[Epidermolysis bullosa simplex Dowling-Meara].
A clinical case of epidermolysis bullosa simplex Dowling-Meara (EBS-DM) is described in a girl from birth to 23 years of age. In the neonatal period the skin symptoms were very severe, with general blister formation and Nikolsky's phenomenon. With time the symptoms improved. After puberty, the main symptoms were palmar and plantar hyperkeratosis and nail hypertrophy, plus occasional blistering. The diagnosis was verified by electron microscopy. The actual case was a new mutation, determined to be KRT-14-R125H. The incidence of EBS-DM in Denmark has been calculated as 1 in 300,000.
Frangu
Mimoza
M
Sygehus Vestsjaelland, Børneafdelingen, Rikshospitalet, Oslo. mimoza.frangu@dadlnet.dk
Gedde-Dahl
Tobias
T
Verder
Henrik
H
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053547:Keratin-14 / Q000235:genetics; D009154:Mutation; D012867:Skin / Q000473:pathology*
D053547:Keratin-14