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 "limited number" symptom

22q11.2 deletion syndrome

achondroplasia

cholangiocarcinoma

congenital diaphragmatic hernia

dedifferentiated liposarcoma

dentinogenesis imperfecta

epidermolysis bullosa simplex

erythropoietic protoporphyria

liposarcoma

neonatal adrenoleukodystrophy

pleomorphic liposarcoma

primary hyperoxaluria type 1

proteus syndrome

trochlear dysplasia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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