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Epidermolysis bullosa simplex with mottled pigmentation is a rare subtype of epidermolysis bullosa simplex that is characterized by nonscarring blistering and reticulated hyperpigmentation. We report the first Slovenian case of a newborn with blisters, who later presented with hyperpigmented macules in the first year of life. A missense p.Pro25Leu mutation in the KRT5 gene was confirmed.

Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case