title: Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case.
abstract: 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.
authors: Department of Dermatovenereology, University Medical Centre Ljubljana, Ljubljana, Slovenia. Corresponding author: aleksandra.bergant@yahoo.com.
authors: Aleksandra
authors: A
authors: Bergant Suhodolčan
authors: Department of Dermatovenereology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
authors: Vlasta
authors: V
authors: Dragoš
mesh_terms: D016110:Epidermolysis Bullosa Simplex / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017524:Slovenia