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Robbins Pathology MSK (Chapters 24,25,26) > Chapters 24- Skin > Flashcards

Chapters 24- Skin Flashcards

1
Q

What is the alternative name for freckle

A

Ephelis

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2
Q

What is the hyperpigmentation seen in ephelis caused by

A

Increased in melanin pigmentation in the basal keratinocytes seen after sun exposure

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3
Q

How are ephelis differentiated from cafe Australia last spots

A

Cafe at lait spots (commonly seen in neurofibromatosis) appear independent to sun exposure

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4
Q

What are the feature of cafe at lait spots

A

Aggregated Melanosomes in the cytoplasm of melanocytes

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5
Q

What are the characteristics of lentigo

A
  • Benign Local hyperplasia of melanocytes

- Do not darken with sunlight

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6
Q

What condition is described histologically as :

-Linear (nonnested) melanocytes hyperplasia restricted to the cell layer immediately above the basement membrane

A

Lentigo

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7
Q

What condition is leniginous/lentigo seen in

A

Single layer proliferation in the basal cell layer during melanocytic tumors

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8
Q

Melanocytic Nevus aka moles are caused by distruption in which pathway

A

RAS signaling pathway

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9
Q

What is being described as:

  • tan-brown, uniformally pigmented
  • Flat macules or elevated papules
  • Well rounded borders
A

Melanocytic nevus aka moles

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10
Q

What is the location for junctional Nevi

A

Dermoepidermal junction

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11
Q

What are the locations of compound nevi

A

Nests or cords growing into underlying dermis (so nests in dermis and epidermis)

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12
Q

What is the location of intradermal nevi

A

No epidermal nests, usually older lesions

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13
Q

What is the the description of nests and their locations in melanocytic nevi aka mole

A

Superficially: large round cells with increased melanin
Deep: fusiform, nervelike look, much smaller

*Big pigmented cell in the deeper portions are more common with a melanoma

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14
Q

What is the stain commonly seen used to look at melanocytes

A

S-100

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15
Q

Dysplasia nevi are caused by mutations in which genes

A

NRAS and BRAF

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16
Q

Patients with dysplastic nevi are increased risk for which condition

A

Melanoma

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17
Q

What is the inheritance of dysplastic nevi syndrome

A

Autosomal dominant

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18
Q

What are patients with dysplastic nevus syndrome at increased risk for

A

> 50% develop melanoma by age 60

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19
Q

What are the physical and histological features of dysplastic nevi

A
  • Larger than acquired nevi
  • Irregular borders, variation in pigmentation
  • Melanin incontinence (loose melanin)
  • Ig nuclei, irregular angulated nuclear contour, hyperchromic is
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20
Q

Which condition leads to shouldering of the melanocytes and what is it

A

Dysplastic nevus

Shouldering: junctional component is >2 rete ridges beyond dermal component of the nevus

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21
Q

What is the most deadly of all skin cancers and what is the common cause

A

Melanoma caused by exposure to UV radiation in the sunlight leading to DNA damage

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22
Q

Which condition should be suspected if there is any pigmented lesion with a diameter >6mm, any change, itching or pain

A

Melanoma

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23
Q

What are the genes commonly seen to be disrupted in melanomas

A
  • CDKN2A (40% of familial cases)
  • BRAF (40-50% of cases)
  • TERT aka telomerase (70% of cases)***

Most common

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24
Q

Which condition should be suspected if there is HMB-45+ cell in the lymph node

A

Melanoma

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25
Q

Which condition should be suspected if there is prominent red nucleoli

A

Melanoma

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26
Q

What is meant by radial growth of a melanoma and what is its risk to metastasize

A

Horizontal spread

-lack of capacity to metastasize

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27
Q

What is meant by vertical growth of melanoma and what is the risk to metastasize

A

Downward invasion, has the ability to metastasize

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28
Q

What is the probability of a melanoma to metastasize and what is measured by

A

Probability is correlated with the depth of invasion, which is known as the Breslow thickness (distance from superficial epidermal granular layer to the deepest intradermal tumor cells)

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29
Q

If there is vertical growth of melanocytes, but neurotization is absent, which condition is suspected

A

Melanoma

*Melanocytic nevi if it is present

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30
Q

What are seborrheic keratosis

A

Benign epithelial tumors

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31
Q

What are the definition of dermatosis puluposa nigra

A

In people of color, multiple small lesions on the face (Morgan Freeman)

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32
Q

What are the physical features of seborrheic keratosis

A

Round, flat, waxy papule, tan brown

  • “stuck on” appearance
  • Horn cysts
  • Pore like Ostia impacted with keratin
  • “Coin like lesion”
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33
Q

Which mutation is seen in seborrheic keratosis

A

FGFR-3

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34
Q

What is the lesser-treat sign

A

-Paraneoplastic syndrome seen as a sudden appearance of large numbers of seborrheic keratosis

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35
Q

Which conditions are associated with acanthosis nigrans

A

Obesity and Diabetes

GI adenocarcinomas

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36
Q

What is cowden syndrome

A

PTEN mutation resulting in:

  • Multiple tricilemmomas
  • Increased risk for endometrial and breast cancer
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37
Q

What is the genetic defect in a patient with turban tumor

A

Aka cylindroma or adnexal Tumor

-CYLD

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38
Q

What are clindroma

A

Adnexal tumor that has ductal differentiation with forehead, scalp

“Aka jigsaw puzzle”

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39
Q

What eccrine poroma

A

Adnexal tumors where there are palms and soles and the sweat glands are located

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40
Q

What are syringoma

A

Adnexal tumors where the eccrine differentiation is on the lower eyelids

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41
Q

What are sebaceous adenoma

A

Adnexal tumor

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42
Q

What is Muir-Torre syndrome

A

DNA mismatch repair leading to:

  • Sebaceous adenomas
  • Hereditary nonpolyposius colorectal -carcinoma syndrome
43
Q

What is pilomatricoma and what is the genetic mutation

A

Adnexal tumor with follicular differentiation

*CTNNB1 mutation encoding Beta-catenin

44
Q

What is the mechanism that xeroderma pigmentosum can lead to melanomas

A

Defective nucleotide excision repair leading to mealanomas and other skin cancers

45
Q

Ghost cells are seen in which condition

A

Pilomatrixoma

46
Q

How can you tell the difference between a squamous and basal cell carcinoma histologically

A

Squamous cell will be pink (think keratin) while Basal cell will be blue

47
Q

What is the cause of actinic keratosis (AK)

A

Sun damaged skin, leading to hyperkeratosis

48
Q

What is the general appearance of actinic keratosis (AK)

A

<1 cm, tan-brown, red or skin colored, rough sand paper like consistency

49
Q

What condition can someone with actinic keratin be at risk for

A

Squamous cell carcinoma (SCC)

50
Q

Which other conditions can be seen as the result of the hyperkeratosis in actinic keratosis

A
  • Cutaneous horn
  • dyskeratosis
  • intracellular Bridges
  • blue-grey elastosis
  • Parakeratosis
51
Q

What is the amount of sunlight that matters in the case of squamous cell carcinoma

A

Total lifetime sun exposure

52
Q

Which form of skin cancer has the propensity to metastisize

A

Squamous cell carcinoma

53
Q

Which conditions place a patient at a higher risk for developing squamous cell carcinoma

A
  • Immunosuppression, chemo, organ transplant
  • Epidermodysplasia verruciformis (AD, associated with HPV)
  • Tabacco and betel nut
  • Cutaneous squamous cell carcinoma
54
Q

Which mutation is commonly seen in those with squamous cell carcinoma of the skin

A

TP53

55
Q

What is the link between squamous cell carcinoma and xeroderma pigmentosum

A

INherited mutation in the nucleotide excision repair pathway increases the risk for SCC

56
Q

How are squamous cell carcinomas in situ of the skin presented

A
  • Sharply defines, red, scaling plaques

- atypical nuclei at all levels of the dermis

57
Q

What is the histological findings in the case of squamous cell carcinoma

A 
Anaplastic cells (looks like nothing normally there)
-Dyskeratosis (Single layer of keratinization)
58
Q

What is the propensity for basal cell carcinoma to metastasize

A

Very rare, slow growing tumor

59
Q

Which pathways are seen to be dysfunctional in basal cell carcinoma

A

Hedgehog signaling, PTCH **

60
Q

What is the inheritance of Nevoid basal cell carcinoma syndrome (NBCCS)

A

Aka Gorlin syndrome

Autosomal dominant

61
Q

What conditions are those with Gorlin syndrome at risk for

A

Aka nevoid basal cell carcinoma syndrome (NBCCS)

  • Multiple basal cell carcinomas before the age of 20
  • Medulloblastoma
  • Ovarian fibroma
  • odontogenic keratocysts
62
Q

What is the description of appearance for basal cell carcinomas

A

Pearly papules, telangiectasias, rodent ulcers

63
Q

What are the histological findings in the cause of basal cell carcinomas

A
  • Basophilic/basaloid cells
  • Hyperchromatic nuclei
  • Peripheral palisading
64
Q

Which condition is indicated by the dimple sign

A

Dermatofibroma

65
Q

What is the common finding in the history of a patient with dermatofibroma

A

Young-middle aged women with an antecedent trauma

66
Q

Which cells are present in a dermatofibroma

A

Factor 8a postive dermal dendritic cells

67
Q

What are the physical characteristics of a dermatofibroma

A
  • Firm, tan-brown papule
  • <1 cm
  • Becomes flattened with time
68
Q

What is the histological findings with a dermatofibroma

A

Benign spindle shaped cells, well defined, non-encapsulated mass in the mid dermis

-Pseudoepitheliomatous hyperplasia

69
Q

Which gene is mutated in dermato fibrosarcoma protuberans (DFSP)

A

COL1A1 and PDGFB

70
Q

What are the characteristics of the dermatofibrosarcoma protuberans

A

“Protuberant” nodule, well differntiated, slow growing, locally aggressive and can recur

71
Q

What is the histological finding indicative of dermatofibrosarcoma protuberans

A

Storiform, aka packed fibroblasts in the shape of pin wheels blades, or swarms of fish

*May contain a honeycomb pattern that extensors into the subQ fat (Swiss cheese look)

72
Q

What is the cell type seen in the skin with mycosis fungicides

A

CD4 T cells

73
Q

What is Sezary syndrome

A

Erythrderma, diffuse erythema, scaling over the body associated with mycosis fungoides

74
Q

What are the characteristics of Sezary cells

A
  • Folded nuclear membrane withe hyperconvoluted or cerebriform contour
  • Band like aggregates within the superficial dermis **
75
Q

During mastocytosis, which products are being released

A

Mast cell degranulation results in the release of histamine, heparin

76
Q

Patients with mastocytosis are at an increased risk of developing which condition

A

Osteoporosis

77
Q

Which gene is commonly seen to be mutated in mastocytosis

A

KIT receptor tyrosine kinase

78
Q

What is darier sign

A

Localized area of dermal edema and wheal when the skin is rubbed in pts with mastocytosis

79
Q

Which stain can be used to seen cells in mastocytoma

A

Giemsa sign

80
Q

Which condition is characterized by fish like scales

A

Ichthyosis

*Due to the impaired epidermal maturation leading to excessive keratin buildup

81
Q

Acute eczematous dermatitis is characterized by which cell

A

T cell mediated Type 4 hypersensitivity rxn (Poison ivy urushiol)

82
Q

Erythema multiforme is characterized by which cell

A

CD8 T cells

83
Q

Which condition is characterized by targetoid lesions

A

Erythema multiforma with CD8 cells causing apoptosis

84
Q

Which condition is characterized by scalp, forehead macules/papules on an erythematous yellow, greasy base that is associated with crusting and scaling

A

Seborrheic dermatitis

85
Q

Which condition is characterized by pink to salmon colored plaque covered by loosely adherent silver scale

A

Psoriasis

86
Q

Which alleles are assocaited with psoriasis

A

HLA-C

HLA-Cw*0602

87
Q

What is koebner phenomenon

A

Psoriatic lesions in patients by local trauma that starts a self perpetuating local Inflammatory process

88
Q

Which conditions is charactertic rete ridges with “tubes in a rack” with regards to histology

A

Psoriasis

89
Q

Those patients with lichen planus are increased risk for which condition

A

Squamous cell carcinoma

90
Q

What are the characteristic findings in lichen planus

A

6 “Ps”

  • Pruritic
  • Purple
  • Polygonal
  • Planar
  • Papules
  • Plaques
91
Q

What are Wickham striae and which condition is it seen in

A

Papules highlighted with white dotes, created by areas of hypergranulosis in highly pigmented individuals

92
Q

What is the cause of pemphigus

A

Autoantibodies dissolution of intracellular attachments with the epidermis and mucosal epithelium

93
Q

What is the prognosis of pemphigus

A

Fatal if untreated

94
Q

What is the findings in pemphigus

A

Net like pattern of intercellular IgG deposits (disrupt intracellular adhesions leading to blisters)

95
Q

What is the most common location for pemphigus

A

Pemphigus vulgaris (80%) which is the scalp, face, groin, trunk, points of pressure

*Leads to shallow erosions with dried serum and crust

96
Q

Patients with pemphigus are at higher risk of which conditions

A

Associated with paraneoplastic conditions: malignancies, NHL, lymphoid neoplasms

97
Q

Bulbous pemphigus is commonly seen in which patients and in which locations

A

Inner thighs, flexor surfaces of forearms, axillary, groin and lower abdomen of elderly pts

98
Q

What are the antigens present in bulbous pemphigoid

A

BPAGS

99
Q

What are the characteristics of bollous pempohigoid

A

Do not rupture easily, subepidermal

100
Q

Dermatitis herpetiformis is associated with which conditions

A
  • Celiac

- IgA autoantibodies to gluten

101
Q

Patients with antibodies to gluten cross react with what

A

Reticulin leading to subepidermal blister

102
Q

Porphyria is associated with which findings

A
  • Disturbances in the porphyrin metabolism, which are normally found in HbG, myoglobin, cytochromes
  • Uticaria and vesicles associated with scarring and exacerbation by sunlight
103
Q

Erythema nodosum is associated with which conditions

A
  • Beta hemolytic strep infections
  • TB
  • Sulfonamides

Robbins Pathology MSK (Chapters 24,25,26) (7 decks)

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