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.
Verena K Affolter +4 more
doaj +2 more sources
Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis [PDF]
, 2023 Animal Genetics, Volume 54, Issue 5, Page 652-654, October 2023.
Sarah Kiener +4 more
wiley +3 more sources
Epidermolytic Hyperkeratosis [PDF]
Definitions, 2020 Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of ...
Epidermolytic hyperkeratosis
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Mosaic epidermolytic ichthyosis - case report [PDF]
Anais Brasileiros de Dermatologia, 2013 Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma.
Marcela Sena Teixeira Mendes +4 more
doaj +2 more sources
Epidermolytic hyperkeratosis with a rare digital contracture
Indian Journal of Dermatology, Venereology and Leprology, 2007 A sixteen year-old male patient with no history of consanguinity in the family, reported with patchy, thickened lichenified plaques over the whole body. Some areas had normal skin while some were Blaschkoid lesions. The child had delayed milestones along with hypogonadism. Digital contracture with palmoplantar keratoderma was present.
Sudip Das +3 more
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A Case of Epidermolytic Ichthyosis with Massive Hyperkeratosis Successfully Treated with Systemic Etretinate [PDF]
Clinical & Experimental Dermatology and Therapies, 2023 Eijiro Akasaka +4 more
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Genetic Bases of Epidermolysis Bullosa Simplex and Epidermolytic Hyperkeratosis
Journal of Investigative Dermatology, 1994 Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins assemble into 10-nm filaments have provided the foundation that has led to the discoveries of the genetic ...
Elaine Fuchs +9 more
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Hiperceratose epidermolítica: um seguimento de 23 anos de uso de retinoides orais Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids [PDF]
Anais Brasileiros de Dermatologia, 2011 A hiperceratose epidermolítica é uma forma de ictiose geralmente resistente a tratamentos tópicos. Relata-se um caso de paciente feminina , em acompanhamento na dermatologia desde 1978, com diagnóstico de hiperceratose epidermolítica.
Priscila Wolf Nassif +4 more
doaj +2 more sources
Epidermolytic hyperkeratosis with Vitamin D deficiency rickets in a 5-year-old Indian girl
, 2015 We report a 5-year-old child with hyperkeratotic lesions over upper and lower limbs, with bowing of legs and limping. It was proved to be epidermolytic hyperkeratosis (EHK) with nutritional rickets on the basis of clinical, biochemical, radiological and ...
Amrita Roy +3 more
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A Novel Substitution in Keratin 10 in Epidermolytic Hyperkeratosis [PDF]
Journal of Investigative Dermatology, 1999 Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10), and several K1 and K10 point mutations have been identified as the molecular basis of epidermolytic ...
Meral J. Arin +7 more
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