Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.
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.
Department of Dermatology, Hospital Infantil Universitario Niño Jesus, Madrid, SpainDermatology Service, Hospital San Juan de Dios, BarcelonaDepartment of Dermatology, Hospital Clínico, Barcelona, SpainEast of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UKRegenerative Medicine Unit, Epithelial Biomedicine Division, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) MadridDepartment of Bioengineering, Universidad Carlos III, Madrid, Spain.
Begoña
B
Echeverría-García
Asunción
A
Vicente
Ángela
Á
Hernández
Jose M
JM
Mascaró
Isabel
I
Colmenero
Ana
A
Terrón
María J
MJ
Escámez
Marcela
M
del Río
Maria A
MA
González-Enseñat
Antonio
A
Torrelo
D000328:Adult; D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics* / Q000473:pathology*; D007223:Infant; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012867:Skin / Q000473:pathology
C503940:KRT5 protein, human; D053555:Keratin-5