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

[epidermolysis bullosa simplex]

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 Â limited number of cases - to date twenty unrelated families - have been published from all over the world , including thirteen reports from Europe . We here Â report the first Hungarian case in a four generation pedigree with EBS-MP symptoms and prove the diagnosis by mutation analysis . A Â heterozygous p .Pro 25 Leu mutation in the first exon of KRT 5 , together with the heterozygous polymorphism p .Gly 138 Glu , was identified in all the five affected family members studied . Our report extends the limited number of EBS-MP cases and gives further evidence that KRT 5 mutations are responsible for this rare phenotype .

Diseases
Validation

Diseases presenting "first exon" symptom

aromatase deficiency

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

hydrocephalus with stenosis of the aqueduct of sylvius

oligodontia

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