Results 81 to 90 of about 13,745 (220)
Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
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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]
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
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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
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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]
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
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Ichthyosis associated with rickets in two Indian children
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
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Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients [PDF]
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
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Bullous Congenitalichthyosiform Erythroderma - PS 1 Type
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
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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
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A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis [PDF]
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
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