenic variant in the keratin 2 (KRT2) gene, confirming a diagnosis of superficial epidermolytic ...
Igor Vázquez‐Osorio, Noelia Moreiras‐Arias, Patricia Pérez‐Feal, Laura Sainz‐Gaspar, Nelmar Valentina Ortiz‐Cabrera, Angela Hernández‐Martín   +5 more
openaire   +4 more sources

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report. [PDF]

Clin Case Rep
ABSTRACT We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 gene (c.467G>A, p.Arg156His).
Smits E, Naulaers G, Bolling MC, Legius E, Colmant C.   +4 more
europepmc   +3 more sources

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort. [PDF]

J Eur Acad Dermatol Venereol
Abstract Background Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as KRT1, KRT2 and KRT10, resulting in conditions such as epidermolytic ichthyosis (EI), autosomal‐recessive EI, superficial EI and epidermal nevus.
Frommherz L, Giehl K, Hofmann J, Huebner S, Kiekbusch K, Sabkova T, Süßmuth K, Alter S, Tantcheva-Poór I, Ott H, Fischer J, Has C.   +11 more
europepmc   +4 more sources

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis [PDF]

Clinical Case Reports, Volume 8, Issue 12, Page 3078-3080, December 2020., 2020
Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene. Abstract Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes ...
Francesca Caroppo, Elena Cama, Roberto Salmaso, Cinzia Bertolin, Leonardo Salviati, Anna Belloni Fortina   +5 more
wiley   +2 more sources

Epidermolytic ichthyosis without keratin 1 or 10 mutations: A case report

Saudi Journal of Medicine and Medical Sciences, 2018
In this paper, the authors report a case of an 11-year-old boy with epidermolytic ichthyosis who presented with multiple scattered erosions and typical hyperkeratotic plaques over the face, upper and lower extremities, the trunk, palms and soles.
Ali A Al Raddadi, Taha H Habibullah, Ahmed M Abdelaal, Angie M Felimban, Hosam A Al Raddadi, Mohamed B Satti   +5 more
doaj   +2 more sources

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   +2 more sources

A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis. [PDF]

PLoS One, 2022
A 3-months old Chinese shar-pei puppy with ichthyosis was investigated. The dog showed generalized scaling, alopecia and footpad lesions. Histopathological examinations demonstrated a non-epidermolytic hyperkeratosis.
Affolter VK, Kiener S, Jagannathan V, Nagle T, Leeb T.   +4 more
europepmc   +4 more sources

Congenital staphylococcal scalded skin syndrome in a preterm infant. [PDF]

Clin Case Rep, 2023
Key Clinical Message Staphylococcal scalded skin syndrome (SSSS) is a rare condition in premature infants. We report a case of SSSS in a preterm neonate who displayed all clinical manifestations at birth, leading to a fatal outcome from Candida parapsilosis fungemia. The clinical presentation was challenging to differential diagnosis.
Lee TY, Liu TY.
europepmc   +2 more sources

Superficial epidermolytic ichthyosis

Indian Journal of Dermatology, Venereology and Leprology, 2015
Anupam Das
exaly   +2 more sources