There are a number of bullous diseases other than pemphigus and bullous pemphigoid that are important to recognize. Epidermolysis bullosa belongs to a family of inherited diseases where blister formation can be caused by even minor skin trauma. PLEVA (pityriasis lichenoides et varioliformis acuta) is a minor cutaneous lymphoid dyscrasia that can appear suddenly and persist for weeks to months. Dermatitis herpetiformis is a recurrent eruption that is usually associated with gluten and diet-related enteropathies. These diseases will be discussed in succession.
A 12-year-old girl with the Dowling-Meara type of epidermolysis bullosa (EB) simplex presents to her pediatrician for a URI. While examining her respiratory tract, the pediatrician notes the extensive, severe blistering over many areas of the body including, the (A) trunk, (B) extremities, and (C) the hands (Figure 157-1). She has been followed by a dermatologist since early childhood when the EB simplex was first diagnosed. It turns out that she only has a viral URI so no antibiotics are needed and standard treatment with fluids and analgesics is recommended. Her mom states that the girl has an appointment with her dermatologist next month.
Epidermolysis bullosa (EB) is a family of inherited diseases characterized by skin fragility and blister formation caused by minor skin trauma.1
There are autosomal recessive and autosomal dominant types; the severity of this disease may vary widely.
Onset is in childhood and in later years severe dystrophic deformities of hands and feet are characteristic (Figure 157-2).
FIGURE 157-2
Recessive dystrophic epidermolysis bullosa in an adolescent with a mitten deformity and flexion contractures at the wrists. (Used with permission from Kane KS, Lio PA, Stratigos AJ, Johnson RA. Color Atlas & Synopsis of Pediatric Dermatology, 2nd edition, Figure 5-3b, New York, NY: McGraw-Hill, 2009.)
Blistering occurs at different levels for these 3 types of EB:
Epidermolysis bullosa simplex (Figure 157-1) blisters within the epidermis (most superficial).2,3
Dystrophic epidermolysis bullosa (dominant and recessive) has vesiculobullous skin separation occurring at the sub-basal lamina level of the dermis (deepest layer of all 3 types; Figures 157-2 to 157-4).
Junctional epidermolysis bullosa blisters at the dermal-epidermal junction (Figure 157-5).
FIGURE 157-4
Recessive dystrophic epidermolysis bullosa in a newborn. Bullae occur at areas of minimal trauma at or near birth. (Used with permission from Kane KS, Lio P, Stratigos AJ, Johnson RA. Color Atlas and Synopsis of Pediatric Dermatology, 2nd edition, Figure 5-3a, New York, NY: McGraw-Hill, 2009.)
FIGURE 157-5
Junctional epidermolysis bullosa in a newborn with severe perioral, oral and GI involvement. This infant was subsequently hospitalized and despite burn unit supportive measures eventually passed away because of sepsis. (Used with permission from Kane KS, Lio P, Stratigos AJ, Johnson RA. Color Atlas and Synopsis of Pediatric Dermatology, 2nd edition, Figure 5-2c, New York, NY: McGraw-Hill, 2009.)
Acral skin fragility and blistering are the hallmark in childhood. Minor trauma can induce severe blistering. As the disease progresses initially, painful and ultimately debilitating dystrophic deformities are typical. Repeated blistering of the hands can lead to fusion of the fingers and the “mitten” deformity (Figure 157-2).
The typical distribution is acral (hands and feet), although blistering may extend proximally secondary to trauma.
There are no laboratory tests to confirm the diagnosis. A punch biopsy can provide adequate tissue for the dermatopathologist to differentiate between the different forms of epidermolysis bullosa: simplex, junctional, and dystrophic.
Erythema multiforme bullosum may have a similar appearance, but the distribution is less apt to be limited to the distal extremities.
The first appearance of the condition may be confused, with staphylococcal scalded skin syndrome (see Chapter 105, Staphylococcal Scalded Skin Syndrome).4
Management is primarily prevention of trauma, careful wound care, and treatment of complicating infections. Other supportive measures such as pain management and nutritional support are often necessary. Screening the skin for squamous cell carcinoma is important in adulthood for the dystrophic form.2
Periodic skin examinations should be done to help manage symptoms and screen for malignancy.
Avoid trauma and come in early if there are any signs of infection or malignancy.
