- PEDIATRIC DERMATOLOGY Journal
- November 2013
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- Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families each with several affected members with EBS-MP and review the clinical and genetic findings in all reported patients. We highlight the changing clinical features of the disease throughout life.
- hyper-pigmentation; kindler syndrome; japanese family; p25l mutation; krt5 gene; keratin-5; confirmation; phenotype; domain