Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy.

[epidermolysis bullosa simplex]

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP ) is an autosomal dominant inherited blistering skin disease characterized by nonscarring blistering and reticulated hyperpigmentation . It is most commonly due to a heterozygous point mutation , P 25 L , in the nonhelical V 1 domain of keratin 5 (KRT 5 ). Here we present a case of EBS-MP with early onset of reticulated hyperpigmentation during infancy due to a rare 1649 delG mutation in the V 2 domain of KRT 5 .

Diseases
Validation

Diseases presenting "early onset" symptom

22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

coats disease

cohen syndrome

congenital diaphragmatic hernia

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erythropoietic protoporphyria

fabry disease

familial mediterranean fever

homocystinuria without methylmalonic aciduria

inclusion body myositis

kindler syndrome

krabbe disease

papillon-lefèvre syndrome

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

triple a syndrome

von hippel-lindau disease

werner syndrome

wolf-hirschhorn syndrome

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