Results 31 to 40 of about 389 (146)

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

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

A Patient With Concurrent Hidradenitis Suppurativa and Porokeratosis Palmaris et Plantaris Disseminata: Case Report and Review of Autoinflammatory Keratinization Diseases. [PDF]

open access: yesJ Cutan Pathol
ABSTRACT The term autoinflammatory keratinization diseases (AIKDs) was recently proposed as a unifying concept for diseases characterized by inflammation in the epidermis and upper dermis which leads to hyperkeratosis, caused by genetic perturbations of the innate immune system.
Rogers MC   +3 more
europepmc   +2 more sources

DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS: A CLINICAL CASE REPORT

open access: yesМедицинский вестник Юга России, 2014
We present a case of superficial disseminated actinic porokeratosis in a 56-year-old male patient. Clinical and laboratory criteria of the disease and approaches to its treatment are discussed in the article.
L. A. Anisimova   +2 more
doaj   +1 more source

Follicular porokeratosis at alae nasi; A case report and short review of literature

open access: yesIndian Journal of Dermatology, 2014
Porokeratosis are disorders of keratinization, characterized histologically by a parakeratotic column, the cornoid lamellae, and clinically by a distinct peripheral ridge.
Emine Nur Rifaioglu   +1 more
doaj   +1 more source

Disseminated superficial actinic porokeratosis

open access: yesInternational Journal of Advances in Medicine, 2015
Disseminated Superficial Actinic Porokeratosis (DSAP) is a type of porokeratosis observed in parts of the skin exposed to intense sunlight and usually appears in the third or fourth decade of life. We are presenting a case report of a 30 year old male patient presenting with multiple lesions over the face and limbs.
K Dhillon   +7 more
openaire   +2 more sources

The role of dermatoscopy in diagnostics superficial disseminated actinic po-rokeratosis [PDF]

open access: yesСаратовский научно-медицинский журнал, 2017
We present a case of disseminated superficial actinic porokeratosis and describe general dermoscopic features.
Sherstobitova K.Y.   +2 more
doaj  

Malignant Transformation in a Genitocrural Porokeratosis : A Case Report

open access: yesNepal Journal of Dermatology, Venereology & Leprology
Porokeratosis is a rare heterogenous group of keratinization disorder with an unclear pathogenesis, and has varied clinical presentations. It may present with annular papules or plaques with central atrophy and clinically and histologically distinct ...
Mrunali Joshi   +3 more
doaj   +3 more sources

Characteristics of glioblastomas and immune microenvironment in a Chinese family with Lynch syndrome and concurrent porokeratosis

open access: yesFrontiers in Oncology, 2023
BackgroundLynch syndrome (LS)-associated glioblastoma (GBM) is rare in clinical practice, and simultaneous occurrence with cutaneous porokeratosis is even rarer.
Zhi-Gang Yao   +14 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

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