DermPath- Dr. Martin Flashcards
excoriation
Traumatic lesion breaking the epidermis and causing a raw linear area (i.e., deep scratch); often self-induced
Name the 5 Disorders of Pigmentation & Melanocyteses
- Freckles
- Lentigo
- Melanocytic nevus
- Dysplastic nevi
- Melanoma
A child presents with a 1mm, tan-red macule. The macule changes shade with season changes and is caused by hyperpigmentation (Inc melanin). What is the dx?
Freckle (ephelis)
What is a type of freckle that arises independently of sun exposure? Has a neurological source (neurofibromatosis)
Café au lait
What do café au lait spots contain?
Macromelanosomes (aggregated melanosomes in the cytoplasm of melanocytes)
Plaque
Elevated flat-topped lesion, usually greater than 5mm across (may be caused by coalescent papules)
Pustule
Discrete, pus-filled, raised lesion
Scale
Dry, horny, platelike excrescence; usually the result of imperfect cornification
Vesicle, Bulla, Blister
Fluid-filled raised lesion 5mm or less across (vesicle) or greater than 5mm across (bulla). Blister is the common term for either.
Wheal
Itchy, transient, elevated lesion with variable blanching and erythema formed as the result of dermal edema
Name the 5 Disorders of Pigmentation & Melanocytes
- Freckles
- Lentigo
- Melanocytic nevus
- Dysplastic nevi
- Melanoma
Acanthosis
Diffuse epidermal hyperplasia
Dyskeratosis
Abnormal, premature keratinization within cells below the stratum granulosum
Erosion
Discontinuity of the skin showing incomplete loss of the epidermis
Exocytosis
Infiltration of the epidermis by inflammatory cells
Hydropic swelling (ballooning)
Intracellular edema of keratinocytes, often seen in viral infections
Hypergranulosis
Hyperplasia of the stratum granulosum, often due to intense rubbing
Hyperkeratosis
Thickening of the stratum corneum, often associated with a qualitative abnormality of the keratin
Lentiginous
A linear pattern of melanocyte proliferation within the epidermal basal cell layer
Papillomatosis
Surface elevation caused by hyperplasia and enlargement of contiguous dermal papillae
Parakeratosis
Keratinization with retained nuclei in the stratum corneum. On mucous membranes, parakeratosis is normal.
Spongiosis
Intercellular edema of the epidermis seen in eczema
Ulceration
Discontinuity of the skin showing complete loss of the epidermis revealing dermis or subcutis
Vacuolization
Formation of vacuoles within or adjacent to cells; often refers to basal cell-basement membrane zone area
A child presents with a 1mm, tan-red macule. The macule changes shade with season changes, and is caused by hyperpigmentation (Inc melanin). What is the dx?
Freckle (ephelis)
What is a type of freckle that arises independently of sun exposure? Has a neurological source (neurofibromatosis)
Café au lait
What do café au lait spots contain?
Macromelanosomes (aggregated melanosomes in cytoplasm of melanocytes)
What is a disorder of pigmentation that is initiated in childhood/infancy that has to do with benign localized hyperplasia of melanocytes?
Lentigo
What skin lesion has…?
- uniform pigmentation
- well-defined rounded borders
- 3 forms (junctional, compound, intradermal)
- benign histology
- can be flat macules or elevated papule
Melanocytic nevus (mole)
Histology of lentigo
restricted to basal cell layer
Where do compound nevi nest?
in epidermis and dermis
junction + derm
Histology of lentigo
restricted to basal cell layer
Describe melanocytic nevi in the superficial, deeper, and deepest layers.
▪Superficial = nests, large-round cells, ↑ melanin
▪ Deeper = cords or single cells, smaller cells, ↓pigment
▪ Deepest: fusiform, fascicles resembling neural tissue (MELANOMA)
▪ Helpful in differentiating benign nevi from melanoma
dysplastic nevus syndrome has what genes that are mutated?
CDKN2A or CDK4
What cancer occurs at all ages, in skin and uvea of the eye, is cured surgically, and requires biopsy*?
(Biopsy of the center of cell as well as the periphery because the cells in the center are dead- not useful in diagnosing this cancer.)
Melanoma
Melanoma has a high incidence. What therapy has contributed to the downward trend in death rates?
Reflects the effectiveness of immune checkpoint inhibitor therapy.
Describe melanocytic nevi in the superficial, deeper, and deepest layers.
▪Superficial = nests, large-round cells, ↑ melanin
▪ Deeper = cords or single cells, smaller cells, ↓pigment
▪ Deepest: fusiform, fascicles resembling neural tissue
▪ Helpful in differentiating benign nevi from melanoma
How do the nuclei in dysplastic nevi change in size as they go deeper
Some of the nuclei of the melanocytes get larger as they go deeper; which is why it’s “dysplastic growth”
What is the most deadly skin cancer that is acquired through UV radiation from sunlight (DNA damage)?
Melanoma
can radial growth of melanoma metastasize?
nope
Melanoma has a high incidence. What therapy has contributed to the downward trend in death rates?
Reflects the effectiveness of immune checkpoint inhibitor therapy.
Do males or females have melanomas in their upper backs?
Males
What driver mutation in melanoma activates telomerase?
TERT (most common)
What kinase do growth factors activate the signaling circuits of? Melanoma
Tyrosine Kinase (KIT)
What is the stain for melanoma cells in lymph nodes?
HMB-45+
FYI: it is a monoclonal antibody that stands for Human Melanoma Black
Dysplastic nevi often require activating mutations in
NRAS and BRAF genes
dysplastic nevi are larger than
5 mm
Histo characteristics of dysplastic nevi
Variegated pigmentation
irregular borders of lesions
Enlarged epidermal nests that may coalesce with other nests
Lentiginous hyperplasia: single nevus cells replace basal cells along E-D junction
Atypia: lg nuclei, irreg angulated nuclear contour, hyperchromasia
Lymphocytic infilt of superf dermis, melanin incontinence (loose melanin)
Linear fibrosis surrounds epidermal rete ridges
How do the nuclei in dysplastic nevi change in size as they go deeper
Some of the nuclei of the melanocytes get larger
What driver mutation in melanoma disrupts cell cycle control genes?
Mutation in CDKN2
(fyi: encodes p15, p16, ARF) –> tumor suppressor genes
What driver mutation in melanoma activates pro-growth signaling pathways? And is the target of drug treats!
Increased RAS & P13K/AKT signaling
mutation in BRAF
What driver mutation in melanoma activates telomerase?
TERT (most common)
What kinase do growth factors activate the signaling circuits of? Melanoma
Tyrosine Kinase (KIT)
What is the stain for melanoma cells in lymph nodes?
HMB-45+
What does radial growth of melanoma mean?
horizontal spread of melanoma within epidermis
can radial growth of melanoma metastasize?
nope
What are large nuclei with red nucleoli characteristic of?
Melanoma
abnormal mitotic figures - more proliferation
chromatin is clumped at the periphery of the nuclear membrane
vertical growth of melanoma is when tumor cells travel…
downwards
What is the thickening of the epidermis caused by an increased number of squamous cells?
Acanthosis nigricans
a cutaneous sign of several underlying benign & malignant conditions
A child going through puberty presents with thickened, hyperpigmented, velvet-like, skin with velvet-like texture in flexural areas & intertriginous areas.
1. What is this benign epithelial tumor?
- What are the 2 most common causes?
(intertriginous areas - skin rubs together)
- Acanthosis nigrican
2. Obesity & Diabetes
favorable prognosis: melanoma
thinner tumor depth NO (<1 per mm²)mitosis brisk tumor infiltrating lymphocyte response NO regression lack of ulceration
What is the gene related to increased growth factor receptor signaling in the skin in acanthos nigricans and seborrheic keratosis?
FGFR3
What gene in pts with DM contributes to acanthos nigricans?
IGFR1
DM2, hyperinsulinemia believed → ↑ stimulation of insulin-like growth factor receptor-1 (IGFR1)
A child going through puberty presents with thickened, hyperpigmented, velvet-like, skin with velvet-like texture in flexural areas & intertriginous areas.
1. What is this benign epithelial tumor?
- What are the 2 most common causes?
(intertriginous areas - skin rubs together)
- Acanthosis nigrican
2. Obesity & Diabetes
a type of benign epithelial tumor that arises spontaneously primarily in the trunk, extremities, head, and neck
Seborrheic Keratosis (Seb K)
People of color mainly have this type of benign epithelial tumor and it appears as multiple small lesions on the face
Dermatosis papulosa nigra (a type of Seb K)
where is the carcinoma usually that’s associated with Leser-Trelat
carcinomas of GI tract
what is the type of benign epithelial tumor associated with the presence of a skin tag
Fibroepithelial polyp aka acrochordon
name of the paraneoplastic syndrome associated with Seb K
Leser-Trelat
where is the carcinoma usually that’s associated with Leser-Trelat
carcinomas of GI tract
Follicular Inclusion Cyst (Wen) spills ______ into the dermis
keratin
what is the type of benign epithelial tumor associated with the presence of a skin tag
Fibroepithelial polyp
fibroepithelial polyp associated with what diseases
diabetes, obesity, intestinal polyposis
what is the type of benign epithelial tumor associated with a painful granulomatous inflammatory response
Epithelial or Follicular Inclusion Cyst (Wen)
Follicular Inclusion Cyst (Wen) spills ______ into the dermis
keratin
What gene in pts with DM contributes to acanthos nigricans?
IGFR1
DM2, hyperinsulinemia believed → ↑ stimulation of insulin-like growth factor receptor-1 (IGFR1)
Does acanthosis nigricans have melanocytic hyperplasia?
No
FYI: Histo: epidermis & underlying enlarged dermal papillae undulate sharply →numerous repeating peaks and valleys. Variable hyperplasia may be seen, along with hyperkeratosis & slight basal cell layer hyperpigmentation (but no melanocytic hyperplasia).
Compare removal of fibroepithelial polyp and Follicular Inclusion Cyst
the polyp is easily removed at the stalk whereas the follicular inclusion cyst (wen) has to be removed by the whole sac or else keratin will still be getting filled inside the cyst
typical location of follicular inclusion cyst (wen)
mainly on scalp
fibroepithelial polyp typically located at
head, neck, trunk, face and intertriginous areas
name of adnexal (appendage tumor) that has an increased risk for breast cancer
Cowden syndrome
Cowden syndrome has loss of function in
PTEN
name of adnexal tumor that looks like a “jigsaw” puzzle or is also called “turban tumor”
Cylindroma
Adnexal tumor that is associated with Muir Torre syndrome
Sebaceous adenoma
Familial Cancer Syndromes with Cutaneous Manifestations
Chromosomal Location: 9q22 and others
Gene/Protein: XPA /XPA and others
Normal Function/Manifestation of Loss: Nucleotide excision repair/melanoma and nonmelanoma skin cancers
Xeroderma pigmentosum