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SBL > Disorders of Pigmentation and Melanocytes > Flashcards

Disorders of Pigmentation and Melanocytes Flashcards

1
Q

Most common pigmented lesion of childhood?

A

Freckle

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2
Q

When does a Freckle arise?

A

AFTER sun exposure

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3
Q

Can Freckles fade or darken, if so, when?

A

Yes, with season changes

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4
Q

What spots are seen with Neurofibromatosis?

A

Cafe au lait spots

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5
Q

Cafe au lait spots are seen with what condition?

A

Neurofibromatosis

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6
Q

When do Cafe au lait spots arise?

A

INDEPENDENT of sun exposure

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7
Q

How do Cafe au lait spots compare to Freckles?

A
  • Larger
  • Contain aggregated melanosomes (macromelanosomes) in the cytoplasm of melanocytes
  • Do not correlate with sun exposure
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8
Q

Lentigo

A

Benign localized hyperplasia of melanocytes

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9
Q

Benign localized hyperplasia of melanocytes

A

Lentigo

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10
Q

When is Lentigo initiated?

A

Childhood but occurs at all ages

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11
Q

How does Lentigo react when exposed to light?

A

(hyperplasia of melanocytes)

= Does NOT darken

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12
Q

How does Lentigo look on histology?

A

Linear melanocytic hyperplasia

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13
Q

Histologically, Lentigo is restricted to?

A

To cell layer immediately ABOVE basement membrane

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14
Q

What is restricted to the cell layer immediately ABOVE the basement membrane?

A

Lentigo

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15
Q

Linear melanocyte hyperplasia?

A

Lentigo

- Benign

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16
Q

A Melanocytic Nevus is a?

A

Mole

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17
Q

Mole

A

Melanocytic Nevus

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18
Q

Melanocytic Nevi are acquired by mutations in components of what signaling pathways?

A

RAS and BRAF

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19
Q

Melanocytic Nevi have activating mutations in RAS and BRAF that are only active for a limited time. What causes permanent growth arrest?

A

P16/INK4a cause permanent growth arrest

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20
Q

How do Melanocytic Nevi usually look?

A

Usually small <6mm, well defined borders and one color

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21
Q

Junctional Nevi

A

Nest at dermoepidermal junction

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22
Q

Type of Nevi that nest at dermoepidermal junction

A

Junctional Nevi

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23
Q

Compound Nevi

A

Nest in the epidermis and the dermis

24
Q

Type of Nevi that nest in the epidermis and dermis

A

Compound Nevi

25
Q

Intradermal Nevi

A

NO epidermal nests; usually older lesions

26
Q

Type of nevi with NO epidermal nests

A

Intradermal Nevi - usually older

27
Q

Describe how Melanocytic Nevi look from superficial to deeper tissues histologically

A
  • Nests of large round cells
  • Smaller, single cells
  • Fusiform; fascicles resembling neural tissue
28
Q

Superficial nests of large round cells that transitions into smaller cells and then into fascicles the deeper into the tissue suggests?

A

Melanocytic Nevi

29
Q

Dysplastic Nevi have an increased risk of developing into?

A

Melanoma

30
Q

Dysplastic Nevus Syndrome

A

> 50% chance to develop Melanoma by age 60

- Autosomal Dominant

31
Q

What genes are mutated with Dysplastic Nevus Syndrome?

A

CDKN2A or CDK4

32
Q

Those with Dysplastic Nevus Syndrome will likely develop?

A

Multiple dysplastic nevi and melanoma

33
Q

Dysplastic Nevi acquire activating mutations in what pathways?

A

NRAS and BRAF

34
Q

Histo - Dysplastic Nevi are ____ than acquired Nevi

A

LARGER

35
Q

Histo - How do Dysplastic Nevi look?

A

Irregular borders with varied pigmentation and nests may coalesce

36
Q

Histo - what cells will infiltrate superficial dermis with Dysplastic Nevi?

A

Lymphocytes

37
Q

Histo - With Dysplastic Nevi, what surrounds the epidermal rete ridges?

A

Fibrosis

38
Q

What is Shouldering?

A

Extension of junctional component beyond the dermal nests of melanocytes - corresponds to the periphery of lesion

39
Q

What is Atypia and what is it seen with?

A

Irregular nucleus with hyperchromasia

- Dysplastic Nevi

40
Q

What is the most deadly skin cancer?

A

Melanoma

41
Q

Melanoma is usually caused by?

A

DNA damage due to UV light exposure

42
Q

There is an increased incidence of Melanoma and decreased death. Majority of Melanoma cases are ____. What is a risk factor?

A

Majority are sporadic

- Severe sunburns early in life increases risk

43
Q

Males usually get Melanoma where?

A

Upper back

44
Q

Females usually get Melanoma where?

A

Legs

45
Q

Blacks and Asians usually get Melanoma where?

A

Soles/Palms, nail beds, mucosal membranes

46
Q

For Melanoma, what mutations will activate pro-growth signaling pathways?

A

RAS
BRAF
P13K/AKT

47
Q

What is the most commonly mutated gene in Melanoma and what does it activate?

A

TERT

- activates Telomerase

48
Q

What are the 2 growth phases of Melanoma?

A
  1. Radial growth

2. Vertical growth

49
Q

The Radial growth phase involves horizontal spread of melanoma in the epidermis. What does it lack?

A

Lacks capacity to metastasize

50
Q

The Vertical growth phase of Melanoma involves tumor cells invading down into deeper layers. What will likely appear?

A

Nodule with metastatic potential

51
Q

What is absent in the Vertical Growth phase of Melanoma?

A

Neurotization

52
Q

Breslow thickness

A

Depth of invasion - correlates with metastasis

53
Q

Breslow thickness measures between?

A

Epidermal granular layer
Deepest tumor cell
- Correlates with metastasis

54
Q

5 favorable prognoses for Melanoma

A
  1. Thinner tumor depth
  2. NO mitosis
  3. NO regression
  4. Lack of ulceration
  5. Brisk tumor infiltrating lymphocyte response
55
Q

5 favorable prognoses for Melanoma

A
  1. Thinner tumor depth
  2. NO mitosis
  3. NO regression
  4. Lack of ulceration
  5. Brisk tumor infiltrating lymphocyte response

SBL (48 decks)

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