Publication:
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review

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URI: https://hdl.handle.net/10016/18916
ISSN: 0736-8046
DOI: 10.1111/j.1525-1470.2012.01748.x
UXXI: AR/0000012145
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epidermolysis_PD_2013_ps.pdf (2 MB)
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2013-11
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Wiley Periodicals Inc
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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.
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Keywords
Pigmentation Disorders, Epidermolysis Bullosa Simplex, Pigmentation Disorders
Bibliographic citation
Pediatric dermatology, Vol. 30, nº 6 (Nov./Dec. 2013), pp. 125-131
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DBIAB - TERMEG - Journal Articles