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Epidermolysis bullosa Flashcards

1
Q

Major types of EB

A
  1. EB simplex - intra-epidermal
  2. Junctional EB- intra-lamina lucida
  3. Dystrophic EB - sublamina densa
  4. Kindler syndrome - mixed
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2
Q

Which is the most common EB

A

EBS

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3
Q

Major target protein in EBS

A

KRT 5 and KRT 14

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4
Q

Major target protein in DEB

A

Type VII collagen

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5
Q

Major target protein in JEB

A

Laminin 322

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6
Q

What are the different distributions of EB

A
  • Inversa subtypes of JEB and RDEB: intertriginous
  • Localized JEB: acral
  • Pretibial DEB: exclusively to shins
  • RDEB centripetalis: rare, features acral blistering followed by slow progression of disease activity toward the trunk over the years
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7
Q

Risk of skin cancers in EB?

A
  • Risk of SCC: well diff in sites of chronic wounds, very difficult to treat and often recur locally, frequently metastasize –> leading cause of death after mid-adolescence
    • Primarily in RDEB
  • Risk of melanoma:
    • cumulative risk of 2.5% by age of 12 years
    • EB naevi: large, irregularly shaped, darkly pigmented melanocytic naevi –> look like melanoma but histologically fine, large sign from onset a good clue
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8
Q

EBS localized - which areas

A

Palmoplantar

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9
Q

What subtypes can have inversa

A

JEB and DEB

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10
Q

Which subtype has reticulated hyperpigmentation

A

EBS with mottle hyperpigmenration

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11
Q

Which organs are involved for extracutaneous manifestation

A 
Ocular
Oral
GIT
GU
Respiratory
Cardiac
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12
Q

Clinical of localized EBS

A

Infancy and third decade of life with trauma or friction induced blistering - palms and soles. Associated palmoplantar hyperhidrosis. Infants can get blistering or ulceration from trauma which resolves with age.
EB Naevi common, variable pigmentation and irregular borders (activation of melanocytes due to tissue damage)
No scarring

Can have localized with nephropathy

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13
Q

EBS localized with nephropathy target protein

A

CD151

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14
Q

EBS intermediate clinical and subtypes

A 
Blistering starts at birth
Mild hands, feet and extremities
Worse in heat
Plantar keratoderma
EB naevi common
Hyperpigmentation, atrophy and milia
Thick or dystrophic nails

Can get with cardiomyopathy, and muscular dystrophy

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15
Q

EBS cardiomyopathy target protein

A

Kelch like member 24

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16
Q

EBS muscular dystrophy target protein

A

Plectin

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17
Q

EBS severe clinical

A 
Generalized, common on hands and feet
Herpetiform pattern of blisters
PPK --> confluent
EB naevi
Atrophic scarring, milia
Nails thick and dystrophic
Hair not affected
Mouth involved
Risk in first year: infection, malnutrition, resp failure
GORD
Growth retardation

Can get with pyloric atresia –> really severe

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18
Q

EBS with mottled pigmentation clinical

A

Generalized skin blistering of intermediate severity
Development of mottled/reticulate pigmentation not related to sites of blistering
Focal keratoses of palms and soles
Dystrophic, thickened nails

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19
Q

Junctional EB intermediate genes

A

LAMA3, LAMB3, LAMC2 etc

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20
Q

Junctional EB intermediate clinical

A 
Generalized blistering from birth, no chronic granulation tissue
Ulcerated skin may be present at birth
Risk of SCC in adulthood
EB naevi
Atrophic scarring, milia formation, dyspigmentation
Oral involvement
Nails dystrophic or lost
Scarring or nonscarring alopecia
Extra-c:
Eyes: corneal blistering, erosions, pannus, scarring
GIT and GU involvement
Anaemia
Growth retardation
Protein-losing enteropathy
Diarrhoea
Dental enamel defects
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21
Q

Severe junctional EB clinical

A

Blistering from birth, may initially be mild then become generalized. Almost all of body surface
Blisters rupture with extensive erosions
Chronic wounds with bed of friable granulation tissue - perioroficial, face, ears, distal digits, gluteal
Areas of ulcerated skin may be present at birth
Atrophic scarring, dyspigmentation
Onychodystrophy
Friable granulation tissue and soft tissue swelling of distal digits
Alopecia
Oral and laryngeal involvement: airway obstruction, etc
Ocular: scarring, etc
GIT: protein losing enteropathy, failure to thrive, anaemia
Dental enamel defects
Death in first 24 months due to FTT, sepsis or airway involvement
Osteoporosis

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22
Q

JEB with pyloric atresia target protein

A

Integrin alpha 6 beta 4

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23
Q

JEB with pyloric atresia linical

A

Gestational hydramnios
Full thickness skin loss
Pyloric atresia
Lethal within first few weeks

24
Q

JEB inversa clinical

A

Flexural blistering
Atrophic scarring, milia, dyspigmentation
Nail involvement
Dental abnormalities

25
JEB with ILD and nephrotic syndrome target protein
Integrin alpha 3 ILD - soon after birth Nephrotic syndrome: early death
26
Target protein for DEB
Type 7 collagen
27
Localized DDEB clinical
Acral and pretibial skin fragility Increased risk SCC EB naevi Progressive nail dystrophy
28
DDEB mutation
COLD7A1
29
Intermediate DDEB clinical
``` Generalized scar fragility, scarring and milia from birth or early childhood Bony prominences: elbows,knees, ankles Risk of SCC May have EB naevi Mucosal involvement Nail dystrophy and loss due to trauma ``` Mucosal: oeosphageal, blistering and fissuring around anal margin Ocular: conjunctival involvement and corneal scarring Nutritional impairment from oesophageal involvement + metabolic demand from wounds Constipation
30
Intermediate RDEB
``` Again bony prominences Mutilating deformities Keratoderma striate pattern SCC EB naevi ``` Mucosal: oeosphageal, blistering and fissuring around anal margin Ocular: conjunctival involvement and corneal scarring Nutritional impairment from oesophageal involvement + metabolic demand from wounds Constipation
31
Severe RDEB clinical
``` Widespread, bony prominences Congenital skin ulcerations High risk of SCC EB naevi Extensive scarring and flexion contractures of large joints --> mitten deformities Distal resorption of digits Oral mucosa: microstomia, dental overcrowding Nail dystrophy and loss Scarring alopecia ``` Oesophgeal: strictures, protein losing enteropathy, anal involvement, corneal, urethral Nutritional impairment Anaemia Osteopenia Renal impairment: 10% risk of death by age 35 --> from outflow obstruction, FN, systemic amyloidosis, IgA nephropathy Cardiomyopathy
32
DDEB, pruriginosa clinical
tarts like localized or intermediate but becomes intensely pruritic - excoirated violaceous papules or linear plaques Milia common Nail dystrophy
33
JEB generalized intermediate target antigen
Type XVII collagen
34
Kindler syndrome target antigen
Kindlin-1
35
What is the recommended diagnosis for EB now
genetic testing + IFM
36
What are the methods for genetic testing
- NGS - Next generation sequence targeting - Relatively rapid and effective - Allows for prenatal diagnosis - Can provide incidental information which may not be wanted - WES - Whole exome sequencing - May identify new variants of EB - Can cause incidental findings - SS - Sanger sequencing - Straightfoward approach if candidate genes are obvious or have been identified by IFM or TEM - Will miss variations in other EB genes - May be more time consuming - Requires pre-selction
37
What is IFM?
Immunofluourescence antigen mapping - recommended to obtain a rapid diagnosis and prognosis, and to prioritize genetic testing - High specificity and sensitivity can be reached at relatively low costs - 4-6 mm punch or shave from an area not exposed to the sun (may create nonspecific background fluorescent, interfering with interpretation). Should include peri-lesional skin as well as a small part of a fresh blister - Can induce a blister before taking the biopsy or after with a suction syringe - Often a blister is created from the trauma alone - Put in Michels medium or liquid nitrogen, and ship ASAP as cell cytolysis can occur after just 48 hours - Then compared to normal human skin - Recommend doing with at least one antibody for each main type of EB, as well as for antibody type 4 collagen - Staining of the type 4 collagen to the floor of the blister is indicative of junctional or intraepidermal blister, whereas staining to the roof defined a dermal blister - If lack of blistering --> do a TEM - If genetic testing indicates something but no blistering --> keratinocytes/fibroblasts for expression and functional studies - Pros: easy, rapid, may indicate protein, prognostic helpful, but may be uninformative, doesn't give a genetic test
38
What is TEM?
Transmission electron microscopy - then cut into small pieces 0.5-1 mm thick, then further processing - Ligh microscopy examination of sections - Allows definition of blister level - Requires someone who knows a lot about it - Can also see clumping of tonofilaments etc which may be seen in EBS - Pros: identified ultrastructural stuff - Cons: uninformative can occur, time consuming, no genetic defect
39
DDx for EB
- pretty minimal ddx for chronic mechanobullous diseases - Acrodermatitis enteropathica - IP stage 1 - Pachyonychia congenita - Early lipoid proteinosis - Acute blistering - Bart syndrome: EB and congenital locazlied absence of skin - Genoderms: - EBS skin fragility syndromes such as Woolly hair - Acantholytic EBS - Acral peeling skin syndrome (transglutaminase 5) - EBS superficialist - Superficial epidermolytic icthysosi - Epidermolytic ichthyosis - Gunther - Mendes da Costa - AEC
40
EB management principles
1. Prevention of mechanical trauma 2. Wound care 1. Soft silicone dressings are wildly used 2. Silver-impregnated dressing good --> but don't use long term due to silver absorption 3. Infection avoidance 1. Bathing or soaking with 0.005% sodium hypochlorite in a full standard or 0.25% acetic acid 2. Antibiotics - only use when needed 3. Hyperhidrosis treatment: aluminium chloride hexahydrate, botox
41
EB dressing recommendations
Soft silicone: mepilex, mepitel, for primary or secondary Non-adherent lipido-colloid dressings Hydrogel dressings - provide moisture to drier wounds Foam dressings - absorb moderate amounts of wounds - Mepilex, Allevyn Absorptive dressings - for heavy exudate Silver containing dressings - for colonized or infected - Mepilex
42
Systemic agents for EB management
- Phenytoin: for JEB and RDEB, not effective in RCTR - Tetracyclines or erythromycin for EBS - Thalidomide and cyclosporin in DEB pruriginosa - Systemic retinoids: jury is out as to whether prevents SCCs in this group
43
Excessive caries management
Oral hygiene Antiseptic and fluoride Dentist
44
Microstomia management
Physical therapy | Mouth expanding devices
45
Oral ulceration management
Topical antiseptics NSAIDs barriers
46
GIT management
Dietary modification PPI H2 blocker Gastro
47
Nutritional management
Check growth and vitamins and minerals | Refer to dietician
48
Anaemia management
``` Monitor Iron EPO Transfusion gen paeds ```
49
Urinary outflow obstruction
Annual USS of UT | urology
50
Renal disease mgmt
Monitor every 6 months - U/A, UEC, BP
51
Osteopaenia management
Annual DEXA scan at age 5 on for RDEB and JEB, calcium and vitamin D Consider bisphosphonate
52
Pseudosyndactyly of hands/feet management
Splints Wrapping of fingers in RDEB Surgeons
53
SCC monitoring
Skin exams for RDEB every 3-6 months starting from age 10, and every 3 months after 16 years Serial photos
54
Ocular management
Ophthal --> can do amniotic membrane transplantation
55
When to monitor for cardiac
Annual TTE in late childhood for RDEB
56
Pathogenesis of Kindler syndrome
- Basement membrane reduplication and mixed planes of cleavage: can be in stratum basale, lamina lucida, lamina densa - FERMT1 mutation: involved in actin filaments in basal keratinocytes to underlying ECM - Kindlin-1: affects keratinocyte normality, and also regulates stem cell homeostasis --> increased risk of skin cancer if gone
57
Kindler clinical
- At birth - forearms, shins - Blistering - hands and feet - Skin fragility - decreases with age - Photosensitivity - increased burning, reticulated hyperpigmentation, telangiectasias in sun exposed sites --> moves to sun protected sites - Poikiloderma: persists throughout life - Mild webbing - Palmoplantar hyperkeratosis - Eczema --> resolves by early childhood - Extracutaneous: - Erosive gingivitis and poor dentition - Intraoral and corneal scarring, ectropian, colitis - Strictures of oesophagus, urethra, vagina, anus - Increased risk of SCC

Derm (57 decks)

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