Abstract:
: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, P25L, in the nonhelical V1 domain of keratin 5 (KRT5). Here we present a case of EBS-MP with early onset of reticulated hyperpigmentation during infancy due to a rare 1649delG mutation in the V2 domain of KRT5.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Geller L,Kristal L,Morel KDdoi
10.1111/pde.12206subject
Has Abstractpub_date
2013-09-01 00:00:00pages
631-2issue
5eissn
0736-8046issn
1525-1470journal_volume
30pub_type
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