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Article

Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.

European journal of dermatology : EJD - 1 Jan 2000

Glàsz-Bóna Annamária, Medvecz Márta, Virágh Zsófia, Hatvani Zsófia, Blazsek Antal, Kárpáti Sarolta

Abstract excerpt

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare variant of the basal form of EBS, characterized by mild intraepidermal blistering due to lysis of basal keratinocytes and with a progressive reticular hyperpigmentation on the trunk and extremities. A limited number of cases - to date twenty unrelated families - have been published from all over the world, including thirteen reports from...

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Source

Identifiers

PMID: 20923750
DOI: 10.1684/ejd.2010.1080

Genes

KRT5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.PMID 20923750Read ↗

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A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.Semantic proximity Read ↗

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.Semantic proximity Read ↗

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Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.Semantic proximity Read ↗

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