50 - Acantholytic Disorders of the Skin

Question 1

Mode of inheritance: Darier disease

Answer 1

Autosomal dominant

Question 2

Darier disease also known as

Answer 2

Darier-White disease

Keratosis follicularis

Question 3

Age of onset

Answer 3

First to second decade

Question 4

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

Answer 4

Darier disease

Question 5

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

Answer 5

Darier disease

Question 6

Darier disease has been reported in association with

Answer 6

Neuropsychiatric disease

Question 7

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

Answer 7

Lithium

Question 8

Gene mutation: Darier disease

Answer 8

ATP2A2

Question 9

ATP2A2 encodes

Answer 9

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

Question 10

Major SERCA2 isoform detected in the human epidermis

Answer 10

SERCA2b

Question 11

Normal Ca2+ gradient in the epidermis

Answer 11

Increasing epidermal Ca2+ gradient from the basal to superficial layers

Question 12

Ca2+ gradient in the epidermis of patients with Darier disease

Answer 12

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

Question 13

Earliest ultrastructural change in Darier disease

Answer 13

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

Question 14

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

Answer 14

Darier disease

Question 15

Rounded eosinophilic dyskeratotic cells in the epidermis

Answer 15

Corps ronds

Question 16

Flattened parakeratotic cells in the cornified layer

Answer 16

Grains

Question 17

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

Answer 17

2 years

1 month

Question 18

Acrokeratosis verruciformis is also known as

Answer 18

Acral Darier disease

Acrokeratosis verruciformis of Hopf

Question 19

Mode of inheritance: acrokeratosis verruciformis of Hopf

Answer 19

Autosomal dominant

Question 20

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

Answer 20

Acrokeratosis verruciformis

Question 21

Hailey-Hailey disease is also known as

Answer 21

Familial benign chronic pemphigus

Question 22

HHD age on onset

Answer 22

Third to form decade

Question 23

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

Answer 23

HHD

Question 24

Gene mutation: Hailey-Hailey disease

Answer 24

ATP2C1

Question 25

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

Answer 25

Papular acantholytic dyskeratosis

Question 26

Gene mutation: papular acantholytic dyskeratosis

Answer 26

ATP2C1

Question 27

ATP2C1 encodes

Answer 27

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

Question 28

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

Answer 28

A single Ca2+ or Mn2+ ion

Question 29

SPCA1 is localized to the

Answer 29

Basal layer of the normal epidermis

Question 30

Effect of ATP2C1 mutation on Ca2+ stores

Answer 30

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

Question 31

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

Answer 31

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

Question 32

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

Answer 32

HHD

Question 33

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

Answer 33

HHD

Question 34

Can be influenced by pregnancies

Answer 34

HHD

Question 35

Grover disease is also known as

Answer 35

Transient acantholytic dermatosis | Persistent acantholytic dermatosis

Question 36

Age of onset

Answer 36

Fifth decade

Question 37

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

Answer 37

Grover disease

Question 38

Mode of inheritance: Grover disease

Answer 38

Nonfamilial | Pathogenesis remains unknown

Question 39

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

Answer 39

Acrokeratosis verruciformis

Question 40

Hailey-Hailey disease is also known as

Answer 40

Familial benign chronic pemphigus

Question 41

HHD age on onset

Answer 41

Third to form decade

Question 42

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

Answer 42

HHD

Question 43

Gene mutation: Hailey-Hailey disease

Answer 43

ATP2C1

Question 44

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

Answer 44

Papular acantholytic dyskeratosis

Question 45

Gene mutation: papular acantholytic dyskeratosis

Answer 45

ATP2C1

Question 46

ATP2C1 encodes

Answer 46

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

Question 47

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

Answer 47

A single Ca2+ or Mn2+ ion

Question 48

SPCA1 is localized to the

Answer 48

Basal layer of the normal epidermis

Question 49

Effect of ATP2C1 mutation on Ca2+ stores

Answer 49

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

Question 50

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

Answer 50

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

Question 51

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

Answer 51

HHD

Question 52

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

Answer 52

HHD

Question 53

Can be influenced by pregnancies

Answer 53

HHD

Question 54

Grover disease is also known as

Answer 54

Transient acantholytic dermatosis | Persistent acantholytic dermatosis

Question 55

Age of onset

Answer 55

Fifth decade

Question 56

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

Answer 56

Grover disease

Question 57

Mode of inheritance: Grover disease

Answer 57

Nonfamilial | Pathogenesis remains unknown

Question 58

Gene mutation: Acrokeratosis verruciformis

Answer 58

ATP2A2