Results 21 to 30 of about 6,090 (177)

Annular epidermolytic ichthyosis: a case report and literature review, [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2020
Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita   +3 more
doaj   +2 more sources

Superficial epidermolytic ichthyosis in a neonate

open access: yesIndian Journal of Paediatric Dermatology, 2023
Superficial epidermolytic ichthyosis (SEI) is a rare blistering disorder, manifesting as blisters and hyperkeratosis. It has characteristic histopathological features, hyperkeratosis, vacuolar degeneration of the granular layer, and subcorneal split ...
Pandharinath Keshav Khade   +2 more
doaj   +1 more source

On keratin mutations in epidermolytic hyperkeratosis and the regulation of keratin expression by retinoids [Elektronisk resurs]

open access: yes, 2001
Epidermolytic hyperkeratosis is a rare inherited disease of the skin caused by a dominant-negative mutation in keratin 1 (K1) or 10 (K10). Keratins are the major structural protein in epidermis and mutations causes instability of intermediate filament ...
Virtanen, Marie,
core   +9 more sources

A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation

open access: yesPifu-xingbing zhenliaoxue zazhi, 2022
A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation is reported. A 32-year-old Chinese man presented with a 30-year history of palmoplantar hyperkeratotic plaques.
Wencong XU   +5 more
doaj   +1 more source

Epidermolytic hyperkeratosis

open access: yesDermatology Online Journal, 2006
A 13-year-old boy presented to the dermatology clinic for treatment of a congenital ichthyosis with a history of generalized erythroderma and trauma related blistering at the time of birth. At the time of presentation he was noted to have red corrugated hyperkeratotic plaques involving the joint flexures, dorsal hands, and neck.
Kwak, Juliann, Maverakis, Emanual
openaire   +5 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.

open access: yesPLoS 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   +1 more source

Report of an autosomal recessive epidermolytic ichthyosis

open access: yesIndian Journal of Paediatric Dermatology, 2020
Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized
K S Chandan   +3 more
doaj   +1 more source

Ichthyoses—A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation

open access: yesDermatopathology, 2021
Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening.
Dieter Metze   +2 more
doaj   +1 more source

Mosaic epidermolytic ichthyosis - case report [PDF]

open access: yesAnais 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

Epidermolytic hyperkeratosis with rickets

open access: yesIndian 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   +2 more sources

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