Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation

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Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation. / Papadopoulou, Katharina; Karsai, Syrus; Böer-Auer, Almut.

in: J DTSCH DERMATOL GES, Jahrgang 20, Nr. 11, 11.2022, S. 1423-1429.

Publikationen: SCORING: Beitrag in Fachzeitschrift/ZeitungSCORING: ReviewForschung

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@article{c35986cd9a864e7e97a32aa1347277cb,
title = "Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation",
abstract = "Dowling-Degos disease is a rare benign genodermatosis. It is characterized by lentiginous hyperpigmentation and reddish-brown papules and plaques. The flexor sides and intertrigines are often affected, but the clinical appearance may vary. Mutations in different genes are responsible for the clinical manifestation. While mutations in the keratin 5 (KRT5) gene favor a reticular distribution pattern, mutations in the POGLUT1 gene lead to a disseminated, papular clinical picture. Acantholytic variants of Dowling-Degos disease have historically been referred to as Galli-Galli disease, but our case study shows that the histopathological changes can vary even within a single patient. To date, no standardized therapy concept exists. The main focus is on keratolytic measures, with varying response. New therapeutic approaches using laser technology appear to be a promising treatment option.",
keywords = "Humans, Acantholysis/diagnosis, Glucosyltransferases/genetics, Hyperpigmentation/genetics, Mutation/genetics, Skin Diseases, Papulosquamous/diagnosis",
author = "Katharina Papadopoulou and Syrus Karsai and Almut B{\"o}er-Auer",
note = "{\textcopyright} 2022 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.",
year = "2022",
month = nov,
doi = "10.1111/ddg.14897",
language = "English",
volume = "20",
pages = "1423--1429",
journal = "J DTSCH DERMATOL GES",
issn = "1610-0379",
publisher = "Wiley-Blackwell",
number = "11",

}

RIS

TY - JOUR

T1 - Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation

AU - Papadopoulou, Katharina

AU - Karsai, Syrus

AU - Böer-Auer, Almut

N1 - © 2022 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.

PY - 2022/11

Y1 - 2022/11

N2 - Dowling-Degos disease is a rare benign genodermatosis. It is characterized by lentiginous hyperpigmentation and reddish-brown papules and plaques. The flexor sides and intertrigines are often affected, but the clinical appearance may vary. Mutations in different genes are responsible for the clinical manifestation. While mutations in the keratin 5 (KRT5) gene favor a reticular distribution pattern, mutations in the POGLUT1 gene lead to a disseminated, papular clinical picture. Acantholytic variants of Dowling-Degos disease have historically been referred to as Galli-Galli disease, but our case study shows that the histopathological changes can vary even within a single patient. To date, no standardized therapy concept exists. The main focus is on keratolytic measures, with varying response. New therapeutic approaches using laser technology appear to be a promising treatment option.

AB - Dowling-Degos disease is a rare benign genodermatosis. It is characterized by lentiginous hyperpigmentation and reddish-brown papules and plaques. The flexor sides and intertrigines are often affected, but the clinical appearance may vary. Mutations in different genes are responsible for the clinical manifestation. While mutations in the keratin 5 (KRT5) gene favor a reticular distribution pattern, mutations in the POGLUT1 gene lead to a disseminated, papular clinical picture. Acantholytic variants of Dowling-Degos disease have historically been referred to as Galli-Galli disease, but our case study shows that the histopathological changes can vary even within a single patient. To date, no standardized therapy concept exists. The main focus is on keratolytic measures, with varying response. New therapeutic approaches using laser technology appear to be a promising treatment option.

KW - Humans

KW - Acantholysis/diagnosis

KW - Glucosyltransferases/genetics

KW - Hyperpigmentation/genetics

KW - Mutation/genetics

KW - Skin Diseases, Papulosquamous/diagnosis

U2 - 10.1111/ddg.14897

DO - 10.1111/ddg.14897

M3 - SCORING: Review article

C2 - 36314591

VL - 20

SP - 1423

EP - 1429

JO - J DTSCH DERMATOL GES

JF - J DTSCH DERMATOL GES

SN - 1610-0379

IS - 11

ER -