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Recently Identified Forms of Epidermolysis Bullosa
#MMPMID26719633
McGrath JA
Ann Dermatol
2015[Dec]; 27
(6
): 658-66
PMID26719633
show ga
Epidermolysis bullosa (EB) comprises a collection of clinically diverse inherited
blistering diseases that affect the skin and, in some subtypes, mucous membranes
and other organs. Currently classified into four main subtypes (EB simplex,
junctional EB, dystrophic EB, and Kindler syndrome, mainly based on the level of
skin cleavage), the spectrum of EB extends to more than 30 clinical subtypes with
pathogenic mutations in at least 18 distinct genes. This review focuses on three
recent additions to variants of EB: all are autosomal recessive, and result from
mutations in either DST-e (coding for epidermal dystonin, also known as the 230
kDa bullous pemphigoid antigen, BP230), EXPH5 (coding for exophilin-5, also known
as Slac2-b), or ITGA3 (coding for the integrin alpha-3 subunit). Each of these
new forms of EB is reviewed with respect to the initial gene discovery, clinical
features, the current mutation database, and skin pathology. Awareness of these
recently described forms of EB is helpful in the clinical evaluation of patients
with EB and in defining genotype-phenotype correlation for inherited blistering
skin diseases.
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