Results 21 to 30 of about 363,446 (148)

Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 193, Issue 2, Page 109-115, June 2023., 2023
Abstract In autosomal dominant skin disorders, pronounced mosaic involvement may sometimes occur in the neonate, originating in a heterozygous embryo from early loss of heterozygosity, probably during the first week after fertilization. In biallelic phenotypes, such overlaying mosaic involvement may coexist with disseminated mosaicism, for example, in ...
Rudolf Happle
wiley   +1 more source

Focal actinic porokeratosis: A new variant?

open access: yesIndian Journal of Paediatric Dermatology, 2018
Porokeratosis is an autosomal dominantly transmitted disorder of keratinization predominantly affecting trunk and extremities. Many clinical variants have been described having a common histopathological feature of coronoid lamella-porokeratosis of ...
Pihu Sethi   +3 more
doaj   +1 more source

Porokeratosis ptychotropica: a rare manifestation with typical histological exam [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2016
: Porokeratosis is a disorder of epidermal keratinization characterized clinically by a distinctive ridge-like border, and histologically by cornoid lamellae.
John Verrinder Veasey   +5 more
doaj   +2 more sources

Disseminated superficial "actinic" porokeratosis

open access: yesActa Dermato-Venereologica, 1979
An 81-year-old Finnish female had a 10-month history of a very pruritic eruption. In the clinical examination porokeratosis was suspected and histologically verified with the typical cornoid lamellae. The eruption involved also the unexposed areas of the skin. The patient had always avoided sunshine because it made her feel uncomfortable. The patient's
A L, Kariniemi, M L, Kotovirta, S, Stubb
openaire   +2 more sources

Porokeratosis plantaris palmaris et disseminata with pruritic inflammatory changes

open access: yesJEADV Clinical Practice, Volume 2, Issue 2, Page 366-368, June 2023., 2023
Abstract Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare variant of porokeratosis that begins on the palms and soles and subsequently spreads to the trunk and extremities. We report a case of PPPD with pruritic inflammatory changes in a 48‐year‐old man, presenting with a 3‐year history of pruritic papules that initially appeared on his
Kei Hayashi   +2 more
wiley   +1 more source

Disseminated superficial actinic porokeratosis, Bowen's disease and basal cell carcinoma. Coincidence or rare double malignant transformation? [PDF]

open access: yes, 2020
Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that consist of multiple annular, hyperkeratotic lesions. They are usually distributed bilaterally and mostly affect the extremities.
Dimitrova, Jenya; Medical University of Varna   +5 more
core   +5 more sources

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero­zygosity in Affected Skin

open access: yesActa Dermato-Venereologica, 2021
Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit ...
Sabine Jägle   +11 more
doaj   +1 more source

Temozolomide-induced inflammation of disseminated superficial actinic porokeratosis [PDF]

open access: yes, 2018
We report a case of temozolomide (TMZ)-induced inflammation of disseminated superficial actinic porokeratosis (DSAP), an uncommon and pre-malignant cutaneous disorder.
Lee, Dylan E   +3 more
core   +1 more source

Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review

open access: yesGenes and Diseases, 2022
Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase gene (MVK).
Isabelle Touitou
doaj   +1 more source

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