Dermatopathology - Martin Flashcards
Freckle (Ephelis) Etiology
Sun Exposure
Pathophysiology of Freckle
Increased Melanin
Pathophysiology of Cafe au lait spots
Macromelanosomes w/ melanocyte cytoplasm
___ is a benign localized hyperplasia of melanocytes immediately above basement membrane
Lentigo
When does lentigo normallyy begin?
Childhood
Elongation of ___ are common in lentigo
Rete Ridges
Melanocytic Nevus (mole) can either be a ___ or a ___
Macule or Papule
a Nevus is going to have well defined ___ and ___ pigmented
1) Borders
2) Uniformly Pigmented
What are the mutations in a benign melanocytic nevus (mole)
1) RAS
2) BRAF
What are the 3 phases of a mole
1) Junctional
2) Compound
3) Intradermal
Dysplastic Nevi is a precursor to ___
Melanoma
What two mutations are commonly seen in Dysplastic Nevi
1) CDKN2A
2) CDK4
CDKN2A gene codes for ___ and ___ which are tumor suppressors.
1) p16
2) p14
CDK4 allows progression from ___ to __ phase in cell cycle
1) G1
2) S
A Dysplastic Nevi is larger than a ___ nevi, so greater than 5mm
Aquired
What are some characteristics of a Dysplastic Nevi. (5X)
1) Variegated Pigmentation, irregular borders of lesions
2) Lentiginous Hyperplasia
3) Atypia
4) Lymphocytic Infiltration in Dermis and Melanin Incontence
5) Linear Fibrosis around Rete Ridges
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Melanoma is cause by
Sun Exposure (UV radiation) –> DNA Damage
What are the Risk Factors of Melanoma? (5X)
1) Light Complexion, hair, eyes
2) Hx of blistering sunburns
3) FHx of melanoma or dysplastic nevi
4) Precursor Lesions Congenital or Dysplastic Nevi
5) Xeroderma Pigmentosum
Sites of Presentations of Melanoma
1) Upper Back - Males
2) Legs - Women
3) Soles, Mucous Membranes, Palms, Nail Bed - Blacks and Asains
Clinical Features of Melanoma (ABCDEs)
1) Asymmetry
2) Irregular Borders
3) Variegated Color
4) Increased Diameter
5) Evolution Change over Time
What is a concerning sign of melanoma when a pt has a mole?
1) Diameter >6mm
2) Itching or Pain
What is the most common mutation associated with Familial Form of Melanoma.
How is it Inherited
1) CDKN2A
2) Autosomal Dominant
List 4 other genes (Other than CDKN2A) that are associated with melanoma
1) RAS
2) PI3K/AKT
3) BRAF
4) TERT
What is the most common gene associated with Melanoma? What advantage does it give it?
1) TERT
2) Telomerase - Reverse trasncription that adds DNA telomeres to 3’ end
- Enables replicative immortality
List the Characteristic of Histology in regards to Melanoma
1) Lymphcyte Infiltration
2) Abnormal Mitosis
3) Aggregates of infiltrating Cells
4) HMB-45+ Cells in Lymph Node
5) Red Nucleoli
List the two growth phases of melanoma
1) Radial
2) Vertical
Vertical Growth in melanoma is indicated by
Nodule
Types of melanoma associated with radial growth
1) Lentigo Maligna
2) Superficial Spreading
3) Acral/Mucosal Lentigious
Mealnoma: ___ is the most common type usually involving sun exposed skin and prolonged horizontal growth
Superficial Spreading
Melanoma: ___ is slow growing melanoma on old men faces and is usually painless
Lentigo Maligna
Melanoma: ___ is melanoma unrelated to sun exposure
Acral/Mucosal Lentiginous
__- is the distance from superficial epidermal granular cell layer to the deepest intradermal tymor cells
Breslow Thickness
What is the most important prognostic factor when concerning Melanoma
Breslow Thickness
___ is a round flat, coinlike, waxy papule that can be tan-dark brown.
Seborrheic Keratoses
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Seborrheic Keratosis has a ____ apperaence and a ___ plug
1) Stuck on
2) Keratin
What is the activating mutation in Seborrheic Keratosis
FGFR-3
____ is a paraneoplastic syndrome with sudden appearance of a large number of Seb K
Leser-Trelat Sign
Leser-Trelat Sign is associated with carcinoma of the ___
GI
In Seborrheic Keratosis there is increased proliferation of ____ and ___ which causes ___ or Keratin filled cysts
1) Keratinocytes
2) Hyperkeratosis
3) Horn-Cysts
List the Charteristics of Acanthosis Nigricans (2X)
1) Thickened
2) Hyperpigmented Skin w/ velvey-like texture in flexure areas
Acanthosis Nigricans is associated with which diseases: (4X)
1) Type II Diabetes
2) Cushing Syndrome
3) Polycystic Ovarian Syndrome
4) Obesity
Describe the Pathogenesis of Acanthosis Nigricans
1) Increased Growth Factir Receptor Signaling in Skin
- increases epidermal and fibroblast proliferation
The familial form of acanthosis nigricans is associated with what mutation?
FGFR3
List some locations where you might see Acanthosis Nigricans
1) Axilla
2) Groin
3) Neck
What are two other names for Skin Tag
1) Fibroepithelial Polyp
2) Acrochordon
Where will you find skin tags
Intertriginous Areas
List 3 associations with Fibroepithelial polyp
1) Diabetes
2) Obesity
3) Intestinal Polyposis
What are the physical characteristics of Fibroepitelial Polyp (3X)
1) Soft
2) Flesh Colored
3) Bay-like tumors often attached by slender stalk
What is the core of a Fibroepithelial Polyp
1) Fibrovascular covered by benign squamous epithelial
____ are rare polyps and parifollicular mesenchymal tumors via fibroblasts. This Syndrome is also associated with Renal Cancer
Birt-Hogg-Dube Syndrome
___ is an invagination and cystic expansion of the epidermis or hair follicle
Epithelial Inclusion Cyst (Wen)
Rupture of a Wen causes ___ to spill into the dermis causes ___ inflammatory response
1) Keratin
2) Granulomatous
When a Wen ruptures there will be increased aggregations of ____ causing an inflammatory response.
Macrophages
PTEN mutation is associated with ____ and ___ cancer
1) Endometrial
2) Breast
What pathway does PTEN regulate
PI3k/AKT
___ multiple trichilemmomas due to loss of PTEN function
Cowden Syndrome
___ proliferation of basaloid cells that form primitive structures resembling hair follicles
Trichilemmomas
pts with multiple trichilemmomas due to a loss of PTEN have increased risk of____ and ____ cancer.
What Syndrome is this associated with?
1) Endometrial
2) Breast
3) Cowden Syndrome
___ is caused by ductal differentiation on forehead or scalp
Cylindroma “Jigsaw Puzle”
Cylindromas can form ____
Turban Tumors
___ Hat like growth due to CYLD
Turban Tumor
CYLD is a ___ gene
Tumor Suppressor
____ is associated with Familial Trichoepithelioma and Brooke-Spriegler
CYLD
___ is a benign sweat gland tumor that occurs on palms and soles where there are increased sweat glands
Eccrine Poroma
___ is a benign sweat gland eccrine tumor due to eccrine differentiation, small tan papules of lower eye lid
Syringoma
Muir-Torre Syndrome is a form of ____
Lynch Syndrome
___ is a hereditary nonpolyposis colorectal carcinoma syndrome
Lynch Syndrome
Lymch Syndrome is due to _____
DNA Mismatch Repair Enzymes
Muir-Torre is a ___ adenoma
Sebaceous
____ is a benign hair tumor due to ___ differentiation.
1) Pilomatricoma
2) Follicular
____ mutation is associated with Pilomatricoma. It encodes for ___.
1) CTNNB1
2) B-catenin
Ghost Cells are characteristic of ____
Pilomatricoma
What gene is mutated in Nevoid basal cell carcinoma syndrome
PTCH
How does Nevoid basal cell carcinoma syndrome manifest
1) Multiple basal cell carcinomas
2) Medulloblastoma
3) Jaw Cyst
What is the most common malignant brain tumor in children
Medulloblastoma
A patient has multiple basal cell carcinomas at a young age. This patient should be check for ___.
Why?
What gene is likely to be Mutated?
What is the Syndrome.
1) Medulloblastoma
2) Most common malignant brain tumor in children and associated with this disease
3) PTCH
4) Nevoid Basal Cell Carcinoma Syndrome
A pt with a FHx melanoma will probably have a mutation of which gene?
As a physician you are concern that this pt may develop ___ carcinoma in the future.
1) CDKN2A
2) Pancratic Cancer
____ is mutated in Muir-Torre Synrome
MSH2 (DNA mismatch repair enzyme)
Actinic Keratosis is benign or premalignant?
premalignant
___ is characterized by hyperkeratosis on the face, arms, dorsum of hands
Actinic Keratosis