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Epidermolysis Bullosa Simplex with Mottled Pigmentation: A Family Report and Review
Author(s) -
EcheverríaGarcía Begoña,
Vicente Asunción,
Hernández Ángela,
Mascaró Jose M.,
Colmenero Isabel,
Terrón Ana,
Escámez María J.,
del Río Marcela,
GonzálezEnseñat Maria A.,
Torrelo Antonio
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2012.01748.x
Subject(s) - epidermolysis bullosa simplex , medicine , epidermolysis bullosa , dermatology , hyperpigmentation , disease , pathology
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.