Fitz9. Ch50. Acantholytic DIsorders

Question 1

10-20 yo with discrete GREASY foul smelling yellowish brown keratotic papules coalescing into plaques (seborrheic distribution), V-shaped nicks in nail + corneal, oral; bone cyst

1. disease
2. pathogenesis
3. histopath?
4. mutation
5. complication (2)
6. 1st line tx
7. what drug can exacerbate this disease due to decrease in SERCA?

Answer 1

1. Darier-White disease
2. defective calcium pump of sarcoplasmic reticulum
3. corps ronds and grains
4. ATP2A2
5. eczema herpeticum; SCC + HPV 16
6. avoid trigger, antiseptic cleansing, topical antimictobials, urea, topical corticosteroids, topical retinoids
7. lithium

Question 2

asymptomatic skin-colored flat topped warty papules on symmetric DORSAL hands and feet), nail abnormalities
Histopath: CHURCH SPIRE elevations of epidermis. Disease?

Answer 2

acrokeratosis verruciformis of hopf/ acral darier

Question 3

30-40 yo with painful CRUSTED weeping/ oozing erosions, vesiculopustules, expanding annular plaques with peripheral scaly borders and VEGETATING plaques with fissures or RHAGADES on the flexures, trauma sites.
Nail: WHITE LONGITUDINAL LINES
1. disease?
2. histopath?
3. mutation?

Answer 3

1. Hailey-Hailey disease or Familial benign chronic pemphigus
2. dilapidated brick wall
3. ATP2C1

Question 4

50 yo white male with an intensely itchy scattered pinkish or red brown crusted papules with variable hyperkeratosis, papulovesicles, FOLLICULITIS-LIKE lesions at sun damaged skin.

1. disease?
2. mutation?

Answer 4

1. Grover disease

2. None. it is acquired.

Question 5

What is the order of Ca signaling in keratinocytes?

Answer 5

1. Ca- binding to its plasma membrane receptor activates phospholipase C (PLC)
2. hydrolysis of PIP2 into IP3 and DAG
3. IP3 binds to its receptor at ER and golgi apparatus, increasing intracellular Ca
4. opening of Ca release activating channels in plasma membrane
5. Ca bind to calmodulin
6. active Ca transport by SERCA (ER) and SPCA1 pump (golgi)
7. Ca efflux to extracellular space due to PMCA and NCX pump
8. mitochondria take up Ca from internal stores

Question 6

differentiate Darier-White disease from Hailey-Hailey disease in terms of

1. pathogenesis
2. mutation

Answer 6

Darier:

1. defected calcium pump of ER
2. ATP2A2

Hailey

1. defective calcium pump of Golgi apparatus
2. ATP2C1