ArticleThe British journal of dermatology2014
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.
Article in The British journal of dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 15 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
- Exacerbation of Galli-Galli Disease Following Dialysis Treatment: A Case Report and Review of Aggravating Factors.Cureus · 2021Article
- Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease.The Journal of clinical and aesthetic dermatology · 2020Review
- Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.The British journal of dermatology · 2017Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundReticulate pigmentary disorders include the rare autosomal dominant Galli-Galli disease (GGD) and Dowling-Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical features, therefore analysis at the molecular level may be necessary to confirm the diagnosis.
objectivesTo identify the underlying genetic defect in a 48-year-old Asian-American woman with a clinical diagnosis of GGD.
methodsHistological analysis was performed on a skin biopsy using haematoxylin-eosin staining. KRT5 (the gene encoding keratin 5) was amplified from genomic DNA and directly sequenced.
resultsThe patient had a history of pruritus and hyperpigmented erythematous macules and thin papules along the flexor surfaces of her arms, her upper back and neck, axillae and inframammary areas. Hypopigmented macules were seen among the hyperpigmentation. A heterozygous 1-bp insertion mutation in KRT5 (c.38dupG; p.Ser14GlnfsTer3) was identified in the proband. This mutation occurs within the head domain of the keratin 5 protein leading to a frameshift and premature stop codon.
conclusionsFrom the histological findings and mutation analysis the individual was identified as having GGD due to haploinsufficiency of keratin 5.
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