Results 81 to 90 of about 13,745 (220)

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

open access: yes, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core  

インターロイキン18の表皮性魚鱗癬における重症度マーカーおよび新規治療標的としての有用性の検討 [PDF]

open access: yes, 2023
新潟大学Niigata University博士(医学)Background Epidermolytic ichthyosis (EI) is a major form of nonsyndromic inherited ichthyosis, characterized by erythroderma, marked hyperkeratosis and scale, bulla and erosion at birth, associated with KRT1/KRT10 mutations ...
Ansai, Osamu, 安齋, 理
core   +1 more source

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

open access: yesItalian Journal of Pediatrics, 2022
Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma.
Gregorio Serra   +7 more
doaj   +1 more source

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

Genetics of inherited skin disorders in dogs [PDF]

open access: yes, 2022
Canine genodermatoses represent a broad spectrum of diseases with diverse phenotypes. Modern genetic technology including whole genome sequencing has expedited the identification of novel genes and greatly simplified the establishment of genetic ...
Leeb, Tosso   +2 more
core   +1 more source

Ichthyosis associated with rickets in two Indian children

open access: yesIndian Journal of Dermatology, 2013
We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari   +3 more
doaj   +1 more source

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients [PDF]

open access: yes, 2021
Background Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues.
Blaydon DC   +29 more
core   +1 more source

Bullous Congenitalichthyosiform Erythroderma - PS 1 Type

open access: yesIndian Journal of Dermatology, 2003
We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya   +2 more
doaj  

Epidermal reaction patterns

open access: yesIndian Journal of Dermatopathology and Diagnostic Dermatology, 2015
Changes in the epidermis serve as important histopathological clues to the diagnosis of skin disorders. These peculiar changes are referred to as epidermal reaction patterns.
Aanchal Panth, M Ramam
doaj   +1 more source

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis [PDF]

open access: yes, 2017
Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating ...
Arin, Meral J.   +8 more
core  

Home - About - Disclaimer - Privacy