A case of a patient with severe epidermolysis bullosa surviving to adulthood

Figures & data

Table 1 Classification of EB

Inheritance type	Variant
Autosomal dominant dystrophic EB	• Generalized (Pasini; Cockayne–Touraine)
	• Acryl
	• Precise
	• Pruriginous
	• Isolated involvement of the nail
	• Bullous dermatosis in newborns
Autosomal recessive dystrophic EB	• Generalized severe (Hallopeau-Siemens)
	• Generalized (not Hallopeau-Siemens)
	• Acryl
	• Inverse
	• Precise
	• Pruriginous
	• Centripetally
	• Bullous dermatosis in newborns

Abbreviation: EB, epidermolysis bullosa.

Table 2 Differential diagnosis of EB

Hereditary or congenital diseases	Pigment incontinence syndrome (Bloch-Sulzberger)	Inflammatory bubbles; development of hyperpigmentation and hyperkeratosis in their place.
	Ichthyosiform bullous erythroderma (bullous ichthyosis, epidermolytic hyperkeratosis)	Hyperkeratosis; increased with age; “colloidal fetus”; concentric arrangement of horn combs on extensor surfaces of joints.
	Epidemic pemphigus in newborns	Inflammatory bubbles caused by staphylococcus; acute onset with fever.
	Bullous ichthyosis of Siemens	The formation of vesicles with characteristic flaking mainly on the flexor surfaces.
	Toxic epidermal necrolysis	Often occurs when medication is accompanied by fever; positive Nikolsky’s sign.
	Congenital porphyria	Photosensitivity; increase in type I porphyrins hemolysis.
	Enteropeptidase acrodermatitis	Secondary zinc deficiency; vesicular rash mainly around the orifices; alopecia; diarrhea.
Acquired diseases	Benign familial pemphigus (Hailey–Hailey disease)	Vesicles more often in the natural folds.
	Scarring pemphigoid	Recurrent blistering rash on the mucous membranes (usually the mouth); a long time needed for formation of scars.
	Subcause pemphigoid	Tense tight bubbles with no signs of acantholysis; not provoked.
	Benign bullous pemphigoid	By injury; often affects the elderly; negative Nikolsky’s sign.
	True pemphigus	Flabby vesicles; positive Nikolsky’s sign; not present at birth or infancy. Bullosa with red blistering skin, called staphylococcal scalded skin syndrome.
	Ritter disease	Staphylococcus etiology; vesicle intense; inflammatory basis.
	Bullous impetigo	Polymorphism rashes; intense itching; indirect confirmation of the diagnosis – eosinophilia in the bubbles and blood.
	Dermatitis herpetiformis	Autoimmune disease; late onset.
	Acquired epidermolysis bullosa	Chronic subepidermal blistering; has classic and inflammatory form.

Abbreviation: EB, epidermolysis bullosa.

Table 3 Summary of important recommendations in the guidelines for EB pain assessment

Acute pain	Wound pain	Bathing and dressing change pain
1. Basic perioperative assessment: treatments should be used as for others (Grade: A) 2. Transmucosal assessment: should be considered when intravenous and enteral routes are unavailable (Grade: B) 3. Perioperative opioid: with appropriate dose increase take tolerance into consideration (Grade: B) 4. Regional anesthesia: for major surgeries (Grade: C)	1. Optimal nutrition and mobility. Treat complications like infections (Grade: D) 2. Topical therapies for pain (Grade: C) 3. Systemic treatment for acute and chronic pain (Grade: B) 4. Management of chronic medications (Grade: C)	1. Anxiolytics and analgesics for procedural pain and fear (Grade: B) 2. Cognitive behavioral techniques should be implemented (Grade: B) 3. Environmental comfort measures, such as adding salt to the water (Grade: B)

Abbreviation: EB, epidermolysis bullosa.

Table 4 Complications associated with EB and their management

Pruritus	A common complication; treated with antihistamine; recalcitrant pruritus is treated with steroids.
Gastrointestinal strictures	Mainly in the esophagus; treated with surgery.
Failure to thrive in infants	Treated with high calorie formulas and nutritional supplements.
Deformities of feet and hands	Due to contractures and scarring causing equinus and cavus deformities.
Squamous cell carcinoma	Most commonly in recessive EB; often invasive and metastasizes; no clear treatment approach.

Abbreviation: EB, epidermolysis bullosa.

Figure 1 Appearance of lesions on the patient’s back on presentation.

Figure 2 Appearance of lesions on the patient’s chest and abdomen on presentation.

Figure 3 Appearance of lesions on the patient’s chest and abdomen on presentation.

Figure 4 Appearance of deformities on the patient’s hands on presentation.

Figure 5 Appearance of lesions on the patient’s elbow on presentation.

Figure 6 Appearance of lesions on the patient’s lateral abdomen on presentation.

Figure 7 Result of the patient’s skin biopsy showing fixation of IgG in the basement membrane of the epidermis, on the roof the subepidermal blisters, with minor migration in the intercellular space of the epidermis and moderate in the papillary layer of the dermis.

Figure 8 Result of the patient’s skin biopsy showing fixation in the basal membrane of the epidermis, and slightly in the dermis, with permeation of some keratinocytes of the C3 component of complement.

Figure 9 Appearance of lesions on the patients chest and abdomen on day 1 after discharge.

Figure 10 Appearance of lesions on the patients axilla on day 1 after discharge.