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, Vol. 20, No. 11, 11.2022, p. 1423-1429.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
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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 -