20 - 109 - APPENDAGE TUMORS OF THE SKIN Flashcards
ductal differentiation is most commonly observed in what type of appendage tumor
Eccrine Tumors
Eccrine Tumors
Apocrine Tumors
Follicular Tumors
Sebaceous Tumors
Genetic Syndromes Associated with Appendage Neoplasms
Eccrine Appendage Neoplasms
Hidradenoma is a solitary, indistinct dermal nodule
B, The tumor is a circumscribed, nonencapsulated, solid and cystic dermal neoplasm.
C, Hidradenoma is composed of clear cells and cells with ductal and glandular differentiation.
Eccrine poroma is an erythematous dermal nodule with an epidermal rim that often occurs on acral surfaces.
A, Cylindroma is a smooth, flesh-colored papule, often presenting on the head and neck
B, The tumor is a dermally based proliferation of islands of basaloid epithelium, arranged in a pattern similar to that seen in a jigsaw puzzle.
C, An eosinophilic zone of basement membrane material separates the interlocking nests of tumor cells. Within the tumor nests, central cells have vesicular nuclei and eosinophilic cytoplasm, while peripheral cells have round basophilic nuclei with scant cytoplasm.
Spiradenoma is a flesh-colored nodule
B, It is usually a multinodular nonencapsulated dermal tumor wherein the basaloid nodules resemble blue balls in the dermis.
C, The central tumor cells have vesicular nuclei and eosinophilic cytoplasm, and the peripheral cells have smaller, round, basophilic nuclei with scant cytoplasm.
Syringoma presents as multiple, small, flesh-colored papules, often in a periorbital distribution
B, The tumor is composed of a dermal proliferation of cords and nests of tumor cells in the upper dermis.
C, Small ductal structures are present in a sclerotic stroma forming tadpoleshaped and comma-shaped epithelial structures.
Summary of Immunohistochemical Stains in the Distinction between Squamous Cell Carcinoma and Select Appendage Neoplasms
A, Microcystic adnexal carcinoma is an infiltrative tumor composed of cords and cysts of varying sizes and shapes.
B, The tumor extends through the dermis to involve the subcutaneous fat.
C, Perineural invasion is often seen.
D, The tumor cells may be positive for CK7.
Apocrine Appendage Neoplasms
Hidrocystoma is a translucent papule, frequently seen in a periorbital distribution.
A, Syringocystadenoma papilliferum can present as a crusted verrucous plaque on the scalp.
B, Serous drainage is not an uncommon finding.
C, The tumor occurs as an invagination of papillomatous projections in the epidermis.
D, On the left side of this image a papillary projection is seen, composed of an inner layer of columnar epithelium with decapitation secretion and an outer layer of myoepithelial cells.
A, Hidradenoma papilliferum occurs as a well-circumscribed solid and cystic dermally based nodule, with interconnected glands that form labyrinthlike arrangements of tumor cells.
B, The projections are composed of cuboidal and columnar epithelium with decapitation secretion and a basal layer of myoepithelial cells.
A, Adenoid cystic carcinoma is composed of dermal islands of basaloid cells.
B, The tumor cells have a characteristic cribriform arrangement, with punched out pseudocysts filled with mucin.
C, The tumor cells usually stain positively for CD117 (cKIT).
A, Trichofolliculoma is characterized by numerous small hair follicles radiating from a central pore.
B, The follicles vary in stages of differentiation.
Classification of Follicular Appendage Neoplasms
Trichoblastoma present as red to flesh-colored dermal nodules, often on the face.
B, The tumor is a circumscribed dermal nodule composed predominantly of basaloid cells.
C, The basaloid epithelioid structures may resemble basal cell carcinoma; however, the characteristic mucin-containing clefts separating basal cell carcinoma from the stroma are not a feature of trichoblastoma.
A, Trichoepithelioma is a well-circumscribed, superficial, dermal tumor.
B, The tumor is composed of basaloid germinative epithelial cells that form papillary mesenchymal bodies, which are composed of a cup-shaped arrangement of basaloid epithelium with a central cellular fibroblastic core.
C, In tumors with a predominance of basaloid cells the differential diagnosis includes basal cell carcinoma. D, CK20+ Merkel cells are often present.
A, Fibrofolliculoma is composed of pilar and stromal elements.
B, Irregularly shaped follicles with delicate fronds extend into a densely fibrotic perifollicular stroma.
Pilomatricoma is a circumscribed dermal nodule
(B) peripheral nucleated basaloid cells and central eosinophilic shadow cells (ghost cells).
C, The basaloid cells have round nuclei resembling pilar matrical cells, whereas shadow cells are composed of eosinophilic cellular material with a faint outline of nuclear membrane.
D, In some cases basaloid cells are inconspicuous and there is prominent calcification, in which event, the tumor also has been known as calcifying epithelioma of Malherbe.
A 55-year-old woman sought consult due to a solitary, flesh colored papule surrounded by an epidermal rim on the palm (acral skin). Biopsy will theoretically show:
a. well-circumscribed endophytic proliferations of cuboidal cells with basophilic round nuclei and eosinophilic cytoplasm with extension from the epidermis into the dermis.
b. islands of basaloid cells arranged in a “jigsaw puzzle”–like arrangement in the dermis surrounded by eosinophilic basement membrane material
c. multinodular, unencapsulated dermal neoplasm composed of basaloid cells arranged in cords in a trabecular pattern
d. ductal structures classically have a “tadpole”-shaped or “comma”-shaped tail
A
Page 1824. Lesion is a poroma. B: cylindroma; C: spiradenoma D. Syringoma
islands of basaloid cells arranged in a “jigsaw puzzle”–like arrangement in the dermis surrounded by eosinophilic basement membrane material
cylindroma
well-circumscribed endophytic proliferations of cuboidal cells with basophilic round nuclei and eosinophilic cytoplasm with extension from the epidermis into the dermis
poroma
multinodular, unencapsulated dermal neoplasm composed of basaloid cells arranged in cords in a trabecular pattern
spiradenoma
Two cell types are seen in spiradenomas:
(a) small basaloid cells with hyperchromatic nuclei and scant cytoplasm located at the periphery of the nodules, and
(b) larger basaloid cells with vesicular nuclei and pale cytoplasm located in the center of the nodules
ductal structures classically have a “tadpole”-shaped or “comma”-shaped tail
Syringoma
Which syndrome presents with multiple cylindromas?
a. Down syndrome
b. Brooke-Spiegler Syndrome
c. Goltz-Gorlin Syndrome
d. Birt-Hogg-Dube Syndrome
B
Page 1825. A. Syringoma,
C. hydrocystoma.
D. Trichodiscoma *Brooke-Spiegler Syndrome may also present with multiple spiradenoma, cyndrocarcinoma, spiradenocarcinoma, trichoepithelioma
The following are histological differential diagnosis of microcystic adnexal carcinoma except:
a. morpheaform basal cell carcinoma
b. desmoplastic trichoepithelioma
c. syringoma
d. spiradenocarcinoma
D
What is the most commonly affected site of trichofolliculoma?
a. scalp
b. cheeks
c. nose
d. trunk
C
Multiple trichoepitheliomas are seen in the following except
a. Brooke-Spiegler Syndrome
b. Rombo Syndrome
c. Bazex-Dupre-Christol Syndrome
d. Gardner Syndrome
D
Gardner Syndrome: Pilomatricoma
Birt-Hogg-Dube syndrome have an increased risk of the following except?
a. renal tumors
b. heart disease
c. lung cysts
d. recurrent pneumothoraces
B
A well-circumscribed dermal nodule with peripheral, nucleated basaloid cells and central, enucleated eosinophilic “ghost” cells is seen in
a. Trichoblastoma
b. Trichoepithelioma
b. Pilomatricoma
d. Trichilemomma
Pilomatricoma
Dilated pore shows differentiation toward the ___________.
a. Germinative cells
b. Follicular infundibulum
c. Isthmus
d. Mesenchyme
b. Follicular infundibulum
Dilated pore shows infundibular differentiation, rather than isthmic differentiation with eosinophilic or clear cytoplasm seen in pilar sheath acanthoma.
Lesions associated with Muir-Torre Syndrome except
A. Sebaceous hyperplasia
B. Sebaceous adenoma
C. Sebaceoma
D. Sebaceous carcinoma
A. Sebaceous hyperplasia
All are true in describing AK, except:
a. The overall risk of progression to invasive SCC is 1-5%
b. Risk factors include fair skin, age, cumulative UV radiation exposure, immunosuppression, prior history of non-melanoma skin cancer.
c. Workers with a long history of outdoor occupation, such as farmers, construction workers, or fishermen, have an up to 2.5-fold increased risk compared to indoor workers.
d. The prevalence increases with age in both sexes.
However, men are more likely to develop AK than women.
ANSWER: A. Page. 1857. The overall risk of progression to invasive SCC is estimated as 5% to 10%.
A. Erythematous AK
B. Hypertrophic AK
- has a propensity for dorsal hands, arms, and scalp.
- It is usually more easily felt than seen
- most often found against a background of photodamaged skin
B, A, A
P.1858 The typical AK lesion presents most commonly as a 2to 6-mm, erythematous, flat, rough, gritty or scaly papule (Fig. 110-2). It is usually more easily felt than seen. They are most often found against a background of photodamaged skin
enumerate benign eccrine tumors
“Cylinder and Spiral HiPS”
■ Cylindroma
■ Spiradenoma
■ Hidradenoma
■ Poroma
■ Syringoma
enumerate benign apocrine tumors
“HAS HTN”
■ Hidrocystoma
■ Apocrine mixed tumor
■ Syringocystadenoma papilliferum
■ Hidradenoma papilliferum
■ Tubular adenoma
■ Nipple adenoma
Adnexal tumor with PANFOLLICULAR differentiation
Trichofolliculoma
Adnexal tumor with FOLLICULAR GERMINATIVE AND FOLLICULAR STROMAL CELLS differentiation
■ Trichoblastoma
■ Trichoepithelioma
■ Desmoplastic trichoepithelioma
Adnexal tumor with FOLLICULAR MESENCHYMAL differentiation
■ Trichodiscoma (fibrofolliculoma)
Adnexal tumor with MATRICAL differentiation
Pilomatricoma (pilomatrixoma)
Adnexal tumor with Bulb/stem outer root sheath differentiation
■ Trichilemmoma
Adnexal tumor with Isthmic outer root sheath differentiation
■ Tumor of follicular isthmus
■ Pilar sheath acanthoma
■ Proliferating pilar tumor
Adnexal tumor with infundibular differentiation
■ Trichoadenoma
■ Dilated pore (of Winer)
What appendage neoplasms are associated with Brooke-Spiegler
Cylindroma, Spiradenoma, Cylindrocarcinoma/ Spiradenocarcinoma, trichoepitheliomas (included in the text, not in the table)
What appendage neoplasms are associated with Multiple familial trichoepitheliomas
Multiple trichoepitheliomas, Cylindroma
What appendage neoplasms are associated with Rombo Syndrome
Multiple trichoepitheliomas
What appendage neoplasms are associated with Bazex-Dupré-Christol
Multiple trichoepitheliomas
What appendage neoplasms are associated with Schöpf-Schulz-Passarge
Multiple hidrocystomas
What appendage neoplasms are associated with Goltz-Gorlin
Multiple hidrocystomas
What appendage neoplasms are associated with Birt-Hogg-Dubé
Trichodiscoma/fibrofolliculoma
What appendage neoplasms are associated with Gardner
Pilomatricoma
What appendage neoplasms are associated with Myotonic muscular dystrophy
Pilomatricoma
What appendage neoplasms are associated with Rubinstein-Taybi
Pilomatricoma
What appendage neoplasms are associated with Cowden
Trichilemmoma (with mucosal involvement)
What appendage neoplasms are associated with Keratitis, ichthyosis, and deafness (KID)
Proliferating pilar tumor
What appendage neoplasms are associated with Muir-Torre
Sebaceous adenoma (especially at sites other than head and neck), sebaceoma, sebaceous carcinoma
What do you call the spiraled, intraepidermal portion of the eccrine duct?
Acrosyringium
Syringomas have been reported in association with what syndrome?
Down syndrome
dermal islands of basaloid cells arranged in a cribriform pattern with “punched-out” pseudocysts filled with mucin
ADENOID CYSTIC CARCINOMA
most common appendage tumor in children
Pilomatricoma
What are the 2 layers of syringocystadenoma papilliferum?
- Inner Layer: Columnar to cuboidal epithelium with decapitation secretion; (+) CK7, EMA, CEA
- Basal/ Myoepithelial cells
(+) Plasma cells
well-circumscribed solid and cystic dermally based nodule, with interconnected glands that form labyrinthlike arrangements of tumor cells.
Hidradenoma papilliferum
dermal islands of basaloid cells arranged in a cribriform pattern with “punched-out” pseudocysts filled with mucin
The tumor cells usually stain positive for what stains
Adenoid cystic carcinoma
CK7, CD117 (cKIT), CK15, and SOX-10
benign follicular hamartoma that shows differentiation toward** all portions of the hair follicle**
TRICHOFOLLICULOMA
central dilated or cystic infundibulum and secondary hair follicles radiating into the dermis
Trichofolliculoma
Papillary mesenchymal bodies are a characteristic finding of these tumors
TRICHOEPITHELIOMA AND DESMOPLASTIC TRICHOEPITHELIOMA
also trichoblastoma
Multiple trichodiscomas/fibrofolliculomas are manifestations of what syndrome?
Birt-Hogg-Dubé syndrome, an autosomal dominant syndrome caused by mutations in the folliculin (FLCN) gene on chromosome 17
What syndromes are pilomatricoma associated to?
Gardner syndrome
Myotonic muscular dystrophy
Rubinstein-Taybi syndrome
well-circumscribed dermal nodule with peripheral, nucleated basaloid cells and central, enucleated eosinophilic “ghost” cells
Pilomatricoma
Trichilemmoma is associated with what syndrome?
Cowden Syndrome
- autosomal dominant syndrome caused by mutations in the tumor-suppressor gene PTEN
- have hamartomas affecting multiple organ systems, including the skin, breast, thyroid, endometrium, and GI tract, and have an increased risk of malignancy in those affected organs, especially the breast
Tumor of follicular infundibulum displays what type of differentiation?
follicular isthmic differentiation
Page 1847: Despite its name, tumor of follicular infundibulum displays follicular isthmic differentiation, rather than infundibular, and its pathogenesis is still unclear.
Sebaceous adenoma (especially at sites other than head and neck), sebaceoma, sebaceous carcinoma are associated with what syndrome?
Muir-Torre syndrome
Sebaceous Adenoma > Sebaceoma
Sebaceous cells (>50%) > Basaloid Cells
Sebaceous Adenoma
Basaloid Cells > Sebaceous Cells
Sebaceoma
area of predilection of poroma
acral surfaces
dermoscopy findings of poroma
leaf-and-flower–like vascular pattern with interlacing white cords
what immunostains can be used to highlight **duct formation **within the tumor
Epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA)
multiple cylindromas can be seen in what syndromes?
Brooke-Spiegler and multiple familial trichoepitheliomas syndromes
BrookeSpiegler syndrome, an autosomal dominant condition caused by mutations in what gene?
CYLD
multiple spiradenomas can be seen in what syndrome?
Brooke-Spiegler syndrome
what syndromes are associated with hidrocystoma
Schöpf-Schulz-Passarge and Goltz-Gorlin
area of predilection of syringocystadenoma papilliferum
scalp
area of predilection of hidradenoma papilliferum
anogenital region in females - vulva
hidradenoma papilliferum contains activating mutations in what gene?
PIK3CA
what is the mucin in Adenoid cystic carcinoma?
what can stain can be used to visualize it?
sialomucin
Alcian blue stain (pH 2.5)
classically composed of nests of epithelial cells floating within pools of mucin
Mucinous carcinoma
most commonly affected site of trichofolliculoma
nose
Classically, a central dell with protruding vellus hairs is seen
Trichofolliculoma
benign follicular hamartoma that shows differentiation toward all portions of the hair follicle
Trichofolliculoma
central dilated or cystic infundibulum and secondary hair follicles radiating into the dermis
Trichofolliculoma
malignant neoplasm of follicular germinative differentiation
Basal cell carcinoma
benign neoplasm, showing differentiation toward both follicular germinative and follicular stromal cells
Trichoblastoma
considered the cribriform variant of trichoblastoma with infundibulocystic differentiation
Trichoepithelioma
columnar variant of trichoblastoma
Desmoplastic trichoepithelioma
Multiple trichoepitheliomas are seen in what sydromes?
- Multiple familial trichoepitheliomas
- Rombo syndrome
- Bazex-Dupré-Christol syndrome
characteristic finding of trichoepithelioma
Papillary mesenchymal bodies
Multiple trichodiscomas/fibrofolliculomas are manifestations of what syndrome?
Birt-Hogg-Dubé syndrome
differentiation of pilomatricoma
follicular matrix
Pilomatricoma can be associated with a variety of genetic syndromes like what?
- Gardner syndrome,
- Myotonic muscular dystrophy,
- Rubinstein-Taybi syndrome
Multiple trichilemmomas with involvement of mucocutaneous sites are associated with Cowden syndrome (multiple hamartoma syndrome), an autosomal dominant syndrome caused by mutations in what gene?
PTEN
- well-circumscribed tumor with endophytic lobules extending from the epidermis into the dermis
- Surface verrucous changes are often present.
- The lobules are composed of pale, eosinophilic keratinocytes with peripheral palisading and are surrounded by a thick, PAS-positive, hyaline membrane
Trichilemmoma
what is the differentiation of tumor of follicular infundibulum
follicular isthmic differentiation
- composed of strands of eosinophilic, isthmic keratinocytes that extend from the epidermis into the superficial dermis in a reticular pattern
- Special stains reveal a **“brush-like” network of elastic fibers **that surround the base of the tumor.
tumor of follicular infundibulum
Proliferating pilar tumors have been reported in patients with what syndrome?
keratitis, ichthyosis, and deafness (KID) syndrome
caused by mutations in the gene encoding connexin-26
differentiation of trichoadenoma
infundibulum
well-circumscribed, dermal nodule composed of** infundibulocystic structures (keratin cysts**) within a fibrotic stroma
Trichoadenoma
differentiation of dilated pore of winer
follicular infundibulum
- dilated infundibulum oriented perpendicularly to the epidermal surface.
- Epithelial projections resembling rete ridges radiate from the central pore.
- There is epithelial atrophy at the ostium of the pore and it is filled with lamellar orthokeratosis
dilated pore of winer
sebaceous glands are located throughout the body, except what areas?
palms and soles
Sebaceous adenomas, as well as other sebaceous neoplasms, are associated with what syndrome?
Muir-Torre syndrome
- display a lobular architecture with central mature sebocytes with vacuolated cytoplasm and peripheral basaloid germinative cells
- Connection to the epidermis is often seen.
- **Basaloid germinative cells comprise less than 50% **of the tumor volume in sebaceous adenomas
sebaceous adenoma
- well-circumscribed dermal nodule composed of greater than 50% basaloid germinative cells
- Mature sebocytes can be conspicuous (but less than 50% of the neoplasm) or focal/rare.
- Cytologic atypia is rare and focal when present
SEBACEOMA/SEBACEOUS EPITHELIOMA
Immunohistochemical staining for _________ in a vesicular cytoplasmic pattern may confirm the presence of sebaceous differentiation
adipophilin
most common extraocular site of sebaceous carcinoma
head and neck region
This staining was found to be highly sensitive for sebaceous differentiation compared to clearcell carcinomas
nuclear factor XIIIa
