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Dermatology Board Prep > DERM (21) Vesiculobullous Disease > Epidermolysis Bullosa > Flashcards

Epidermolysis Bullosa Flashcards

1
Q

What are the 4 major types of Epidermolysis bullosa?

A
  1. EB simplex: intraepidermal blister
  2. Junction EB blister through the lamina lucida
  3. Dystrophic EB (below lamina lucida)
  4. Kindler: mixed levels
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2
Q

What is the genetic most of the EB simplex diseases?

A

AD for all except for EBS-muscular dystrophy which is AR

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3
Q

What genes are abnormal in the EB simplex diseases?

A

KRT5 and KRT14 then PLEC (plectin) for AR EBS-muscular dystrophy

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4
Q

What is the most severe form of EBS?

A

EBS generalized severe (dowling meara or EBS herpetiformis)

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5
Q

Genetic inheritance of the junctional EB?

A

All are AR

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6
Q

Which of the EB disease scar?

A

Atropic, because they are below the lamina densa.

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7
Q

What may be associated with any subtype of EB?

A

Congenital localized absence of skin (CLAS), also called Bart syndrome

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8
Q

How do you bx a suspected EB case?

A

You have to induce the blister, do not do it with an already formed blister

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9
Q

What is the gold standard for dx EB?

A

Electron microscopy, however it is not often available so immunofluorescence mapping is often used in its place -Once you know the subtype you can pursue genetic workup

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10
Q

Where are the lesions most commonly located in Weber-Cockayne or Localized EBS?

A

Localized to the hands and feet (soles>palms)

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11
Q

Genetics of Weber-Cockayne or Localized EBS?

A

AD

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12
Q

Localization of the lesion in Weber-Cockayne or Localized EBS?

A

Intraepidermal (abnormal keratin 5 & 14)

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13
Q

Does scarring occur in Weber-Cockayne or Localized EBS?

A

No

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14
Q

Prognosis of Weber-Cockayne or Localized EBS?

A

Normal life span

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15
Q

Clinical of Weber-Cockayne or Localized EBS?

A

On the hands and feet (soles>palms) and it is worse in hot weather (summer) and with prolonged walking or marching (frictional trauma).

You sometimes get palmoplantar hyperkeratosis –> painful calluses -Hyperhidrosis (tx w/ aluminum chloride)

Rarely can have oral blisters or nail dystrophy

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16
Q

What are the genetics of EBS Generalized intermediate (Koebner)

A

AD, dz presents at birth or infancy

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17
Q

What is the level of the blister in EBS Generalized intermediate Koebner?

A

Intrapeidermal (keratins 5 and 14)

Non-scarring because of this.

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18
Q

Clinical of EBS Generalized intermediate Koebner?

A

Vesicles, bullae, and milia develop over JOINTS of hands, elbows, knees, and feet. Site of friction.

Like localized EBS it is worse in the summer and improves in the winter

Palmoplantar hyperkeratosis occurs over time.

can have a mucous membrane and nail involvement (oral blisters and nail dystrophy)

Unlike the localized variant the blisters are bigger and are located on multiple sites of friction (extensor surfaces). Also, palms and soles are relatively spared.

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19
Q

Genetics of EBS Generalized Severe (EBS herpetiformis or Dowling-Meara)?

A

AD

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20
Q

Clinical of EBS Generalized Severe (EBS herpetiformis or Dowling-Meara)?

A

Presents at birth or within first few weeks of life

Significant morbidity, mortality in first few months of life

**Most severe form of EBS

Generalized blisters with circinate or herpetiform configuration

Can heal with milia or scarring

Oral blisters common –> Significant mucous membrane +/- laryngeal/esophageal involvement –> hoarseness

Nail shedding, nail dystrophy and hyperkeratotisc nails common

Palmoplantar hyperkeratosis sig and common

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21
Q

What is seen on electron microscopy with EBS Generalized severe (EBS herpetiformis or Dowling-Meara

A

Clumped tonofilaments

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22
Q

What is the prognosis in EBS Generalized severe (EBS herpetiformis or Dowling-Meara)?

A

Usually normal life span: Rare early death d/t sepsis, anemia, or growth failure

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23
Q

What are the genetics of EBS w/ mottled pigmentation?

A

AD, defect in keratin 5 and 14. Usually develops in CHILDHOOD

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24
Q

Clinical presentation of EBS w/ mottled pigmentation?

A

Normal life span

Acral blisters, scattered hyper/hypopigmented macules that fade slowly after birth (mottling) on the TRUNK and LIMBS

  • Nail dystrophy is common
  • Punctate PPK
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25
Q

What histology finding occurs in EBS w/ mottled pigmentation?

A

Ultrastructural studies show vacuolization of the basal layer

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26
Q

What are the genetics of EBS w/ muscular dystrophy?

A

AR (only one)

Mutation is in plectin

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27
Q

Clinical of EBS w/ muscular dystrophy?

A

Generalized bullae at birth that heal w/ atrophic scars and milia

  • The late-onset neuromuscular disease that is progressive weakness and wasting that begins in childhood or later. This is the major cause of morbidity.
  • Nail dystrophy is common
  • Dental anomalies are common
28
Q

What are some important associated conditions in EBS w/ muscular dystrophy?

A

Cerebral/cerebellar atrophy

Laryngeal webs

Urethral Strictures

Scarring alopecias

29
Q

The genetic mutation in EBS Ogna?

A

AD, dz presents at birth

Mutation due to plectin

30
Q

Clinical presentation of EBS Ogna?

A

Generalized bruising and hemorrhagic blisters occur.

Small, acral, traumatic serosanguineous blisters

31
Q

Genetics of EBS w/ pyloric atresia?

A

Mutations in alpha6beta4 integrin (85%) or Plectin (15%)

32
Q

What are the 7 types of epidermoloysis bullosa simplex?

A

EBS localized (Weber Cockayne), EBS generalized intermediate (koebner), EBS generalized severe (Dowling-Meara or EBS herpetiforms), EBS-mottled pigmentation, EBS muscular dystrophy, EBS Ogna, EBS pyloric atresia

33
Q

What are the 7 types of Junctional EB?

A
  1. JEB Herlitz (JEB-H)
  2. JEB non-Herlitz generalized (JEB-nH/gen)
  3. JEB non-Herlitz, localized (JEB-nH/loc)
  4. JEB with pyloric atresia (JEB-PA)
  5. JEB inversa (JEB-I)
  6. JEB late onset
  7. Laryngo-onycho-cutaneous (LOC) syndrome
34
Q

What is the cleavage plane for Junctional EB?

A

Within the lamina lucida.

35
Q

Genetics for JEB?

A

All are AR

36
Q

What are the associated findings that can occur in all forms JEB?

A

Enamel hypoplasia/pitting and possible tooth loss due to caries

37
Q

What is the gene problem in JEB generalized severe (herlitz type, EB lethalis)

A

Premature termination codon resulting in abnormal laminin 332

38
Q

Clinical of JEB generalized severe herlitz type, EB lethalis)?

A

Oral blisters, dysplastic teeth common, laryngeal and bronchial lesions (hoarse cry) [this may cause resp failure and even death], paronychial inflammation [nail dystrophy and nail loss]

39
Q

Prognosis of JEB generalized severe (herlitz type, EB lethalis)?

A

Fatal within the first few years (90% by age 1)

-M/c causes are resp failure and sepsis

Growth retardation and failure to thrive as well as multifactorial refractory anemia are common

40
Q

What are the genetics for JEB generalized intermediate and localized (non-herlitz type, generalized atrophic benign EB)

A

Generalized: laminin 332 (AR)

Localized: collagen 17 (BPAG2, BP180) (AR)

41
Q

What are the main clinical findings in JEB Generalized intermediate (non-Herlitz type, generalized atrophic benign EB)?

A

Generalized blisters and oral involvement.

Increased on the extremities, heals with ATROPHIC SCARS, improves as the child ages, granulation tissue is UNCOMMON

42
Q

What are the associated clinical findings in JEB Generalized intermediate (non-Herlitz type, generalized atrophic benign EB)?

A

Scarring alopecia, nail dystrophy, dental enamel hypoplasia, corneal erasions

43
Q

The genetic mutation in pyloric atresia?

A

Alpha6beta4 integrin (uniquely expressed on special epithelial surfaces)

AR

44
Q

What is the clinical of JEB w/ pyloric atresia?

A

Generalized blisters, often large areas of congenital localized absence of skin

can be present in any type of EB but more common in this subtype

45
Q

Associated clinical findings in JEB w/ pyloric atresia?

A

Pyloric atresia, scarring of the urinary tract (think epithelial surfaces), ureteral stenosis and hydronephrosis [can lead to renal failure and require urologic surgery].

-Rudimentary and malformed ears

Prognosis is bad, mortality in infancy usually.

46
Q

What are the two main types of Dystrophic EB?

A

Dominant dystrophic EB

Recessive dystrophic EB

47
Q

Which of the two types of dystrophic EB is milder?

A

The dominant dystrophic EB is a more mild but considerable overlap between the milder forms.

Sometimes the dominant dystrophic EB presents only with nail dystrophy.

48
Q

What are the genetics of dermolytic or dystrophic EB?

A

Mutations in COL7A1 gene encoding for type VII collagen

49
Q

Major types of dominant dermolytic or dystrophic EB?

A

DDEB, hyperplastic varient (Cokayne-Touraine)

DDEB, albopapuloid varient (Pasini)

Bart Syndrome

Transient bullous dermolysis of the newborn

50
Q

What are the 2 major types of recessive dystrophic EB?

A

Generalized Severe (Hallopeau-Siemens)

Generalized Intermediate (non-Hallopeau-Siemens)

51
Q

Genetics of dominant dystrophic epidermolysis bullosa?

A

Missense mutation (glycine substitution) in COL7A1 gene encoding for collagen type VII

Anchoring fibrils are defective or deficient

52
Q

Clinical of Dominant dystrophic epidermolysis bullosa?

A

Presents at birth to early infancy. Debilitating but normal life span tends to improve over time.

  • Generalized bullae, more prominent on extensor surfaces of extremities
  • Most pronounced over joints, esp. toes, fingers, knuckles, ankles and elbows.
  • Nikolsky sign present (sublamina densa)
53
Q

Associated clinical features in Dominant dystrophic epidermolysis bullosa?

A

Nail dystrophy common and sometimes the only finding

Oral blisters can occur

Rarely esophageal strictures can occur

Anemia uncommon

54
Q

Features of the Cockayne Touraine form of dominant dystrophic EB

A

More limited in extent and severity, no albopapuloid lesions are seen

Bullae localized to extremities resolving with milia and scarring (especially over joints[dorsal hands])

Mild mucosal involvement

55
Q

Features of the Pasini (albopapuloid varient)?

A

Similar to Cocayne-Touraine but healing with hypopigmented perifollicular scar-like “albopapuloid” white papules

  • Albopapuloid lesions are small, grouped hypopigmented papules
  • These favor the trunk, arise spontaneously (without preceding blisters sometimes.
56
Q

What are the genetics of the Recessive dystrophic EB (Hallopeau-Siemens type)?

A

Due to premature termination codon in COL7A1 gene encoding for collagen type VII

Leads to Lack of anchoring fibrils

57
Q

Clinical of Recessive dystrophic EB (Hallopeau-Siemens)

A

Presents at birth

Generalized mucocutaneous bullae

  • Heals w/ atrophic chronic scars and milia
  • Develop numerous aggressive SCC’s (#1 cause of death)
  • Significant mucosal ulcers/scarring
  • They have oral/pharyngeal/laryngeal lesions–>hoarseness
  • esophageal lesions–> strictures/stenosis
  • Anal lesions –> Dyschezia, fecal impaction
  • Conjunctival/corneal lesions –>keratitis, vision loss
  • GU lesions–> scarring, strictures
58
Q

What are the genetics of the recessive dystrophic EB generalized intermediate (non-Hallopeau-Siemens) type?

A

Due to missense mutation (glycine substitution) in COL7A1 gene encoding for collagen type VII

Anchoring fibrils are defective or deficient

59
Q

Clinical of the recessive dystrophic EB generalized intermediate (non-Hallopeau-Siemens) type?

A

Generalized blisters that heal w/ atrophic scars and milia

**Lesions are localized to acral bony prominences

This one can be hard to tell from dominant dystrophic EB. Fewer comorbidities than the generalized severe form.

60
Q

What is Bart’s syndrome?

A

AD (defect in COL7A1 gene –> type VII collagen)

Basically aplasia cutis (congenital localized absence of skin) + dominant dystrophic EB.

MC on shins and lower extremities, nail dystrophy common

61
Q

What are the associated clinical features of Bart’s syndrome?

A

Mandibulofacial dysostosis, renal aplasia, congenital abnormalities of the lower extremities

62
Q

What is transient bullous dermatosis of the newborn?

A

Transient form of dystrophic EB

presents with vesicular bullous lesions at birth or induced by friction (pretibial, prurigoginosa)

Spontaneous recovery at a few months of age (no dystrophic scars)

63
Q

What are the genetics of Kindler syndrome (acrokeratotic poikiloderma)?

A

AR, presents in neonatal period

Defect in FERMT1 gene (fermitin family homolog 1)

Adhesion protein responsible for linking actin cytoskeleton w/ ECM (affects keratinocyte adhesion and migration)

IHC in this one will show reduced or absent staining against fermitin family homolog 1

64
Q

Clinical findings in Kindler syndrome (acrokeratotic poikiloderma)?

A

Skin fragility, poikiloderma, photosensitivity (fragility and photosensitivity usually improves over time)

Combination of poikiloderma congenital and traumatic acral blistering of the feet from minor trauma (DDEB + Rothmund-Thompson)

65
Q

Microscopic findings of Kindler Syndrome (acrokeratotic poikiloderma)

A

Electron microscopy: duplication of the lamina densa w/ absent or fragile elastic fibers

Histology: absence/fragmentation of elastic fibers

66
Q

Associated clinical features in Kindler Syndrome (acrokeratotic poikiloderma)?

A

Poikiloderma with diffuse cutaneous atrophy

Photosensitivity

Palmoplantar hyperkeratosis

Severe periodontal disease (erosive gingivitis)

Can lead to SCC of the lip & hard palate

Phimosis

Some may develop intestinal dysfunction of ulcerative colitis

DERM (21) Vesiculobullous Disease (7 decks)

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