ArticleIndian journal of dermatology2014
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.
Article in Indian journal of dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 13 citations in OpenAlex.
- Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.JID innovations : skin science from molecules to population health · 2025Article
- Galli-Galli Disease: A Comprehensive Literature Review.Dermatopathology (Basel, Switzerland) · 2024Review
- Atypical cases of Dowling-Degos disease.Indian dermatology online journalArticle
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Authors and funding
6 authors at 4 institutions in 2 countries.
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Abstract
Galli Galli disease (GGD) is the name given to a rare form of acantholytic Dowling-Degos disease. (DDD), the latter itself being a rare condition. We believe we are describing for the first time in Indian dermatologic literature a case of GGD in a family where 25 persons have DDD and have been able to document a KRT5 mutation in four members of the family. Whereas reticulate pigmentation is a hallmark of DDD there are rare reports of mottled pigmentation with multiple asymptomatic hypopigmented macules scattered diffusely along with the pigmentation. All the cases described here show a mottled pigmentation comprising hypo and hyperpigmented asymptomatic macules. After the clinical diagnosis was made by one of the authors (SV) in India, the German authors repeated histological examination and successfully demonstrated a heterozygous nonsense mutation, c.C10T (p.Gln4X), in exon 1 of the KRT5 gene, from various centers in Munich, Bonn, Dusseldorf and Friedrichschafen in Germany.
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