Results 51 to 60 of about 12,699 (164)

Epidermal Nevi and Epidermal Naevus Syndromes

open access: yesJEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini   +2 more
wiley   +1 more source

Epidermolytic Hyperkeratosis: Applied Molecular Genetics

open access: yesJournal of Investigative Dermatology, 1994
Epidermolytic hyperkeratosis is an autosomal dominant ichthyosis characterized by blistering, especially at birth and during childhood, and hyperkeratosis. Epidermolytic hyperkeratosis presents striking clinical heterogeneity, particularly between families.
Moshell, Alan N.   +2 more
openaire   +3 more sources

Diagnostic Workup of Mosaicism in Children

open access: yesJEADV Clinical Practice, Volume 4, Issue 3, Page 659-663, August 2025.
ABSTRACT Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential ...
Francesca Besagni   +4 more
wiley   +1 more source

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

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

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

Extramammary Paget disease with histologic presence of epidermolytic hyperkeratosis: An unusual presentation

open access: yesIndian Journal of Dermatology, Venereology and Leprology, 2018
341 Indian Journal of Dermatology, Venereology and Leprology | Volume 84 | Issue 3 | May-June 2018 2. Bhushan P, Thatte SS, Singh A. Angioma serpiginosum: A case series of 4 patients. Indian J Dermatol Venereol Leprol 2016;82:588. 3.
A. Bhatta, Yeqiang Liu, U. Keyal
semanticscholar   +1 more source

Epidermolytic hyperkeratosis with a rare digital contracture

open access: yesIndian 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.
Chinmoy Kar   +3 more
openaire   +3 more sources

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  

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