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 type
Inheritance
Major subtype
Protein/gene involved
Level of cleavage
Manifestations
EBS Weber-Cocayne
(i) Onset in late childhood or early adulthood (ii) Blisters on palms and soles
EB simplex (EBS)
Autosomal dominant
EBS Koebner
K5, K14
Intraepidermal
(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 5
Intralamina 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 recessive
JEB 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 integrin
Intraepidermal and/or intralamina densa
(i) Pyloric atresia (ii) Wide variety in severity of blistering (iii) Often fatal at early age
Autosomal dominant
Dominant DEB
(i) Onset at birth or in early childhood (ii) Uncommon extracutaneous manifestations (iii) Abnormal nails and atrophic scarring
Dystrophic EB (DEB)
Autosomal recessive
Recessive DEB Hallopeau-Siemens (HS)
Type VII collagen
Sublamina 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
