Epidermolysis bullosa simplex with muscular dystrophy.
Epidermolysis bullosa simplex (EBS) is an inherited skin disorder characterized by separation of the epidermis from the underlying dermis, with the cleavage plane lying within the basal-cell layer of the epithelium. The major clinical subtypes of EBS have a dominant inheritance and have been associated with genetic defects in specific domains of keratins K5 and K14 that result in abnormal organization of the keratin network and cell disruption. Autosomal recessive forms of EBS associated with extracutaneous manifestations, such as muscular dystrophy (MIM 226670) or pyloric atresia (MIM 612138), have been linked to genetic mutations in the gene for plectin (PLEC). PLEC mutations have also been found in 2 families with the rare dominant Ogna form of EBS. This article reviews current knowledge on EBS.
Chiavérini
C
C
French Reference Center of Hereditary Epidermolysis Bullosa, Nice, France. Chiaverini.c@chu-nice.fr
Charlesworth
A
A
Meneguzzi
G
G
Lacour
J P
JP
Ortonne
J P
JP
D001483:Base Sequence; D016110:Epidermolysis Bullosa Simplex / Q000150:complications* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D051190:Plectin / Q000235:genetics*; D011708:Pylorus / Q000002:abnormalities
C495332:PLEC protein, human; D051190:Plectin