introduction - dermpathmd.comdermpathmd.com/clinical dermatology/epidermolysis bullosa.pdf ·...
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Introduction EB encompasses many clinically distinctive
disorders with 3 features in common
Genetic transmission
Blister formation
Mechanical fragility of the skin
3 major forms of inherited EB
Simplex
Junctional
Dystrophic
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History First described by von Hebra in 1870
Simplex and dystrophic separated by Hallopeau in 1898
Junctional EB described by Herlitz in 1935
National EB Registry established in 1986
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Epidemiology Prevalence estimate in 1990 was 8.22 per million
5 year incidence estimates: 19.6 per one million live births
EB simplex is most common
Recessive dystrophic EB is least common
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Pathogenesis Mutations of structural proteins of the epidermis EBS Intraepidermal tonofilaments- K5, 14
Junctional EB Intralamina lucida- anchoring filaments and
hemidesmosome, laminin 5, BP Ag 2, α6 β4 integrin
Dystrophic EB Sublamina densa- anchoring fibrils, collagen VII
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EB Simplex Intraepidermal split
Keratins 5 and 14 (basal layer)
11 subtypes known, but 4 main AD inherited
4 subtypes Weber- Cockayne
Koebner
Dowling- Meara
EBS with mottled pigmentation
Rare subtype of EBS with muscular dystrophy-defect in plectin
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EBS- Weber- Cockayne Localized recurrent bullous eruption on hands and
feet
Can appear as chronic form in infancy or later in life
Exacerbated in hot weather or with prolonged walking- i.e. military
May have hyperhidrosis
Intraepidermal and suprabasal- no scarring
Tx: Drysol bid can reduce blistering; treat infection
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EBS- Weber- Cockayne
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EBS- Weber- Cockayne
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EBS- Koebner Generalized form
1/ 500,000 births
Vesicles, bullae, and milia over hands, elbows, knees, feet
Birth or soon after
Recurs when child begins to crawl or walk
Worse in the summer
Lesions are sparse with no severe atrophy
Usually no mucous membrane or nail involvement
Tx: treat local infection, avoid trauma
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EBS- Koebner
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EB Herpetiformis- Dowling- Meara Circinate configuration in infancy
May have milia, but no scarring
Oral mucosa is involved
Nails shed and can regrow
Blistering improves with age
May have hyperkeratosis of palms and soles after 6- 7 y.o.
Clumped tonofilaments on EM
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Dowling- Meara
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Dowling- Meara
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Dowling- Meara
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EBS with mottled pigmentation One Swedish family
Scattered hyper- and hypopigmented macules
Mottled pigmentation fades after birth
Seasonal blisters in acral areas
Vacuolization of the basal layer
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EBS with muscular dystrophy Autosomal recessive
Widespread blisters at birth
Absent plectin in skin and muscles
Scarring, milia, atrophy, nail dystrophy, dental anomalies, laryngeal webs, urethral strictures
Muscular dystrophy begins in childhood or later
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EBS Ogna Generalized bruising and hemorrhagic blisters
Autosomal dominant
Small, acral, sanguinous blisters at birth
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Junctional EB Autosomal recessive
Intralamina lucida split
3 subtypes
Herlitz (JEB gravis)- laminin 5
Non-Herlitz (generalized atrophic benign)- laminin 5 or BP Ag 2
JEB with pyloric atresia- α6 β4 integrin
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Junctional EB- Herlitz Severe generalized blistering
May be present at birth
May be fatal within a few months due to extensive denudation
Relative sparing of hands
Perioral and perinasal hypertrophic granulation tissue
No scarring or milia
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Junctional EB- Herlitz Enamel hypoplasia and pitting of teeth
Laryngeal and bronchial lesions can cause respiratory distress and potentially be fatal
Can affect GI tract, gallbladder, cornea, vagina
After infancy- growth retardation, refractory anemia
Mutations in polypeptide subunits of laminin 5 LAMA3
LAMB3
LAMC2
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Junctional EB- Herlitz Wound care and infection control
May use epidermal autografts of cultured keratinocytes of uninvolved skin grown on collagen sponges
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Junctional EB- Herlitz
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Junctional EB- Herlitz
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Junctional EB- Herlitz
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Junctional EB- non-Herlitz (generalized atrophic benign) Onset at birth
Generalized blisters and atrophy
Mucosal involvement
Dystrophic or absent nails
Atrophic alopecia
Enamel defects
Reports of multiple SCCs
Patients often survive to adulthood
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Junctional EB- non-Herlitz (generalized atrophic benign) Hemidesmosomes reduced or absent
Mutations in COL17A1- encoding for BP Ag 2
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Junctional EB with Pyloric Atresia Presents at birth
Severe mucocutaneous fragility
Gastric outlet obstruction
If they survive neonatal period, blistering will improve
Scarring of urinary tract can occur
Mutation in α6 or β4 integrin
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Cicatricial Junctional EB Described in 1985 by Haber et al
Blisters heal with scarring, which leads to syndactyly and contractures
Stenosis of anterior nares
Rudimentary hemidesmosomes
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Junctional EB
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Dystrophic EB Autosomal dominant or recessive
Mutations in COL7A1 encoding for collagen VII
Subepidermal blistering that heals with scarring
Anchoring fibrils deficient or defective
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Dominant Dystrophic EB Vesicles and bullae on extensor surfaces of extremities
Most pronounced over toes, fingers, knuckles, ankles, elbows
Flesh-colored scarlike areas (albopapuloid) occur on trunk, often in adolescence
Nikolsky sign is present
Healing with scarring and atrophy
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Dominant Dystrophic EB Milia on rims of ears, dorsal hands, extensor arms and
legs
Mucous membranes involved
Laryngeal involvement can manifest as persistent hoarseness
Dysphagia from pharyngeal scarring
Scarring of the tip of the tongue
Normal teeth
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Dominant Dystrophic EB Nail dystrophy
Partial alopecia of scalp
No body hair
Dwarfism
Contractures and claw-like hands
Atrophy of phalangeal bones and pseudosyndactyly
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Dominant Dystrophic EB Albopapuloid (Pasini) is more severe form
Cockayne- Touraine is more limited and no albopapuloid lesions are seen
Non-inflammatory supepidermal bulla on path
EM- cleavage beneath the basal lamina, reduced and rudimentary anchoring fibrils
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Dominant Dystrophic EB Skin grafts and allogenic cultured keratinocytes can be
used in treating non-healing skin defects
Blistering will decrease with time
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Dominant Dystrophic EB
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Dominant Dystrophic EB
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Dominant Dystrophic EB
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Bart’s Syndrome Autosomal Dominant
Mechanoblisters
Congenital localized absence of skin on lower extremities
Renal aplasia
Mandibulofacial dysostosis
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Recessive Dystrophic EB Mutations in gene encoding type VII collagen
(COL7A1)
3 variants
Generalized
Mild or mitis
Severe (Hallopeau- Siemens)
Localized
Inverse
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Recessive Dystrophic EB- mild/ mitis Blisters primarily on hands, feet, elbows, knees
Limited complications
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Recessive Dystrophic EB- Hallopeau-Siemens Generalized cutaneous and mucosal blistering at
birth
Encasement of fingers and toes in scar tissue-mitten deformity 90% by age 25
Microstomia and many dental caries
May have esophageal stricture
Anemia and growth retardation are possible
Nutritional deficiency can lead to a fatal cardiomyopathy (selenium deficiency)
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Recessive Dystrophic EB- Hallopeau-Siemens Fatal systemic amyloidosis (AA) has been reported
Risk of melanoma 1.5% by age 12
High risk of SCCs 22% by age 25, 50% by age 35, 77% by age 60
Often metastasize
Unresponsive to chemotherapy and radiation
Leading cause of death at or after mid- adolescence
Most patients die within in 5 years after dx of SCC
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Recessive Dystrophic EB- Hallopeau-Siemens Educate family and refer to DEBRA (Dystrophic
Epidermolysis Bullosa Research Association of America)
Treatment is mainly palliative
Aggressive dental intervention
Nutritional support
Skin grafts
Cultured keratinocytes
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Recessive Dystrophic EB- Hallopeau-Siemens
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Recessive Dystrophic EB- Hallopeau-Siemens
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Recessive Dystrophic EB- Hallopeau-Siemens
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Recessive Dystrophic EB- Hallopeau-Siemens
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Approach to the Patient History and physical exam
Skin biopsies for IF, EM Rubbing skin with an eraser can lead to a subclinical lesion that
demonstrates the split histologically
Immunofluorescent mapping EBS- BP Ag, laminin, type IV collagen all at base
Dystrophic EB- BP Ag, laminin, type IV collagen all at roof
Junctional EB- BP Ag on roof, type IV collagen at base
Gene mutation analysis if needed
Genetic counseling Amniocentesis and chorionic villus sampling available
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Treatment Supportive skin care
Maintain cool environment
Avoid trauma
Avoid and treat infection
Biologic dressings
Autologous and allogenic skin grafts
Surgical intervention for contractures and SCCs
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Treatment Tissue engineered skin equivalents
Missing or defective protein produced by recombinant methods and applied directly to blistered skin
Gene therapy?
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Treatment Extracutaneous involvement
Pediatric dentist
Nutritional supplementation
Treat anemia
GI, GU, ophtho specialists as indicated
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Epidermolysis Bullosa Acquisita Criteria proposed in 1971
Clinical lesions of dystrophic EB- skin fragility, trauma-induced blistering, atrophic scarring, milia, nail dystrophy
Adult onset
Lack of family h/o EB
Exclusion of other bullous disease
IgG at basement membrane by DIF
IgG beneath basal lamina
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Epidermolysis Bullosa Acquisita Criteria have since been expanded
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Epidermolysis Bullosa Acquisita Acquired EB with autoimmunity to collagen VII
(component of anchoring fibrils)
Can be similar to DEB, BP, or CP
Can be in children or adults
Very rare- 0.25 per million
In some patients, autoantibodies to NC1 domain of collagen VII in the lamina densa
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Epidermolysis Bullosa Acquisita Blisters in areas prone to trauma Heal with atrophic scarring and milia Can have mitten deformityMM involvement variable Associated with: IBD, SLE, RA, thyroiditis, DM,
myeloma, lymphoma, leukemia, amyloidosis DIF: IgG on dermal side of salt split skin Treat with immunosuppressants such as
cyclosporine; extracorporeal photochemotherapy has shown benefit
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Epidermolysis Bullosa Acquisita
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Epidermolysis Bullosa Acquisita
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Epidermolysis Bullosa Acquisita
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EBA Salt-split Skin- IgG stains the floor