Epidermolysis bullosa



Epidermolysis bullosa. Bullae, erosions, and scarring of the hands


Group of inherited disorders characterized by blister formation in response to mechanical trauma


Epidermolysis bullosa simplex: associated with mutations of the genes coding for keratins 5 and 14; level of skin separation at the mid basal cell associated with variable intermediate filament clumping Junctional epidermolysis bullosa: mutations in genes coding for laminin 5 subu-

nits (03 chain, laminin P3 chain, laminin 72 chain), collagen XVII (BP180), a6 integrin, and P4 integrin

Dystrophic epidermolysis bullosa: mutations of the gene coding for type VII collagen (COL7A1); anchoring fibrils affected; degree of involvement ranging from subtle changes to complete absence

Clinical manifestation

Epidermolysis bullosa simplex:

• Weber-Cockayne variant: most common form; blisters usually precipitated by traumatic event; most frequently occurring on the palms and soles, often with hyperhidro-sis

• Severe variant: generalized onset of blisters occurring at or shortly after birth; hands, feet, and extremities most common sites of involvement

• Koebner variant: sometimes has palmo-plantar hyperkeratosis and erosions

• Dowling-Meara variant: involves oral mucosa with grouped herpetiform blisters. Junctional epidermolysis bullosa:

• Letalis (Herlitz) variant: generalized blistering at birth; orificial erosions around the mouth, eyes, and nares; often accompanied by significant hypertrophic granulation tissue; involvement of the corneal, conjuncti-val, tracheobronchial, oral, pharyngeal, esophageal, rectal, and genitourinary mucosal surfaces; internal complications: hoarse cry, cough, and other respiratory difficulties; poor prognosis

• Nonlethal junctional variant (mitis form): usually survives infancy; generalized blistering; improves with age; scalp, nail, and tooth abnormalities; periorificial erosions and hypertrophic granulation tissue; mucous membranes erosions, resulting in strictures.

Dystrophic epidermolysis bullosa:

• Dominantly inherited variant; onset of disease usually at birth or during infancy; generalized blistering is common presentation; evolution to localized blistering with age

Epidermolysis bullosa acquisita 213

• Cockayne-Touraine variant: acral distribution and minimal oral or tooth involvement

• Pasini variant: more extensive blistering, scarlike papules on the trunk (albopapu-loid lesions); involvement of the oral mucosa and teeth; dystrophic or absent nails common

• Mitis variant: involves acral areas and nails with little mucosal involvement; clinical manifestations similar to the domi-nantly inherited forms

• Severe recessive variant (Hallopeau-Sie-mens): generalized blistering at birth; subsequent extensive dystrophic scarring, most prominent on the acral surfaces, sometimes resulting in pseudosyndactyly (mitten-hand deformity) of the hands and feet; flexion contractures of the extremities increasingly common with age; dystrophy of nails and teeth; involvement of internal mucosa sometimes resulting in esophageal strictures and webs, urethral and anal stenosis, phimosis, and corneal scarring; intestinal malabsorption leading to a mixed anemia resulting from a lack of iron absorption and failure to thrive; significant risk of developing aggressive squamous cell carcinomas in areas of chronic erosions

Differential diagnosis

Linear IgA bullous disease; bullous pemphigoid; epidermolysis bullosa acquisita; friction blisters; pemphigus vulgaris; burn


Avoidance of frictional trauma*; careful attention to skin and dental hygiene*; severe disease: soft diet to prevent esopha-geal trauma and blistering; skin equivalent dressings to promote epithelialization


Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, et al. (2000) Revised classification system for inherited epidermoly-sis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. Journal of the American Academy of Dermatology 42(6):1051-1066

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