60 - Inherited Epidermolysis Bullosa

Question 1

Blistering level categories in inherited EN

Answer 1

Simplex
(Hemidesmosomal)
Junctional
Dystrophic

Question 2

Major constituent of anchoring fibrils

Answer 2

Collagen VII

Question 3

Traditionally the diagnostic gold standard for grouping EB

Answer 3

Electron microscopy

Question 4

Characterized by intraepidermal blistering and most often id associated with keratin gene mutations

Answer 4

EB simplex

Question 5

Major EBS types

Answer 5

Generalized severe (Dowling-Meara)
Generalized intermediate (Koebner)
Localized (Weber-Cockayne)

Question 6

Most severe form of the EBS subtypes

Answer 6

Generalized severe EBS (Dowling Meara)

Question 7

Heat exacerbates the blistering in EBS subtypes except

Answer 7

Generalized severe EBS (Dowling Meara)

Question 8

Generalized severe EB differs from the generalized intermediate variant in that the ______ is more often involved

Answer 8

Oral mucosa

Question 9

Most common form of EB

Answer 9

Localized EBS (Weber-Cockayne)

Question 10

Hyperhidrosis of the palms and soles is a common association with

Answer 10

Localized EBS (Weber-Cockayne)

Question 11

Milia and scarring as a rule are absent

Answer 11

Localized EBS (Weber-Cockayne)

Question 12

Blistering activity in localized EBS is most common on the _____ and least common on the _____

Answer 12

Hands and feet

Scalp

Question 13

Seasonal blistering (summer) on the acral areas
Healing occurs without scarring
Characteristic onychogryphosis of the great toenails

Answer 13

EBS of Ogna

Question 14

Generalized blistering of the skin at birth or shorty thereafter
Accompanied by progressive muscular dystrophy

Answer 14

EBS with muscular dystrophy

Question 15

EBS with muscular dystrophy patients have been shown to harbor mutations in the gene coding for

Answer 15

HD1/plectin

Question 16

Characterized by mottled hyperpigmentation of the trunk and proximal extremities with blistering in a generalized distress beginning at birth or early infancy

Answer 16

EBS with mottled pigmentation

Question 17

Named after the subcorneal separation that produces the blisters in this disease
Erosions and crusts, rather than intact bullae m, are usually seen

Answer 17

EBS superficialis

Question 18

Lethal disorder
Characterized by generalized erosions at birth with a very superficial level of separation, which has been described as sheetlike
Alopecia, neonatal teeth, oral erosions, and respiratory involvement distinguish this disorder from other superficial EBS subtypes

Answer 18

Acantholytic EBS

Question 19

Suprabasilar epidermal separation characterized by generalized erosions and sometimes superficial blisters

Answer 19

Plakophilin deficiency or ectodermal dysplasia skin fragility syndrome

Question 20

BP230 deficiency is caused by mutations of the

Answer 20

DST-e gene

Question 21

Has beed described in a small collection of Kuwaiti and Iranian families
Localized, often affecting the feet

Answer 21

BP230 deficiency

Question 22

Exophillin-5 deficiency is caused by mutations of the

Answer 22

EXPH5 gene

Question 23

Trauma-induced crusting or fragile blisters and vesicles

Remission during childhood is characteristic of this disease

Answer 23

Exophillin-5 deficiency

Question 24

Superficial and painless skin peeling most commonly on the hands and feet
Humidity, heat, and water exposure can exacerbate this condition

Answer 24

Acral peeling skin syndrome

Question 25

Level of separation in acral peeling syndrome

Answer 25

Between the stratum granulosum and startum corneum

Question 26

Most of the patients with EBS have been found to be associated with mutations of the genes coding for

Answer 26

Keratins 5 and 14

Question 27

Majority of keratin gene mutations associated with EBS are _____ inherited

Answer 27

Domintantly

Question 28

Ectodermal dysplasia skin fragility syndrome involves loss-of-function mutations in the _____ gene coding for _____

Answer 28

PKP1 | Plakophilin 1

Question 29

Plakophilin is expressed mainly in

Answer 29

Suprabasilar keratinocytes | Outer root sheath cells

Question 30

Acral peeling skin syndrome is caused by mutations of _____, which produces alterations of _____ expression

Answer 30

TGM5 | Transglutaminase

Question 31

Blister formation within the lamina lucida of the BMZ

Answer 31

Junctional EB

Question 32

Junction EB mode of unheritance

Answer 32

Autosomal recessive

Question 33

Principal forms of junctional EB

Answer 33

``` Generalized severe JEB (previously termed Herlitz disease, JEB gravis, or lethal JEB) Generalized intermediate JEB (nonlethal JEB or JEB mitis) Localized JEB (minimus JEB) ```

Question 34

Most common subtype of JEB

Answer 34

Generalized severe JEB

Question 35

Results in lethality during infancy or early adulthood Distinctive periorificial granulation manifests later during infancy Involvement of the large airways including tracheolaryngeal stenosis or obstruction Failure to thrive Growth retardation Sepsis

Answer 35

Generalized severe JEB

Question 36

Lack of lethality in infancy | Lack of significant hoarseness is regarded as a favorable prognostic sign

Answer 36

Generalized intermediate JEB

Question 37

Distinct subset of generalized intermediate JEB Heal with a characteristic atrophic scarring Progressive alopecia of the scalp and terminal hairs

Answer 37

Generalized atrophic benign EB

Question 38

Characterized by nail dystrophy, cutaneous erosions, and extensive granulation tissue, especially localizing to the conjunctiva and larynx

Answer 38

Laryngo-onycho-cutaneous syndrome

Question 39

Characterized by blisters that heal with scarring and milium formation from sublamina densa separation

Answer 39

Dystrophic EB

Question 40

DEB mode of inheritance

Answer 40

Autosomal recessive or dominant

Question 41

One of the most important reasons to distinguish between recessive or dominant DEB

Answer 41

Increased prevalence of invasive SCC associated with the recessive form

Question 42

DEB is derived from defects of the

Answer 42

Anchoring fibril

Question 43

Localized autosomal dominant DEB is also called

Answer 43

Cockayne-Touraine of DDEB

Question 44

Generalized autosomal dominant DEB is also called

Answer 44

Pasini subtype of DDEB

Question 45

Distinguished by the spontaneous appearance of distinctive scarlike, flesh-colored papules on the trunk (albopapuloid lesions)

Answer 45

Generalized autosomal dominant DEB

Question 46

Self-remitting generalized DDEB | Biopsy often shows basal epidermal intracytoplasmic accumulations of collagen VII

Answer 46

Bullous dermolysis of the newborn

Question 47

Localized recessive DEB is also known as

Answer 47

RDEB mitis

Question 48

Severe recessive DEB is also known as

Answer 48

Hallopeau-Siemens

Question 49

Congenital absence of the skin

Answer 49

Bart syndrome

Question 50

DEB has been shown to be associated in all cases thus far with mutations of the gene coding for

Answer 50

collagen VII (COL7A1)

Question 51

EB-like trauma-induced blistering at birth and during infancy, with atrophic changes during healing reminiscent of JEB or DEB

Answer 51

Kindler syndrome

Question 52

Most consistent feature seen in Kindler syndrome

Answer 52

Reduplication of the basement membrane

Question 53

Y/N: Routine histologic analysis can be used to diagnose EB

Answer 53

No - Routine histologic analysis cannot be used to diagnose EB but can be useful for excluding other causes of blistering

Question 54

It is best to place the circular biopsy punch so that only _____% of the punch covers the visible blister with _____% covering intact skin

Answer 54

10 | 90

Question 55

Clumping of keratin intermediate filaments in basal keratinocyte cytoplasm is a pathognomonic finding for

Answer 55

Severe generalized (Dowling-Meara) EBS

Question 56

Rudimentary hemidesmosomes can be an important clue to the disgnosis of

Answer 56

JEB

Question 57

Absent or altered anchoring fibrils often occur in

Answer 57

DEB, especially the recesive forms

Question 58

EB variant most in need of surgical intervention

Answer 58

Severe recessive DEB (Hallopeau-Siemens)

Question 60

Has been used for patients with RDEB for chemoprevention of SCC

Answer 60

Isotretinoin

Question 61

Patients with EBS, particularly those with the _____ subtype, can experience recurrent inflammation of the eyelid, with bullous lesions in the conjunctivae

Answer 61

Dowling-Meara

Question 62

Devastating and potentially fatal complication of severe DEB and JEB that is highly associated with chronic anemia

Answer 62

Dilated cardiomyopathy

Question 63

Shown promise in reducing the fibrosis accompanying DEB wounding by reducing transforming growth factor-beta in the skin

Answer 63

Losartan

Question 64

Often the most disabling complication found in recessive DEB and JEB of both the severe and intermediate generalized variants

Answer 64

Esophageal lesions