Case Reports in Medicine / 2014 / Article / Tab 1

Case Report

Dystrophic Epidermolysis Bullosa in Pregnancy: A Case Report of the Autosomal Dominant Subtype and Review of the Literature

Table 1

Classification of common inherited epidermolysis bullosa (EB) phenotypes.

Major typeInheritanceMajor subtypeProtein/gene involvedLevel of cleavageManifestations

EBS Weber-Cocayne (i) Onset in late childhood or early adulthood
(ii) Blisters on palms and soles
EB simplex (EBS)Autosomal dominantEBS Koebner K5, K14Intraepidermal(i) Present at birth
(ii) Worse blistering on extremities
EBS Dowling-Meara (i) Onset in infancy
(ii) Herpetiform grouping of blisters
(iii) Symptoms improving with age
(iv) Infant mortality rate of 2.8% in first year of life
EBS muscular dystrophy Plectin(i) Onset in late childhood
(ii) Generalized blistering and muscle weakness

JEB Herlitz Laminin 5Intralamina densa(i) Present at birth
(ii) Intractable blistering and erosions
(iii) High infant mortality (40% in first year of life and rising to 61.8% by the age of 15)
Junctional EB (JEB)Autosomal recessiveJEB non-Herlitz Laminin 5, type XVII collagen(i) Present at birth
(ii) Milder form of JEB with minimal extracutaneous involvement
(iii) High infant mortality (40% in first year of life and rising to 61.8% by the age of 15)
JEB pyloric atresia Α6β4 integrinIntraepidermal and/or intralamina densa(i) Pyloric atresia
(ii) Wide variety in severity of blistering
(iii) Often fatal at early age

Autosomal dominantDominant DEB (i) Onset at birth or in early childhood
(ii) Uncommon extracutaneous manifestations
(iii) Abnormal nails and atrophic scarring
Dystrophic EB (DEB)Autosomal recessiveRecessive DEB Hallopeau-Siemens  (HS) Type VII collagenSublamina densa(i) Present at birth
(ii) Extensive scarring
(iii) Extracutaneous involvement
(iv) Increasing risk of SCC
(v) 8% mortality risk by the age of 15
Recessive DEB non-Hallopeau-Siemens (i) Present at birth
(ii) Scarring being less severe than in HS type
(iii) Extracutaneous manifestations that may be present

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