Skill Checkup: A Student With an Inherited Blistering Condition and Painful Bullae on His Feet

William D. James, MD

Disclosures

April 12, 2021

Most patients with EB demonstrate podiatric manifestations, including blistering, hyperkeratosis, flat feet, nail dystrophy, or foot positioning difficulties due to structural problems. Specialized foot care is an essential part of management of this condition.

On the basis of the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International guidelines published in the British Journal of Dermatology, there is evidence that foot care interventions practiced by podiatrists lead to positive outcomes in EB patients. Podiatrists are expected to manage foot blistering and wounds, which very commonly appear in the feet of all EB patients either in response to trauma or spontaneously. Clinical practice recommendations for pediatric therapy and support for EB patients and caregivers include:

  1. Effective blistering and wound management and patient education to prevent occurrence.

  2. Fluid-filled blisters can be drained using sterile techniques by the patient or a trained healthcare professional. Medicated dressings and/or topical antiseptics, topical antibiotics, are used to protect and prevent secondary infections.

  3. Topical keratolytics to treat nail dystrophy and hyperkeratosis, in addition to trimming, reducing, or removing nails.

  4. Hyperkeratosis (callus) management, including assessment of weight distribution and appropriate foot cushioning.

  5. Patients should be advised on the use of footwear, cushioning, and orthotics.

  6. Mobility should be maintained and adapted to the patient's need depending on EB subtype and severity.

  7. Pseudosyndactyly and contractures are features of severe generalized recessive EB. Support for these patients includes advice on preventive measures in addition to assessment of functional impairment and referral for surgical correction, plus management postoperatively to prevent recurrence and promote mobility.

Esophageal and gastrointestinal mucosal erosions and ulcers occur in some subtypes of EB. Esophageal strictures are common manifestations in some severe cases of DEB and KEB. This patient, however, does not complain of dysphagia or epigastric pain, or have any past or current symptoms to suggest the need for esophagogastroduodenoscopy.

The diagnosis of EB can be confirmed by skin biopsy analysis using immunofluorescence mapping and transmission electron microscopy. Genetic testing confirms the diagnosis of EB subtype. It can be done after immunofluorescence microscopy is performed in order to narrow the number of genes to screen. Initial mutation screening is done by restriction fragment-length polymorphism analysis and hotspot analysis. This is followed by direct DNA sequencing. The patient already had confirmation of his condition.

Skin biopsy can be used to perform electron microscopy and immunofluorescence mapping analysis prior to DNA genetic testing for confirmation and/or counseling. Immunofluorescence microscopy provides information about the level of skin cleavage and the underlying molecular defect. Electron microscopy allows for the identification and quantitative detection of structures present in the layers of the skin, such as keratin filaments, desmosomes, hemidesmosomes, anchoring filaments, and anchoring fibrils, which provides clues to structural changes related to EB subtypes.

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