Adnexal Neoplasms Flashcards
(118 cards)
1
Q
What are the differentiation types for adnexal neoplasms?
A
Follicular, sebaceous, apocrine, eccrine
2
Q
What is the syndrome w/ sebaceous tumors?
A
Muir Torre
3
Q
What is a hamartoma?
A
Benign proliferation, aberrant proportion of tissue, not neoplasm
4
Q
MC site for hair follicle nevus?
A
By the ear on the face
5
Q
MC site for trichofolliculoma?
A
Face, scalp, upper trunk
6
Q
Clinical presentation of trichofolliculoma?
A
Wispy vellus hairs emerging from a skin-colored papule w/ dilated pore
7
Q
Histology of trichofolliculoma?
A
Big momma follicle w/ surrounding little follicles they go out in a radiating type fashion.
8
Q
Clinical presentation of fibrofolliculoma?
A
Multiple small, skin-colored to hypopigmented papules
MC located on the head and neck or upper trunk
9
Q
What dz is fibrofolliculoma associated with?
A
Birt Hogg Dube
10
Q
What is the clinical presentation of Birt Hogg Dube syndrome?
A
AD disorder
Fibrofolliculomas, trichodiscomas acrochordons, renal cell carcinoma chromophore and oncocytoma, colonic adenomas, pulmonary cysts, spontaneous pneumothorax
11
Q
Gene mutations in Birt Hogg Dube
A
flcn (folliculin)
12
Q
Skin lesions seen in Burt Hogg Dube
A
Acrochordon, fibrofolliculoma, trichodicoma, angiofibromas
13
Q
What type of thyroid cancer is seen in BHD?
A
Medullary thyroid cancer
14
Q
If you suspect Birt Hogg Dube syndrome what do you do?
A
Test for FLCN
15
Q
Epidemiology of sebaceous nevi?
A
Usually present at birth
slightly raised, then more verrucous at puberty
16
Q
Most common benign lesion in nevus sebaceous?
A
Trichoblastoma
17
Q
What is the most common malignant lesion in nevus sebaceous?
A
BCC
18
Q
What is the histology in nevus sebaceous?
A
Papillomatous surface w/ large sebaceous glands (enlarged, connecting directly to the skin surface). Can often see apocrine glands (unusual given usual locations)
Lacks fully formed terminal hairs within lesions
19
Q
What is the mutation in nevus sebaceous?
A
HRS
20
Q
What is the triad of Brooke Spiegler syndrome?
A
Brook likes cats CaTS: cylindroma, trichoepitheloma, spiradenoma
21
Q
What is the gene that is mutated for Brooke Spiegler?
A
CYLD
22
Q
What stains for desmoplastic trichoep/blastoma
A
PHLDHA1-positive, but - in morpheaform BCC
23
Q
What is the gene mutation for pilomatricoma?
A
Beta-catenin (CT/NNB1) lesions have trisomy 18
24
Q
What is the clinical description of a pilomatricoma?
A
Solitary, skin-colored or bluish nodule m/c/ on head and trunk
25
What is the DDx of multiple pilomatricomas?
Mrs turner's garden: myotonic dystrophy, Rubenstein Tabey, sarcoid, Turners syndrome, Gardner's syndrome
26
What two types of cells in pilomatricoma?
Matrical cells/basaloid cells and ghost cells
Baseloid cells (purple cells), and then the pink cells are ones that die and they are ghost cells
Bone can form from all the calcium in these lesions sometimes.
27
What is the clinical presentation of pilomatrical carcinoma?
Most commonly located on the head and neck
M/c occurs in adulthood
Often on the retroauricular area within severely sun-damaged skin
28
If multiple tricholemmomas are seen, what is the what dx?
Cowdens
29
Where do tricholemmomas arise from?
Follicular outer sheath (important, stain + for CD34)
30
What is the clinical presentation of tricholemmoma?
Most common on the central face, nose or upper lip (openings of the face)
## Footnote
Smooth skin-colored, verrucous papules
31
Mutation in Cowden's
PTEN
32
What is found on the hand in Cowden's
Sclerotic fibromas, acral deratoses
33
Adenocarcinomas found in Cowden's?
Breast, thyroid gland (follicular), or gastrointestinal tract
34
Name 3 neoplasms with follicular infundibular isthmic differentiation?
Tumor of the follicular infundibulum (TFI), trichoadenoma, proliferating pilar tumor
35
What are the anatomical boundaries of the follicular infundibulum?
Opening on the skin to the insertion of the sebaceous gland
36
What are the anatomical boundaries of the isthmus of the follicle?
Sebaceous gland insertion to the insertion of the erector pili muscle
37
What is the clinical presentation of a proliferating pilar?
Most commonly located on the scalps of elderly women
Growing dermal nodule on the scalp
38
How do you treat proliferating pilar tumor?
Excise (some are malignant behaving)
39
What neoplasms have a sebaceous differentiation?
Sebaceous gland hyperplasia, sebaceous adenoma, sebaceoma, sebaceous epithelioma, sebaceous carcinoma
40
What is the difference clinically between sebaceous adenomas and sebaceomas?
Sebaceous adenomas are papules/nodules \<1cm and then the sebaceoma is a deeper nodule (almost always an intradermal tumor)
41
What is the difference between a sebaceous adenoma and a sebaceous epithelioma
Sebaceous adenoma is more mature so the predominance of more mature sebocytes. Sebaceoma (sebaceous epithelioma) are more predominant made up of seboblasts (blue cells).
## Footnote
Ackerman also said the sabeceoma is more deeply situated (almost always a intradermal nodule)
42
What is the IHC for sebaceous carcinoma?
MSH2--\> loss of function of this so it is negative in sebaceous carcinoma
43
What are the neoplasms w/ apocrine or eccrine differentiation?
Syringoma, poroma, hidradenoma, apocrine adeoma
44
What is the differentiation of syringoma?
Apocrine or eccrine lineage
45
What is the clincial presentation of syringoma?
Most commonly seen around the eyes (skin-colored papules)
46
What dz is the clear cell syringoma variant associated with?
Diabetes Mellitus
47
What syndrome is associated w/ syringoma?
Downs syndrome
48
What is the clinical presentation of eruptive syringomas?
**MC on the trunk**, may include extremities including palms and soles
49
What is the DAMES histologic DDx?
Desmoplastic trichoepithelioma, microcystic adexal carcinoma, morpheform BCC, eruptive syringoma, syringoma.
50
What is the clinical presentation of poroma?
MC on the palms and soles and scalp, can be associated w/ nevus sebaceous
51
Most common mutation in nevus sebaceous?
HRAS
52
What are the 2 forms of poroma?
Epidermal and dermal
53
What is the clinical presentation of hidradenoma?
Solitary dermal or subcutaneous nodule, sometimes cystic or serous drainage
54
What is the clinical presentation of syringocystadenoma papilliferum (SPAP)?
Most commonly located on the scalp and shoulders
## Footnote
Tend to be firm rose-red papules or papillary plaque (can be umbilicated). Superficial erosion and serous drainage is common
55
What is the clinical presentation of HPAP?
Most commonly located on the labia majora or anogenital lesions
## Footnote
Solitary, skin-colored, translucent, nodule or cyst usually less than 1cm in size
56
What are the undifferentiated neoplasms/carcinomas of apocrine differentiation?
Spiradenoma, cylindroma, adenoid cystic carcinoma
57
What is the painful tumor DDx?
"blend an egg" blue rubber bleb, leiomyoma, eccrine spiradenoma, neurofibroma, dermatofibroma, angiolipoma, neurilemoma (schwannoma), endometriosis, granular cell, glomus tumor
58
What gene is mutated in Brooke Spiegler Syndrome?
CYLD
59
What is the classic look of a cylindroma on histology?
Jigsaw puzzle pieces of blue nodules in the dermis
60
What is the clinical presentation of microcystic adnexal carcinoma?
Tends to occur in middle aged to elderly patients
- Presents around the mouth or located on the central face
- Usually looks like a firm skin-colored to yellowish plaque, nodule, or cystic tumor
61
What are the neoplasms w/ eccrine differentiation?
Eccrine nevus, syringoma, adnexal adenocarcinoma, syringofibroadenoma
62
Gene associated with Birt Hogg Dube
Folliculin FLCN which is a tumor suppressor gene
63
What tumor arises from the acrosyringium?
poroma
64
What tumors arise from the eccrine duct/gland?
Syringoma, hidradenoma, mixed tumor, hidrocystoma
65
What tumors arise from the follicular infundibulum?
Trichoepithelioma, fibrofoliculoma, trichodiscoma, trichofolliculoma, nevus comedonicus
66
What tumors arise from the isthmus?
Tricholemmoma, tumor of the follicular infundibulum, proliferating tricholemmal tumor, pilar sheath acanthoma
67
What are the tumors of the germ/matrix cells?
Basal cell carcinoma, pilomatricoma, trichoblastoma, pilomatrical carcinoma
68
Tumors of the apocrine duct/gland?
Syringoma, poroma, hidradenoma, syringocystadenoma papilliferum, spiradenoma, cylindroma, tubular adenoma, microcystic adnexal carcinoma, hidrocystoma, extramammary paget dz, mucinous carcinoma
69
Tumors of the sebaceous gland?
Sebaceous hyperplasia, nevus sebaceous, sebaceous adenoma, sebaceoma, sebaceous carcinoma
75
What disorder is multiple perifollicular fibromas and trichodiscomas associated with?
Birt-hogg-dube syndrome
AD, fibrofoliculomas, trichodiscomas, and acrocordons.
a/w renal cancer (chromophore and oncocytoma), colonic adenomas, pulmonary cysts, spontaneous pneumos, medullary thyroid carcinoma.
78
What is the clinical presentation for desmoplastic trichoepithelioma?
MC: solitary annular indurated and centrally depressed papules or plaques on the face of younger individuals
80
Most common benign neoplasms and malignant neoplasms that arise from nevus sebaceous?
Benign: trichoblastoma
Malignant: BCC
83
What is the most common location for mixed tumor (chondroid syringoma)?
MC on head and neck, may develop on trunk or within axillary or genital skin
86
What are the components of cowden's dz?
Cowden’s disease: tricholemommas, sclerotic fibromas, acral keratoses, adenocarcinoma of breast, thyroid gland or gastrointestinal tract
87
What syndrome is associated w/ multiple trichoepitheliomas also known as epithelioma adenoides cysticum?
Brooke Spiegler Syndrome
88
What is the histology of the tumor of the infundibulum?
**Plate-like** proliferation of eosinophilic isthmic keratinocytes
arranged in a reticulate pattern in the superficial dermis
## Footnote
Broad intermittent continuity with surface epidermis and follicular structures.
89
What is the histology of trichoadenoma?
Benign, follicular neoplasm w/ sclerotic stroma, often w/ stands of basaloid cells and many small cystic spaces w/ cornifying cysts (can look like big glasses or eyes)
90
What is the triad of Brooke-Spiegler syndrome?
Cylindromas, trichoepitheliomas, spiradenomas.
93
Stains for trichoepithelioma to differentiate between that and BCC?
CK20, CK34+, androgen-R (negative), Bcl-2 (+ in BCC diffusely, only peripherally + in trichoepithelioma)
95
How do you distinguish desmoplastic trichoep/blastoma from morpheaform BCC?
PHLDHA1 +, negative in morpheaform BCC
97
if there are multiple pilomatricoma what is on the differential?
MRS turners garden
Myotonic dystrophy, Turner syndrome and Gardner syndrome, and Rubenstein-Taybi syndrome
99
Mutation in what gene causes pilomatricoma?
Beta-catenin (CTNNB1), lesions demonstrate trisomy 18
103
What is the differentiation of the tricholemmoma?
Follicular outer sheath
104
Most common locations for tricholemmoma?
MC on the face, nose, and upper lip
105
If you see multiple tricholemmomas on the face or genital skin what should we consider?
Cowden's dz
106
What is the mutation in cowden's dz?
PTEN
111
What is the tricholemmal carcinoma made up of?
Glycogen containing clear cells similar to follcular outer sheath. show accompanying keratinization so there is overlap with lesions that have been pigeon-holed as clear cell SCC.
112
What stain is the tricholemmal carcinoma + for?
CD34+ also the basement mebrane is PAS +
117
What is the classic triad of muir-torre syndrome?
1) Multiple sebaceous adenomas
2) Multiple keratoacanthomas
3) Visceral carcinomas especially colon adenocarcinoma
118
What is the immunohistochemistry of trichoepithelioma?
PHLDA1+; stroma is CD34+ and CD10+ (BCC has more epithelial staining here rather than stroma), androgen receptor-negative (vs + in BCC), BCL-2 on stains periphery vs more diffusely in BCC
119
What is the most common sebaceous neoplasm in Muir Torre syndrome?
Sebaceoma
120
Ocular sebaceous carcinoma is often misdiagnosed as what initially?
Chalazion or blepharitis
121
Clinical presentation of sebaceous carcinomas?
Significant metastatic potential
- Separated into ocular and extraocular types
- Most commonly located near the yes, look like nonspecific red nodule with or without ulceration
122
Most common locations for sebaceous carcinoma?
Periorbital area\> other sites on head/neck \> trunk
123
What is the differential of a sebaceous neoplasm that has \> 50% sebaceous basaloid cells (seboblasts)?
Must either be a sebaceous carcinoma or sebaceoma
124
What are some key histologic features of microcystic adnexal carcinoma?
Divergent bi-lineage differentiation (follicular and sweat gland)
Deeply infiltrative throughout the dermis, SQ and into muscle
Usually has perineural invasion and lymphoid aggregates
125
What is the clinical presentation of eccrine poroma?
MC on the palms/soles (lots of eccrine glands)
## Footnote
Presents as a solitary, vascular-appearing papule/nodule that can have ulceration and bleeding. Can often be surrounded by a thin mote
126
What is the histology of eccrine poroma?
Circumscribed, endophytic proliferation w/ broad, multifocal epidermal connections made up of **monomorphous,** small cuboidal cells with intercellular desmosomal bridges (poroid cells)
## Footnote
Can see variably sied sweat ducts w/ pink cuticle and there is often a highly vascularized stroma resembling granulation tissue
127
Immunohistochemistry of eccrine poromas?
\+ for CEA, EMA, and PAS highlight ducts and intracytoplasmic lumina
128
What are the 3 variants of poroma?
- Hidroacanthoma simplex (Intraepidermal form that is only in the epidermis, most superficial)
- Classic poroma (juxtaepidermal)
- Dermal duct tumor (wholly dermal)
129
Clinical features of porocarcinoma?
Most common sweat gland malignancy
- Seen in elderly, most commonly on the lower extremity, and can either arise in a longstanding poroma or de novo
- Metastasis is common (20%), and there is a 10% mortality
130
Histology of porocarcinoma?
Like classic poromas but with more cytologic atypia, increased mitoses, atypical mitoses, and infiltrative growth pattern at the tumor base
131
What is the clinical presentation of hidradenoma?
Solitary nodule (often multilobulated) with a deep red-purplish hue and cystic quality
132
What is the histology of hidradenoma?
- Composed of 3 cell types: Squamoid cells, poroid cells, and clear cells. Can have these in varying amounts
- Large tumor nodules, large areas of cystic degeneration of then, **prominent dermal sclerosis with keloidal collagen**
133
Can a syringomatous carcinoma arise out of a syringoma?
NO! always de novo
134
What is the histology of a mixed tumor (chondroid syringoma)?
Comprised of a roughly 50/50 mixture of epithelial (ectodermal) and stromal (mesodermal) cell types
- the epithelial component is usually eccrine or apocrine more than follicular, sebaceous or plasmacytoid
- The stromal component is myxoid or chondroid more than others
135
What is the clinical presentation of a spiradenoma?
Painful, dermal or subcutaneous nodule w/ a blue-purple hue
## Footnote
**Favors the upper half of the body**
136
What is the histology of the spiradenoma?
"Big blue balls in the dermis"
- Ductal formation including cystically dilated ducts can be seen. There are 2 cell types, hyperchromatic cells w/ minimal cytoplasm, and larger pale-staining inner cells with more cytoplasm.
- **Intratumoral lymphocytes and PAS+ eosinophilic droplets in the middle of the tumor**
137
Clinical presentation of cylindroma?
90% occur on the head/neck (mostly scalp)
- Solitary erythematous/purple nodule w/ telangiectasia
- Multiple cylindromas can coalesce and form a "turban-tumor" in Brooke Spiegler
138
What is the clinical presentation of aggressive digital papillary adenocarcinoma?
Affects the volar digits of middle-aged adults (M\>\>\>W 7:1), dermal nodule/bluish to brown coloring
139
Histology of aggressive digital papillary adenocarcinoma?
Histology can look rather bland, almost like an SPAP, but if you see it on the finger take cation!
## Footnote
Cytologic atypia can be present, increased mitotic rate (check Ki-67)
140
What is the treatment for aggressive digital papillary adenocarcinoma?
Amputation (aggressive treatment needed, high metastasis and recurrence rate)
141
Clinical presentation of mucinous carcinoma?
Very rare, presents as a slow-growing, soft nodule on the eyelid or periocular region in an elderly patient
142
Histology of mucinous carcinoma?
Basaloid epithelial tumor nodules floating in a lake of mucin
## Footnote
Has a cribriform appearance form the intratumoral ducts
143
What should be considered if a mucinous carcinoma is seen on the trunk?
Lesions on the face are almost always primary, **lesions on the trunk are almost always metastasis of visceral malignancy** (GI, breast, lung, or ovarian)
144
What is the clinical presentation of adenoid cystic carcinoma?
An indolent tumor on the scalp of middle-aged adults
## Footnote
little metastatic risk but recurs commonly (70%) 2/2 perineural invasion
145
How could you tell if a mucinous carcinoma is primary cutaneous or metastatic?
Primary cutaneous will be **p63+**, SMA+, and calponin+ (myoepithelial cells together, myoepithelial layer is never present in metastatic tumors)
146
What are the staining differences between the primary cutaneous mucinous carcinoma and metastatic mucinous carcinoma from the GI tract?
Primary cutaneous mucinous carcinoma: CK7+/CK20+, ER +, PR +, AE1/AE3, CAM5.2, EMA, CEA +
Metastatic mucinous GI tumor: CK7-/CK20+, sulfomucin (alcian blue + at pH 1.0 and 0.4) vs PCMC = sialomucin (Alcian blue + @ pH 2.5)
