Mast cell activation in Dowling-Degos disease

Knuever, J. and Persa, O. D. and Illerhaus, A. and Ralser, D. J. and Hartmann, Karin and Betz, R. C. and Tantcheva-Poór, I.. (2019) Mast cell activation in Dowling-Degos disease. British Journal of Dermatology, 181 (6). pp. 1312-1314.

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Dowling-Degos disease (DDD OMIM 179850) is a rare autosomal-dominant genodermatosis in the spectrum of reticulate pigmented anomalies that usually presents after puberty. It is characterised by reticulate hyperpigmentation and small brownish papules, located at various regions depending on the mutation. Loss-of-function mutations in the genes KRT5, POGLUT1, POFUT1 and PSENEN were identified for DDD. Patients with KRT5 mutations usually develop their lesions at intertriginous areas, whereas patients with POGLUT1 often show affected extremities. Histology reveals downward elongations of rete ridges with a reticulated or fenestrated pattern, occasional horn cysts and basal hyperpigmentation. The phenotype depends on the affected gene. This article is protected by copyright. All rights reserved.
Faculties and Departments:03 Faculty of Medicine > Bereich Spezialfächer (Klinik) > Dermatologie USB > Allergologie (Hartmann)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Spezialfächer (Klinik) > Dermatologie USB > Allergologie (Hartmann)
03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Allergy and Immunity (Hartmann)
UniBasel Contributors:Hartmann, Karin
Item Type:Article, refereed
Article Subtype:Further Journal Contribution
Note:Publication type according to Uni Basel Research Database: Journal item
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Last Modified:08 Jul 2020 13:26
Deposited On:08 Jul 2020 13:26

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