Chapter 60 - Inherited Epidermolysis Bullosa

Question 1

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Generalized severe EBS (Dowling-Meara)

Answer 1

Birth

Question 2

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Generalized intermediate EBS (Koebner)

Answer 2

Birth

Question 3

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Localized EBS (Weber-Cockayne)

Answer 3

Infancy, childhood, occasionally adulthood

Question 4

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Generalized severe JEB (Herlitz)

Answer 4

Birth

Question 5

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Generalized intermediate JEB

Answer 5

Birth

Question 6

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Localized JEB

Answer 6

no mention

Question 7

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

JEB with pyloric atresia

Answer 7

Birth

Question 8

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Localized DDEB (Cockayne-Touraine)

Answer 8

Birth or childhood

Question 9

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Generalized DDEB (Pasini)

Answer 9

Birth

Question 10

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Localized RDEB

Answer 10

Birth

Question 11

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

AGE OF ONSET

Severe RDEB (Hallopeau-Siemens)

Answer 11

Birth

Question 12

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Generalized; oral mucosal involvement; nail involvement

Answer 12

Generalized severe EBS (Dowling-Meara)

Question 13

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Generalized but most prominent on hands, feet, and extremities; mild oral mucosal involvement

Answer 13

Generalized intermediate EBS (Koebner)

Question 14

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Areas of friction or trauma, most commonly the hands and feet; mild oral involvement

Answer 14

Localized EBS (Weber-Cockayne)

Question 15

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Generalized; mucosal involvement (nasal, conjunctival, esophageal, tracheal, laryngeal, rectal, urethral); nail involvement; dental involvement

Answer 15

Generalized severe JEB (Herlitz)

Question 16

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Generalized; minimal oral or other mucosal involvement; dental involvement

Answer 16

Generalized intermediate JEB

Question 17

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Localized (most often hands, feet, pretibial regions); oral mucosal involvement (minimal); nail involvement; dental involvement

Answer 17

Localized JEB

Question 18

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Generalized; mucosal involvement; systemic involvement

Answer 18

JEB with pyloric atresia

Question 19

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Generalized early in life but localizes to sites of trauma (knees, sacrum, acral areas); nail involvement

Answer 19

Localized DDEB (Cockayne-Touraine)

Question 20

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Generalized early in life but may localize to extremities; nail involvement

Answer 20

Generalized DDEB (Pasini)

Question 21

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Acral distribution

Answer 21

Localized RDEB

Question 22

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

DISTRIBUTION
Generalized; mucosal involvement; dental involvement

Answer 22

Severe RDEB (Hallopeau-Siemens)

Question 23

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

CLINICAL MANIFESTATIONS
Sudden onset of grouped or herpetiform blisters, extensive erosions; nail shedding and dystrophy palmoplantar hyperkeratosis in older children

Answer 23

Generalized severe EBS (Dowling-Meara)

Question 24

TABLE 60-3
Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations

DIAGNOSIS

CLINICAL MANIFESTATIONS
Erosions, palmoplantar hyperkeratosis

Answer 24

Generalized intermediate EBS (Koebner)

Question 25

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS CLINICAL MANIFESTATIONS Blistering after trauma; palmoplantar hyperhidrosis

Answer 25

Localized EBS (Weber-Cockayne)

Question 26

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS CLINICAL MANIFESTATIONS Extensive blistering; periorificial granulation tissue (mouth, eyes, nares); loss of nails or dystrophic nails with granulation tissue; pitted tooth enamel

Answer 26

Generalized severe JEB (Herlitz)

Question 27

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS CLINICAL MANIFESTATIONS Widespread blistering; extensive dental caries; nail dystrophy; may have progressive alopecia of scalp

Answer 27

Generalized intermediate JEB

Question 28

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS CLINICAL MANIFESTATIONS Localized erosions; nail shedding and dystrophy; enamel pitting; oral and nasal erosions

Answer 28

Localized JEB

Question 29

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS CLINICAL MANIFESTATIONS Extensive cutaneous sloughing, with widespread blistering

Answer 29

JEB with pyloric atresia

Question 30

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS CLINICAL MANIFESTATIONS Blisters; nail dystrophy or nail loss may be presenting symptoms

Answer 30

Localized DDEB (Cockayne-Touraine)

Question 31

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS CLINICAL MANIFESTATIONS Widespread severe blistering; albopauloid lesions; oral erosions; dystrophic or absent nails; enamel defects

Answer 31

Generalized DDEB (Pasini)

Question 32

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS CLINICAL MANIFESTATIONS Blisters; mild oral mucosal erosions

Answer 32

Localized RDEB

Question 33

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS CLINICAL MANIFESTATIONS Extensively denuded skin; enamel pitting with caries and loss of teeth

Answer 33

Severe RDEB (Hallopeau-Siemens)

Question 34

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS Milia formation, contractures, esophageal erosions, pyloric atresia

Answer 34

Generalized severe EBS (Dowling-Meara)

Question 35

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS Postinflammatory hyperpigmentation or hypopigmentation, milia formation

Answer 35

Generalized intermediate EBS (Koebner)

Question 36

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS No milia formation; no scarring sequelae

Answer 36

Localized EBS (Weber-Cockayne)

Question 37

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS Tracheolaryngeal stenosis or obstruction, failure to thrive, sepsis

Answer 37

Generalized severe JEB (Herlitz)

Question 38

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS Atrophic scars, normal growth

Answer 38

Generalized intermediate JEB

Question 39

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS Pyloric stenosis, hydronephrosis, nephritis

Answer 39

JEB with pyloric atresia

Question 40

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS Milia, hypertrophic scarring

Answer 40

Localized DDEB (Cockayne-Touraine)

Question 41

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS Milia, scarring plaques

Answer 41

Generalized DDEB (Pasini)

Question 42

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS Milia, scarring

Answer 42

Localized RDEB

Question 43

TABLE 60-3 Summary of the Types of Epidermolysis Bullosa and their Clinical Manifestations DIAGNOSIS SEQUELAE AND COMPLICATIONS Pseudosyndactyly, flexion contractures of hands and limbs, tracheal and laryngeal involvement, esophageal structures, malnutrition, growth retardation, anemia, iron deficiency, SCC

Answer 43

Severe RDEB (Hallopeau-Siemens)