Genetic abnormalities and clinical classification of epidermolysis bullosa.

Abstract:

:Genetic abnormalities for different subtypes of epidermolysis bullosa (EB) have been described. In dominant simplex type EB, mutations of the K5 or K14 gene lead to disruption of basal cells and the formation of bullae. The recessive simplex types include EB with muscular dystrophy due to abnormal plectin, EB without muscular dystrophy in patients homozygous for K14 gene abnormalities, and skin fragility syndrome, with formation of acantholytic vesicles within the epidermis due to PKP1 gene mutations. In junctional EB, mutations of the laminin 5, type XVII collagen, and alpha 6 beta 4 integrin genes have been reported. Dystrophic type EB is associated with various abnormalities of the type VII collagen gene. A new classification of EB based on these genetic abnormalities has been proposed. However, some concern has been voiced regarding the clinical utility of a classification based solely on genetic abnormalities. Although the reasons are unclear, identical genetic abnormalities have been known to be associated with different clinical features. A classification including a component based on clinical features would therefore be preferable. This article describes recently discovered genetic abnormalities and offers a new classification scheme for EB.

journal_name

Arch Dermatol Res

authors

Mitsuhashi Y,Hashimoto I

doi

10.1007/s00403-002-0369-0

keywords:

subject

Has Abstract

pub_date

2003-04-01 00:00:00

pages

S29-33

eissn

0340-3696

issn

1432-069X

journal_volume

295 Suppl 1

pub_type

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