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Chapter 60 - Inherited Epidermolysis Bullosa Flashcards

1
Q

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

AGE OF ONSET

Generalized severe EBS (Dowling-Meara)

A

Birth

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2
Q

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

AGE OF ONSET

Generalized intermediate EBS (Koebner)

A

Birth

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3
Q

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

AGE OF ONSET

Localized EBS (Weber-Cockayne)

A

Infancy, childhood, occasionally adulthood

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4
Q

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

AGE OF ONSET

Generalized severe JEB (Herlitz)

A

Birth

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5
Q

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

AGE OF ONSET

Generalized intermediate JEB

A

Birth

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6
Q

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

AGE OF ONSET

Localized JEB

A

no mention

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7
Q

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

AGE OF ONSET

JEB with pyloric atresia

A

Birth

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8
Q

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

AGE OF ONSET

Localized DDEB (Cockayne-Touraine)

A

Birth or childhood

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9
Q

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

AGE OF ONSET

Generalized DDEB (Pasini)

A

Birth

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10
Q

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

AGE OF ONSET

Localized RDEB

A

Birth

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11
Q

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

AGE OF ONSET

Severe RDEB (Hallopeau-Siemens)

A

Birth

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12
Q

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

DIAGNOSIS

DISTRIBUTION
Generalized; oral mucosal involvement; nail involvement

A

Generalized severe EBS (Dowling-Meara)

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13
Q

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

A

Generalized intermediate EBS (Koebner)

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14
Q

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

A

Localized EBS (Weber-Cockayne)

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15
Q

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

A

Generalized severe JEB (Herlitz)

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16
Q

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

A

Generalized intermediate JEB

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17
Q

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

A

Localized JEB

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18
Q

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

DIAGNOSIS

DISTRIBUTION
Generalized; mucosal involvement; systemic involvement

A

JEB with pyloric atresia

19
Q

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

A

Localized DDEB (Cockayne-Touraine)

20
Q

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

A

Generalized DDEB (Pasini)

21
Q

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

DIAGNOSIS

DISTRIBUTION
Acral distribution

A

Localized RDEB

22
Q

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

DIAGNOSIS

DISTRIBUTION
Generalized; mucosal involvement; dental involvement

A

Severe RDEB (Hallopeau-Siemens)

23
Q

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

A

Generalized severe EBS (Dowling-Meara)

24
Q

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

DIAGNOSIS

CLINICAL MANIFESTATIONS
Erosions, palmoplantar hyperkeratosis

A

Generalized intermediate EBS (Koebner)

25
Q

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

DIAGNOSIS

CLINICAL MANIFESTATIONS
Blistering after trauma; palmoplantar hyperhidrosis

A

Localized EBS (Weber-Cockayne)

26
Q

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

A

Generalized severe JEB (Herlitz)

27
Q

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

A

Generalized intermediate JEB

28
Q

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

A

Localized JEB

29
Q

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

DIAGNOSIS

CLINICAL MANIFESTATIONS
Extensive cutaneous sloughing, with widespread blistering

A

JEB with pyloric atresia

30
Q

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

A

Localized DDEB (Cockayne-Touraine)

31
Q

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

A

Generalized DDEB (Pasini)

32
Q

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

DIAGNOSIS

CLINICAL MANIFESTATIONS
Blisters; mild oral mucosal erosions

A

Localized RDEB

33
Q

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

A

Severe RDEB (Hallopeau-Siemens)

34
Q

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

A

Generalized severe EBS (Dowling-Meara)

35
Q

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

DIAGNOSIS

SEQUELAE AND COMPLICATIONS
Postinflammatory hyperpigmentation or hypopigmentation, milia formation

A

Generalized intermediate EBS (Koebner)

36
Q

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

DIAGNOSIS

SEQUELAE AND COMPLICATIONS
No milia formation; no scarring sequelae

A

Localized EBS (Weber-Cockayne)

37
Q

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

A

Generalized severe JEB (Herlitz)

38
Q

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

DIAGNOSIS

SEQUELAE AND COMPLICATIONS
Atrophic scars, normal growth

A

Generalized intermediate JEB

39
Q

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

DIAGNOSIS

SEQUELAE AND COMPLICATIONS
Pyloric stenosis, hydronephrosis, nephritis

A

JEB with pyloric atresia

40
Q

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

DIAGNOSIS

SEQUELAE AND COMPLICATIONS
Milia, hypertrophic scarring

A

Localized DDEB (Cockayne-Touraine)

41
Q

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

DIAGNOSIS

SEQUELAE AND COMPLICATIONS
Milia, scarring plaques

A

Generalized DDEB (Pasini)

42
Q

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

DIAGNOSIS

SEQUELAE AND COMPLICATIONS
Milia, scarring

A

Localized RDEB

43
Q

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

A

Severe RDEB (Hallopeau-Siemens)

Fitzpatrick Tables (55 decks)

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