Results 31 to 40 of about 12,699 (164)
Bilateral systematized epidermolytic verrucous epidermal nevus: A rare entity
Indian Journal of Dermatology, 2015 Verrucous epidermal nevi are congenital, noninflammatory cutaneous hamartomas composed of keratinocytes. They follow the lines of Blaschko and show hyperkeratosis without cellular atypia.
Vivek Mishra +3 more
doaj +1 more source
SDR9C7 missense variant in a Chihuahua with non‐epidermolytic ichthyosis
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 +4 more
wiley +1 more source
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 +1 more source
Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2
Journal of the European Academy of Dermatology and Venereology, Volume 37, Issue 4, Page 817-822, April 2023., 2023 Abstract Background Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis. Objectives We report on the genetic basis of acral ichthyosis in two families presenting with a similar phenotype.
Leonie Frommherz +11 more
wiley +1 more source
A case of knuckle pad syndrome in a middle‐aged man
Clinical Case Reports, Volume 10, Issue 12, December 2022., 2022 Knuckle pads are uncommonly encountered in clinical practice and may be mistaken for other rheumatologic diseases. They are benign, typically manifest in early adulthood, and may be idiopathic, hereditary, or acquired. They have a distinct appearance on musculoskeletal ultrasound, which can be used to spare unnecessary further diagnostic evaluation ...
Zachary Chandler +3 more
wiley +1 more source
Advances in Dermatology and Allergology, 2020 Introduction Mutations in the KRT1 gene encoding keratin 1 cause epidermolytic hyperkeratosis characterized by blistering in the neonatal period followed by ichthyotic hyperkeratosis in childhood and adolescent life.
Katarzyna Osipowicz +7 more
semanticscholar +1 more source
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
semanticscholar +1 more source
Epidermolytic hyperkeratosis with rickets
Indian Journal of Dermatology, Venereology and Leprology, 2006 A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets.
Surajit Nayak +4 more
openaire +3 more sources
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin
Case Reports in Dermatology, 2015 Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa +5 more
doaj +1 more source
Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis
, 2023 Animal Genetics, Volume 54, Issue 5, Page 652-654, October 2023.
Sarah Kiener +4 more
wiley +1 more source