Publication: Epidermolysis bullosa simplex with mottled pigmentation: a family report and review
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Publication date
2013-11
Defense date
Advisors
Tutors
Journal Title
Journal ISSN
Volume Title
Publisher
Wiley Periodicals Inc
Abstract
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.
Description
Keywords
Pigmentation Disorders, Epidermolysis Bullosa Simplex, Pigmentation Disorders
Bibliographic citation
Pediatric dermatology, Vol. 30, nº 6 (Nov./Dec. 2013), pp. 125-131