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Dermatology
Epidermolysis Bullosa
Built from Dermatology, 5th Edition
What’s inside
9 sections · 114 slides
Overview and Classification
What epidermolysis bullosa is, and how its four major types are told apart
- What this chapter covers
- Key features of EB
- What the name means
- Structural proteins and the skin layers
- The four major types of EB
- Ultrastructural site of splitting, from shallow to deep
- Classic EB subtypes: simplex, junctional, dystrophic, Kindler
- History of EB: early descriptions
- History: registries and gene discovery
- How common is EB
Pathogenesis
How different gene faults create four distinct patterns of skin fragility
- Ultrastructure of blister formation: simplex, junctional, dystrophic EB
- Ultrastructure of blister formation in self-improving dystrophic EB
- EB simplex: keratin gene mutations
- EB simplex: genotype-phenotype links
- EB simplex: rarer recessive forms
- Junctional EB: laminin 332 mutations
- Junctional EB: milder and other forms
- Dystrophic EB: type VII collagen mutations
- Recessive dystrophic EB
- What makes dystrophic EB worse or milder
- Self-improving dystrophic EB
- Why skin cancer risk develops
Clinical Features: the Skin
How fragility, blistering, and scarring look and differ across the major EB types
- Findings shared by all forms of EB
- Localized EB simplex
- Focal keratoderma in EB simplex
- Intermediate EB simplex
- Severe EB simplex: grouped blisters
- Severe EB simplex: another example
- Severe EB simplex: palmoplantar keratoderma
- Scarring, milia, and nail loss get more common down this list
- Scarring, milia, and nail loss by EB type
- Clinical clues that point to a specific EB subtype
- Cutaneous clues and the EB subtypes they suggest
- Severe junctional EB
- Dystrophic EB pruriginosa
- Dominant dystrophic EB: nail loss and scarring
- Dominant dystrophic EB: the fingers
- Where disease activity concentrates
- Severe recessive dystrophic EB: chronic wounds and mitten deformity
- Recessive dystrophic EB: progressive toe fusion
Extracutaneous Complications
How EB can affect the eyes, mouth, gut, airway, bones, kidneys, and heart
- Why EB can affect organs beyond the skin
- Organs beyond the skin that EB can affect
- Eye involvement
- Oral and dental findings
- Airway and gastrointestinal involvement
- Genitourinary and kidney involvement
- Extracutaneous complications by frequency and subtype
- Major extracutaneous complications of epidermolysis bullosa (EB)
- Major extracutaneous complications of epidermolysis bullosa (EB) (continued)
- Major extracutaneous complications of epidermolysis bullosa (EB) (continued)
- Musculoskeletal findings
- Heart and blood findings
Cutaneous Malignancies
Why chronic wounds in EB carry a rising risk of skin cancer
- Squamous cell carcinoma in EB
- SCC outcomes are poor once it develops
- Cumulative SCC risk in severe RDEB, by age
- Squamous cell carcinoma on the ankle
- Melanoma and large pigmented nevi
- A large EB nevus
Approach to Diagnosis
How EB is confirmed and told apart from its clinical mimics
- How EB is diagnosed and classified
- The three main diagnostic tests
- Diagnostic pathway for EB
- Laboratory diagnosis pathway for epidermolysis bullosa
- Telling EB apart from its mimics
- EB mimics: peeling skin syndrome, ectodermal dysplasia, and SAVI
- Skin fragility-ectodermal dysplasia syndrome
- Genodermatoses that mimic EB
- Additional genodermatoses associated with skin fragility or blisters in the differential diagnosis of EB
- Additional genodermatoses associated with skin fragility or blisters in the differential diagnosis of EB (continued)
- Additional genodermatoses associated with skin fragility or blisters in the differential diagnosis of EB (continued)
- Additional genodermatoses associated with skin fragility or blisters in the differential diagnosis of EB (continued)
- Other conditions in the differential diagnosis
Treatment
Day-to-day wound care, drug options, and emerging cell- and gene-based therapies
- Everyday management principles
- Choosing wound dressings
- Dressing types at a glance
- Dressings frequently used in patients with epidermolysis bullosa (EB)
- Drug treatments used in EB
- New topical approaches under study
- Cell-based therapies
- Gene therapy: ex vivo skin grafts
- Gene therapy: direct topical delivery
- Revertant mosaicism: the body's own gene therapy
- Emerging translational therapy approaches for EB
- Long-term, multidisciplinary care
- Managing long-term complications, system by system
- Management of long-term complications of epidermolysis bullosa (EB)
- Management of long-term complications of epidermolysis bullosa (EB) (continued)
- Management of long-term complications of epidermolysis bullosa (EB) (continued)
- Management of long-term complications of epidermolysis bullosa (EB) (continued)
- Management of long-term complications of epidermolysis bullosa (EB) (continued)
- Management of long-term complications of epidermolysis bullosa (EB) (continued)
- Management of long-term complications of epidermolysis bullosa (EB) (continued)
Kindler Epidermolysis Bullosa
A rare EB type combining early blistering with lifelong photosensitivity and poikiloderma
- What is Kindler EB
- History of Kindler EB
- What causes Kindler EB
- Kindler EB: early-life features
- Kindler EB: features in adults
- Kindler EB: poikiloderma, atrophy, and toe fusion
- Kindler EB: toe fusion and skin wrinkling
- Kindler EB: mucosal and dental findings
- Kindler EB: biopsy findings and mimics
- Kindler EB: treatment
- Key takeaways
References
Works cited in this chapter
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- Dermatology, 5th Edition (2-Volume Set)