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FD9 > 50 - Acantholytic Disorders of the Skin > Flashcards

50 - Acantholytic Disorders of the Skin Flashcards

1
Q

Mode of inheritance: Darier disease

A

Autosomal dominant

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2
Q

Darier disease also known as

A

Darier-White disease

Keratosis follicularis

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3
Q

Age of onset

A

First to second decade

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4
Q

Discrete, greasy, yellowish-brown keratotic papules on the seborrheic areas
“Intolerable stench”

A

Darier disease

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5
Q

Nail fragility, painful longitudinal splits, or distinctive red and white longitudinal bands terminating in V-shaped nicks are frequent and highly suggestive of

A

Darier disease

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6
Q

Darier disease has been reported in association with

A

Neuropsychiatric disease

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7
Q

Exacerbates Darier disease, possibly by suppressing levels of epidermal SERCA2
May be prescribed for bipolar disorder

A

Lithium

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8
Q

Gene mutation: Darier disease

A

ATP2A2

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9
Q

ATP2A2 encodes

A

Sarco- and endoplasmic reticulum Ca2+ adenosine triphosphate isoform 2 (SERCA2)

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10
Q

Major SERCA2 isoform detected in the human epidermis

A

SERCA2b

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11
Q

Normal Ca2+ gradient in the epidermis

A

Increasing epidermal Ca2+ gradient from the basal to superficial layers

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12
Q

Ca2+ gradient in the epidermis of patients with Darier disease

A

Level of Ca2+ is reduced in basal cells from both affected and unaffected skin

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13
Q

Earliest ultrastructural change in Darier disease

A

Breakdown of desmosomes with aggregation of keratin filaments around the cell nucleus

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14
Q

Histopathology shows downgrowths of narrow cords of keratinocytes, suprabasal acantholysis with suprabasal clefts, dyskerstosis and hyperkeratosis
Corps ronds and grains

A

Darier disease

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15
Q

Rounded eosinophilic dyskeratotic cells in the epidermis

A

Corps ronds

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16
Q

Flattened parakeratotic cells in the cornified layer

A

Grains

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17
Q

Pregnancy is contraindicated for _____ after stopping treatment with acitretin and for _____ after stopping isotretinoin or alitretinoin

A

2 years

1 month

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18
Q

Acrokeratosis verruciformis is also known as

A

Acral Darier disease

Acrokeratosis verruciformis of Hopf

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19
Q

Mode of inheritance: acrokeratosis verruciformis of Hopf

A

Autosomal dominant

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20
Q

Histopathology shows hyperkeratosis, hypergranulosis, and acanthosis with papillomatosis
“Church spires”
Epidermis is neither dyskeratotic nor acantholytic

A

Acrokeratosis verruciformis

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21
Q

Hailey-Hailey disease is also known as

A

Familial benign chronic pemphigus

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22
Q

HHD age on onset

A

Third to form decade

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23
Q

Weeping erosions, vesicopustules, expanding annular plaques with peripheral scaly borders, and vegetating plaques with fissures (rhagades)
Predominantly at sites of friction

A

HHD

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24
Q

Gene mutation: Hailey-Hailey disease

A

ATP2C1

25
Q

Localized, whitish papules that tend to cluster on the genitalia and the inguinal folds

A

Papular acantholytic dyskeratosis

26
Q

Gene mutation: papular acantholytic dyskeratosis

A

ATP2C1

27
Q

ATP2C1 encodes

A

Human secretory-pathway Ca2+/Mn2+ ATPase isoform 1 (SPCA1)

28
Q

The structure of SPCA is similar to that of SERCA, but SPCA only transports _____ into the Golgi lumen

A

A single Ca2+ or Mn2+ ion

29
Q

SPCA1 is localized to the

A

Basal layer of the normal epidermis

30
Q

Effect of ATP2C1 mutation on Ca2+ stores

A

Total Ca2+ in the epidermal granular layer is reduced, and the normal epidermal Ca2+ gradient is attenuated in both affected and unaffected skin

31
Q

Although ATP2C1 mRNA is expressed ubiquitously, HHD is limited to the skin because

A

Keratinocytes may be more sensitive to levels of SPCA1 than other cells, because unlike most other cells, the Golgi in keratinocytes lack SERCA to compensate for deficient SPCA1

32
Q

Histopathology shows widespread partial loss of cohesion between suprabasal keratinocytes with an appearance likeness to a dilapidated brick wall

A

HHD

33
Q

HHD vs DD: acantholysis is more widespread and dyskeratosis less prominent

A

HHD

34
Q

Can be influenced by pregnancies

A

HHD

35
Q

Grover disease is also known as

A

Transient acantholytic dermatosis

Persistent acantholytic dermatosis

36
Q

Age of onset

A

Fifth decade

37
Q

Itchy rash on sun-damaged skin of the trunk
Scattered pinkish or red-brown papules with variable hyperkeratosis, papulovesicles (rarely bullae), or less often eczematous plaques
Most common in fair skinned men older than 40 years old

A

Grover disease

38
Q

Mode of inheritance: Grover disease

A

Nonfamilial

Pathogenesis remains unknown

39
Q

Asymptotic, skin-colored, flat-topped warty papules on the dorsum of the hands and feet

A

Acrokeratosis verruciformis

40
Q

Hailey-Hailey disease is also known as

A

Familial benign chronic pemphigus

41
Q

HHD age on onset

A

Third to form decade

42
Q

Weeping erosions, vesicopustules, expanding annular plaques with peripheral scaly borders, and vegetating plaques with fissures (rhagades)
Predominantly at sites of friction

A

HHD

43
Q

Gene mutation: Hailey-Hailey disease

A

ATP2C1

44
Q

Localized, whitish papules that tend to cluster on the genitalia and the inguinal folds

A

Papular acantholytic dyskeratosis

45
Q

Gene mutation: papular acantholytic dyskeratosis

A

ATP2C1

46
Q

ATP2C1 encodes

A

Human secretory-pathway Ca2+/Mn2+ ATPase isoform 1 (SPCA1)

47
Q

The structure of SPCA is similar to that of SERCA, but SPCA only transports _____ into the Golgi lumen

A

A single Ca2+ or Mn2+ ion

48
Q

SPCA1 is localized to the

A

Basal layer of the normal epidermis

49
Q

Effect of ATP2C1 mutation on Ca2+ stores

A

Total Ca2+ in the epidermal granular layer is reduced, and the normal epidermal Ca2+ gradient is attenuated in both affected and unaffected skin

50
Q

Although ATP2C1 mRNA is expressed ubiquitously, HHD is limited to the skin because

A

Keratinocytes may be more sensitive to levels of SPCA1 than other cells, because unlike most other cells, the Golgi in keratinocytes lack SERCA to compensate for deficient SPCA1

51
Q

Histopathology shows widespread partial loss of cohesion between suprabasal keratinocytes with an appearance likeness to a dilapidated brick wall

A

HHD

52
Q

HHD vs DD: acantholysis is more widespread and dyskeratosis less prominent

A

HHD

53
Q

Can be influenced by pregnancies

A

HHD

54
Q

Grover disease is also known as

A

Transient acantholytic dermatosis

Persistent acantholytic dermatosis

55
Q

Age of onset

A

Fifth decade

56
Q

Itchy rash on sun-damaged skin of the trunk
Scattered pinkish or red-brown papules with variable hyperkeratosis, papulovesicles (rarely bullae), or less often eczematous plaques
Most common in fair skinned men older than 40 years old

A

Grover disease

57
Q

Mode of inheritance: Grover disease

A

Nonfamilial

Pathogenesis remains unknown

58
Q

Gene mutation: Acrokeratosis verruciformis

A

ATP2A2

FD9 (108 decks)

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