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
What is Hyperkeratosis
Thickening of the Stratum Cornea due to the abnormal quanity of keratin
Actinic Keratosis can be a precursor for ___
Squamous Cell Carcinoma
A pt presents with a rough sand paper like lesion that progresses to a brown erythematous scaly lesion. this is characteristic of ____
Actinic Keratosis
Characteristics of Actinic Keratosis (5X)
1) Sand paper-like consistency
2) Cutanous Horn
3) Dyskeratosis
4) Solar Elastosis: Blue Gray Elastosis
5) Parakeratosis
What is Dykeratosis?
When it is assocaited with increased abnormal elastosis fibers due to UV damage, and the retention of nuclei in the stratum corneum, then what is the diagnosis.
1) Pink Cytoplasm and keratinzation of a premature individual cell
2) Actinic Keratosis .
A pt comes in with a lesion on the lip. there is a cutaneous horn and blue grayish appearance. The pathologist gets a biopsy to make sure that it isn’t malignant. What cancer is the pt at risk for? What is the Diagnosis?
1) Squamous Cell Carcinoma
2) Actinic Cheilitis
Squamous Cell Carcinoma is associated with ___ and ___ (oncogene virus)
HPV 5 and 8
SCC is more common __ of th elip and normall presents as a ____less nonhealing bleeding ulcer.
1) South
2) Pain
SSCC is caised by UV light –> ___ damage
DNE
_____ is HPV indicated and increased risk of SCC. It is often seen in immunosuppressed patients.
1) Epidermodysplasia
List the aquired mutation in SCC
1) TP53
2) RAS
3) Notch Signaling
Notch signaling is ___ in Squamous cell carcinoma
Decreased
Dykeratosis in Squamous cell carcinoma is characteristic of ( insitu/invasive)
Invasive
Chacteristics of invasive SCC
1) Nodular
2) Keratin Produciton (Hyperkeratotic Scale)
Characterize in Situ SCC (2X)
1) Sharply defined red scalling plaques
2) Enlarged and hyperchromatic nuclei in all layers of epidermis
What is the most common invasive cancer of skin
Basal Cell Carcinoma
___ is slow growing and rarely metz. It is also associated with mutations in hedgehog signaling and PTCH
Basal Cell Carcinoma
What genes are disrupted in Basal Cell Carcinoma
1) Hedgehog Signaling
2) PTCH
Characterics of basal Cell Carcinoma (5x)
1) Pearly Papules
2) Teleangiectasias
3) Rodent Ulcers
4) Peripheral Palisading
5) Cleft Seperating nest from adjacent stroma
What is peripheral palisading
Arranged radially with long axes in parallel alignment
Benign Fibrous Histiocytoma is also known as ___
Dermatofibroma
Population of Dermatofibroma
Adult Women on Legs
Dermatofibroma have an association with a history of _____ trauma
antecedent
A Positive ___ sign will be present with a Benign Fibrous Hisyiocytoma or Dermatofibroma
Dimple
List Histo characteristics of Dermatofibroma: (2x)
1) Benign Spindle-shaped cells and non-encapsulated mass in mid dermis
2) Pseudoepithliomatous Hyperplasia
- Epidermal Hyperplasia w/ downward elonation of hyperpigmented rete ridges
____ is a fibrosarcoma of the hand that is well differentiated
Dermatofibrosarcoma Protuberans (DFSP)
What genes are mutated in Dermatofibrosarcoma Protuberans
COL1A1
PDGFB
How does Dermatofibrosarcoma Protuberans present
Protuberant Nodule
Histological Characteristics of Dermatofibrosarcoma Protuberans
1) Storiform
2) Thinned epidermis
3) Honeycomb Pattern
What is storiform?
Closely packed fibroblasts arrnged radially (blades of pinwheel)
Pt has a protuberant nodule. Upon evaluation by a pthologist, they find that there are closely packed fibroblasts arranged radially that look like blades of pinwheel. What other two features will be present?
What is the Syndrome?
1) Thinned Epidermis
2) Honeycomb Pattern
3) Dermatofibrosarcoma Protuberans (DFSP)
___ is deep extension from the dermis into the subQ fat. This is seen in Dermatofibrosarcome Protuberans (DFSP)
Honeycomb Pattern
What is one charteristical differnce between Dermatofibrosarcoma Protuberans (DFSP) and Dermatofibroma.
Thinned Epidermis in Dermatofibrosarcoma Protuberans (DFSP)
___ is a cutaneous T-cell lymphoma
Mycosis Fungoides
A pt presents with scaly, red-brown patches, raised scaling plaques, and fungating nodules. A histological analysis is performed and it is indicated that CD4+ Tcells are the culprit. If the spread continues to the blood, what symptoms will present?
Erythoderma
Characterize Erythroderma
Diffuse erythema and scaling of entire body surface
Sezary Syndrome is characterised by ____ cells with a ___ nuclei.
Sezary Cell
Cerebriform Nuclei
Py presents with eczema like lesions, but a couple years later they present with multiple tumor nodules and erythema/scaling of the entire body. Up on Histologic analysis there is small clusters of CD4+ T cells in the epidermis and cells with cerebriform nuclei. What other component will be present?
What are the cell aggregates called?
What are the cell names called?
Band-like aggregates with in superficial dermis \
Pautrier Microabcesses
Sezary Cells
Describe the prognosis of the Mycosis Fundgoides (2x)
1) % of body surface invaded
2) Progression from patch –> plaque –> nodule
___ is an increase of mast cell accumulation in skin of cells in epidermis `
Mastocytosis
List two types of mastocytosis
1) Urticaria Pigmentosa
2) Solitary Mastocytoma
___ are cutaneous forms of increased mast cell accumulation normally seen in children
Urticaria Pigmentosa
A 3yo patient has multiple round-oval nonscaling plaques. A resident physician rubbed the skin and the localized edema and erythema presented. What other sign would be positive? what is the Disease.
1) Dermatographism - area of dermal edema resembling a hive, resulting from local stroking skin w/ pointed instruent
2) Urticaria Pigmentosa
What is Darier Sign
Localized area of dermal edema and erythema when skin rubbed
A child presents with a pink-tan brown nodule the progresses to a blister. Durier Sign is present. What gene is mutated and what is the Dx?
1) KIT
2) Solitary Mastocytoma
KIT encodes for ____ that promotes __ growth and survival
1) Tyrosine Kinase
2) Mast Cell
What are some signs that Mastocytosis is now systemic? (5X)
1) Puritis and Flusing
2) Rhinorrhea
3) GI or Nasal Bleeding
4) Bone Pain
5) Osteoporosis in premopausal women or men
What causes bleeding in systemic mastocytosis
Heparin Anticoagulate Effect - Relased by Mast Cells
Bone pain is a sign of Systemic Mastocytosis due to____
Mast Cell infiltrating bone marrow
a ___ stain is performed when Mastocytosis is sus. because of ___ granules of Mast Cells.
1) Giemsa
2) Metachromatic
Pt presents with fish-like scales and no inflammation. What is the pathophysiology of the fish-scales?
What is the diagnosis
Defective DeSquamation along with chronic keratin buildup(hyperkeratosis)
Ichthyosis
Another name for Urticaria is
Hives
Antigen dependent localized mast cell degranulation leading to dermal microvascular hyperpermeability and angioedema, is characteristic of ____
Urticaria (Hives)
Physical manifestations of Hives
1) Wheals
2) Angioedema
What is Angioedema
Edema of the deeper dermis and subq fat.
What are wheals.
Prurtic edematous plaques
A pt with pruritic edematous plaques and Clear spaces between collagen and diulted lymphatics in a histological analysis will also present with what clinical feature?
What is the diagnosis
Angioedema
Hives (Urticaria)
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Acute Eczematous Dermatitis Presentation
1) Red
2) Papulovesicular
3) Oozing and crusted lesion
PAthogenesis of Acute Eczematous Dermatitis (2x)
1) External Ag or Ingested Food/Drug.
2) T Cell mediated inflammatory Rxn (Type IV HS)
___ is the active agent in posion ivy and oak that leads to Acute Eczematous Dermatitis
Urushiol
Acute Eczematous Dermatitis histologically will present with edema in intracellular spaces in statum spinosum (known as what?) and keratinocytes with nuclei (known as what?)
1) Spongiosis
2) Parakeratosis (+nuclei)
Etiology of Erythema Multiforme (4x)
1) Infection
2) Drug
3) Cancer
4) Collagen Vascular Disease
Pathogenesis of Erythema Multiforme
1) CD8+ cytotoxic T lymphocytes induced damage of Keratinocytes
pts with Erythema Multiforme will present with ___ lesions
Targetiod Lesions
What are the subtypes of Erythema Multiforme? (3X)
1) Interface Dermatitis
2) Stevens-Johnsons
3) Toxic Epidermal Necrolysis
Interface Dermatitis is a subtype of ____. List the Histological features of interface dermatitis. (3x)
1) erythema multiforme
2) Dermal Edema
3) Lymphocyte infiltration along D-E junction
4) Degenerating Keratinocytes
Stevens-Johnsons is commonly seen in ___. What areas does it affect? (5X)
1) Children
2) Skin + Oral Mucosa
3) Conjunctiva
4) Urethra
5) Genital and Perianal Areas
____ is a form of Erythema Multiforme and will resemble extensive burns
Toxic Epidermal Necrolysis
What is the pathophysiology of Toxic Epidermal Necrolysis
1) Necrosis and Sloughing off of eutameous and mucosal epithelial
Psoriasis, Seb Dermatitis, and Lichen Planus are ___ inflammatory dermatoses
Chronic
Parakeratosis is seen in diseases that have ___ cell turnover.
Rapid
Psoriasis is an ____ disorder that can physically present with: (4x)
1) Autoimmune
2) Pink to salmon colored plaque covered by loosely adheret silver scale
3) Pitting nails and yellow-brown discoloration
4) Oncolysis
5) Auspitz Sign
Pt presents with minute bleeding when a scale is lifted from plaque.
1) what is the sign called?
2) describe 3 other signs that will be present
3) What is the diagnosis?
1) Auspitz Sign
2) Pink to Salmon colored Plaques with loosely adherent sulver scales
3) Pitting nails
4) Oncolysis - Seperation of nail plate from underlying bed
5) Psoriasis
What is oncolysis
Seperation of nail plate from underlying bed
Psoriasis can be triggered by local trauma that leads to self perpetuating local inflammtory response. This is known as
Koebner Phenomenon
What is the histology of psoriasis
1) elongation of rete ridges “test tubes in a rack”
2) Parakeratotic Scale
Histology slide of parakeratosis
Psoriatic plaque histology
Seborrheic Dermatitis is seen in regions of increased ____ glands
Sebaceous
Seborrheic Dermatitis is an inflammation of ____ not a disease of ___
1) Epidermis
2) Sebaceous
Pt with resting tremors is worried about a rash that is located on their scalp. Histologically there is increased parakeratosis containing neutrophils and serum at hair follicle. There is increased sebum due to ___ def. What is the diagnosis of their skin condition
1) Dopamine
2) Psoriasis
Follicular lipping is associated with _____ dermatitis
Seborrheic
Physical Manifestations of Seborrheic Dermatitis: (3X)
1) Erythematous-yellow. greasy base
2) Scaling and Crusting
3) Dandruff
____ is charterized by purple, pruitic, polygonal, planal, papule, and plaques
Lichen Planus can lead to ____
SCC
What are the two diseases that are associtated with Koebner Phenomenon
1) Lichen Planus
2) Psoriasis
Saw tooth and cavatte bodies are associataed with _____ planus
Lichen
Clinical Manifestation of Lichen Planus
1) Itchy violaceous flat topped papules
2) Wickham Striae - papules highlighted with white created by areas of hypergranulosis (Mucosa)
Wickham Striae is normally presents in
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Oral Mucosa
What are the types of blistering diseases
1) Pemphigus
2) Bullous Pemphigoid
3) Dermatitis Herpetiformis
What are the two categories of blistering diseases
1) Inflammatory
2) Non-Inflammatory
How do you diagnosis Blistering Diseases
1) Histological assessment
Pathophysiology of Pemphigus
1) IgG autoantibodies disrupt intracellular IgG deposites
Types of pemphigus (5s)
1) Vulgaris
2) Vegetans
3) Foliacus
4) Erylhomatosus
5) Paraneoplastic
Squamous cells be come ___ in pemphigus
round
Location of Pemphigus Vulgaris
1) Mucosa and pts of pressure
What is the pathophysiology of Pemphigus Vulgaris
1) Sepertion above basal layer
Upon histological analysis a lesion has fishnet like patterns with tombstone apperance of the epidermis. What is the pathophysiology of this disease?
What is the disease?
1) Seperation above the basal layer
2) Pemphigus Vulgaris
the vesicles in pemphisgus vulgaris are easy or hard to break
easy
Pemphigus ___ is a large moist verrucous (wart-like) studdent with pustules
Vegetans
Pemphigus Foliacus is common in ____. an presents with ____
1) Brazil
2) Erythema and Crusting
An elderly pt presents with a nonacantholytic blister. She noticed that the blister will not rupture. What is the pathophysiology of this disease.
Where would this blister most likely be located?
Subepidermal seperation
Flexor Surfaces
A pt presents with grouped lesions on extensor surfaces. This pt also has lower GI issues. what is the name of the skin condition disease. what is the name of the GI disease in association?
1) Dermatitis Herpetiformis
2) Celiac Disease
Ig__ antibodies can cross react with ___ in celiac disease and cause a ___ blister when gluten intake is high.
1) IgA
2) Reticulin
3) Subepidermal
Epidermolysis Bullosa pathophysiology
inherited Structural defects
____ are blisters at sites of pressure, rubbing, or truama at birth or soon after
Epidermolysis Bullosa
Where does porphyrin skin lesions typically occur histological
Dermoepidermal junction
Rosacea occurs in middle aged ___ and has 4 stages. What are the 4 stages?
1) Females
2) Flushing
3) Persistent Erythema and Telangiectasia
4) Pustules and Papules
5) Rhinophya
Pathophysiology of Rosacea
Increased Cathelicidin (Antimicrobial peptide)
What is the most common form of panniculitis
Erythema Nodosum
____ is inflammatory reaction in the subQ adipose tissue
Panniculitis
A pt comes in with tender erythematous plaques and nodules on the legs. When palpated they feel ropy. what is the likely agent tha tis causing this skin condition?
Will These lesions scar?
1) Beta- Hemolytic Streptococcal Infection
2) NO - they will transition into flattened bruise like lesions w/o scarring
Pathophysiology of Erythema Nodosum and B-Hemolytic Strep Infection
Delayed Hypersensitvity Reaction to microbial or drug related antigens
Erythema Induratum is a form of ____ and is commonly seen in ____ and _____ females
1) Panniculitis
2) Adolescent
3) Menopausal Females
A pt comes in with primary vasculitis of the deep vessels with in the SubQ leading to Fat necrosis and inflammation. Describe what the lesion looks like and name the disease/
1) Erythematous Nodule that Ulcerates
2) Erythema Induratum
____ is a relapsing fevrile nodular panniculitis
Weber-Christian Disease
Weber-Christian Disease is seen in ___ and ____. This disease is a non-____ panniculitis.
Vasculitis
Where is weber-christian normally found
LE
Describe what Panniculitis looks like histologically (3x)
Aggregates of
1) Foamy Macrophages
2) Lymphocytes, Neutrophils
3) Giant Cells
