Rare skin tumours COPY Flashcards
Tumours we are covering
Tumours of fibrous tissue Merkel cell carcinoma Angiosarcoma Adnexal tumours Sebaceous tumours
Tumours of fibrous tissue
Atypical fibroxanthoma
Malignant fibrous histiocytoma (Malignant part of above) Dermatofibrosarcoma protuberans
Atypical fibroxanthoma
elderly - Mainly men sun exposed - Usually head rapidly enlarging reddish dome shaped nodule often eroded or crusted surface darker hue dt hemosiderin deposition
dermoscopy: reddish and whitish areas - majority non pigmented white structureless and or red structureless white lines may have white circles polymorphous vascular pattern - vessels usually fine, linear ulceration, crusting and keratin masses
tendency to recur after incomplete excision > wide local excision
excellent prognosis
Malignant histiocytoma
elderly sun exposed enlarging subcutaneous nodule, may have significant size and ulcerate
ddx: bcc, scc, melanoma
dermoscopy: Polymorphous vessels Ulceration Hemorrhage
overall survival 50% aggressive tumour metastasizes
Adnexal tumours - classification
follicular
sebaceous
eccrine
apocrine
Adnexal tumour with associated syndromes
Cyclindroma
Spiradenoma
Trichodiscoma
Trichilemmoma
Sebaceous tumours
Keratoacanthomas
Brooke-Spiegler syndrome
Multiple skin tumours Developing from skin appendages
Spiradenomas
Cylindromas
Trichoepitheliomas
Cylindroma and spiradenoma —
Cylindromas and spiradenomas are sweat duct tumors centered in the dermis that often show overlapping features in the same tumor (spiradenocylindroma). They occur sporadically in the older adult population, typically as a solitary papule or nodule on the head or neck or, less commonly, on the trunk and extremities (picture 1B, 1D). Detection of multiple cylindromas (picture 12) or spiradenomas should raise the suspicion of Brooke-Spiegler syndrome or familial cylindromatosis caused by mutation of CYLD. (See ‘Syndromes associated with cutaneous adnexal tumors’ below.)
Trichoblastoma and trichoepithelioma —
Trichoblastoma and trichoepithelioma are benign epithelial tumors composed of follicular germinative cells resembling those seen in the embryologic buds of primitive folliculosebaceous units. They present as smooth, nonulcerated, skin-colored papules, sometimes with associated telangiectasias usually located on the head and neck . The majority of cases occur in adults after the age of 40. The presence of multiple trichoepitheliomas should raise the suspicion of Brooke-Spiegler syndrome or multiple familial trichoepithelioma.
Birt-Hogg-Dube syndrome
Multiple trichodiscomas Associated with benign and malignant renal neoplasms, Lung cysts Spontaneous pneumothorax
Trichodiscoma and fibrofolliculoma —
Although originally described as distinct entities, evidence suggests that trichodiscomas and fibrofolliculomas represent a spectrum of the same neoplastic process [80]. There is also overlap with perifollicular fibroma (angiofibroma). Both fibrofolliculoma and trichodiscoma present as small, 2 to 4 mm, dome-shaped, skin-colored papules on the face, scalp, ears, or upper trunk. They occur sporadically in adults and are seen in multiplicity in patients with Birt-Hogg-Dubé syndrome
Cowden syndrome
AKA multiple hamartoma syndrome.
The common lesions are trichilemmomas, acral keratoses, and facial papules/oral papillomas
Young age Trichilemmoma Oral mucosal papillomatosis Acral keratoses Palmoplantar keratoses Associated with malignancy - breast Ca, thyroid Ca, Colon Ca, Renal cell Ca. Usually the dermatologist is last one to see the patient.
Trichilemmomas
hamartomatous tumors of the outer root sheath of the hair follicle or other skin appendages that occur on the face and neck of patients with Cowden syndrome. Trichilemmoma is a clinically significant sign of Cowden syndrome when seen in multiplicity (three or more). They present as wart-like, skin-colored papules with slightly rough surfaces; histologically, the lesions contain large glycogen-rich cells [44]. Clinically, trichilemmomas are indistinguishable from trichoepitheliomas and other benign follicular tumors affecting the pilosebaceous unit, including fibrofolliculomas and trichodiscomas (which are characteristic lesions of Birt-Hogg-Dube syndrome) [45]. At least one lesion should be biopsied given the difficulty with clinical diagnosis [46]. (See “Birt-Hogg-Dubé syndrome”.)
A trichilemmoma is rarely a sporadic feature. One study found a complete loss of PTEN expression by immunohistochemistry in five of six (83 percent) trichilemmomas from patients with Cowden syndrome compared with only 1 of 33 (3 percent) sporadic trichilemmomas [47]
Muir Torre Syndrome
Phenotypic variant of Lynch syndrome (non polyposis colon cancer syndrome) Autosomal dominant Sebaceous tumours Multiple keratoacanthoma Early onset visceral tumours (Colon and urinary tract)
Which sebaceous tumours are associated with Muir Torre Syndrome?
Sebaceomas Sebaceous adenoma Sebaceous carcinoma
Trichilemmoma - associated syndrome
Cowden syndrome
Dermatofibrosarcoma protuburans - clinical
one or more firm, erythematous nodules or plaques resembles scar but no h/o scar may enlarge slowly over many years May ulcerated or suppurate
Dermatofibrosarcoma protuburans - incidence
1% of soft tissue sarcomas most common cutaneous sarcoma
Dermatofibrosarcoma protuburans - Ddx
dermatofibroma
Dermatofibrosarcoma protuburans - Dermoscopy
reddish background colour fine linear vessels - may be arborizing no criteria for dermatofibroma
Dermatofibrosarcoma protuburans - Malignant potential
Low to intermediate rarely metastasizes locally aggressive high recurrence rate
Dermatofibrosarcoma protuburans - management
Wide local excision - 5 cm
Cutaneous angiosarcoma of head and neck - clinical
Unique entity elderly men poor prognosis
Cutaneous angiosarcoma - associated with lymphedema
occurring years after radiation occurring after years of lymphedema
Dermoscopy head and neck angiosarcoma
Typical colours of vascular tumours - red, purple, blue and white lines in nodular area
Merckel cell carcinoma - Epidemiology
0.2-0.45 cases per 100 000 100 times rarer than melanoma increasing incidence recent years
Merckel cell carcinoma - Clinical
sun exposed - because immune suppressed mainly elderly but not only rapidly enlarging reddish dome shaped nodule
Merckel cell carcinoma - Dermoscopy
milky red area polymorphous vascular pattern may be arborizing white lines
Merckel cell carcinoma - Management
Wide local excision. Some recommend sentinel bx. Some recommend only wide excision and radiation. role of radiotherapy debated
Merckel cell carcinoma - Ddx
BCC, SCC, Melanoma
Merckel cell carcinoma - Prognosis
Poor tend to recur after incomplete excision Metastasizes
Adnexal tumours - features overlapping with BCC
arborizing vessels blue grey dots or globules
Desmoplastic trichoepithelioma - clinical characteristics
Usually arises on face or scalp Small nodule Usually present for a long time Ivory-white background colour short vessels - not sharply focussed.
Pilomatricoma - clinical
Young patients/ children Firm on palpation. Sometimes tender on palpation
Pilomatricoma - Dermoscopy
Irregular white and yellow structures White streaks Reddish homogenous areas Linear vessels Ulceration Blue grey areas
Eccrine poroma - clinical
Typical arises on feet and palms of hands Slowly enlarging nodule
Eccrine poroma - Dermoscopy
Polymorphous vessels with white halo Peripheral yellowish structures
Eccrine poroma - the great masquerader
Can mimic everything - pigmented BCC, pigmented melanoma, amelanotic melanoma
Eccrine porocarcinoma - clinical
arises on pre-existing benign poroid tumours as reddish ulcerated nodule
Tumours of hair follicle
desmoplastic
trichoepithelioma
pilomatricoma
Eccrine porocarcinoma - Dermoscopy
Amelanotic tumour Polymorphous vascular pattern - dotted and linear irregular vessels ulceration
Hidrocystoma - clinical
predilection for peri-orbital areas lesions may be found on other areas of face, head and trunk
Hidrocystoma - Dermoscopy
structureless skin coloured/ yellowish to bluish areas possibly in combination with linear vessels
Syringomas - clinical
commonest sweat gland tumour
Syringomas - Dermoscopy
yellowish/brownish structureless background possible combined with scarce fine linear vessels
Eruptive syringoma - what is it?
Uncommon clinical condition Multiple yellow/brown firm papule No specific site predilection Young adults
Syringocystadenoma papilliferum - clinical
Arises mainly from sebaceous tumours Nodule with a lot of yellow colour dt keratin masses
Syringocystadenoma papilliferum - Dermoscopy
yellow colour dt keratin masses pink background linear not in focus vessels
Trichilemmal carcinoma - clinical
may cause cicatricial alopecia (don’t see the hair follicle.)
Cyclindroma - clinical
usually develops as solid lesion (nodule) on the scalp or face of adult females
Spiradenoma - clinical
solitary painful nodular young adults trunk and upper extremities
sebaceous adenoma - Dermoscopy
One presentation: Yellowish ovoid nests Arborizing vessels not in focus Alternate presentation: Short dotted and linear vessels at periphery In centre, either keratin mass, or ulceration, or yellowish mass. More resembling keratoacanthoma
sebaceous carcinoma vs BCC, Dermoscopy
SC: unfocussed arborizing vessels over a white to yellow background and few loosely arranged yellow comedo like globules. BCC: In focus arborizing vessels and ulceration.
sebaceous adenoma vs sebaceous hyperplasia vs squamous cell carcinoma
SA: Central crater, crown vessels, opaque structureless, white centre, blood crusts. SH: Crown vessels, page structureless, white/yellow centre. SCC: Keratotic material. White circles.
sporadic sebaceous carcinoma - clinical
very rare very aggressive typical in immunosuppressed patient Upper eyelid is common site
sporadic sebaceous carcinoma - management
wide local excision
sporadic sebaceous carcinoma - Dermoscopy
white reddish background dotted vessels ulceration yellowish hyperkeratotic material
Trichodiscoma - clinical
young patients may be solitary when multiple think about Birt Hogg Dube syndrome usually syndrome is diagnoses before dermatologist sees patient.
Trichilemmoma - clinical
Verrucous lesion
Trichodiscoma - Ddx
Congenital nevus Seb keratosis
Trichilemmoma - Dermoscopy
keratin masses perivascular whitish halos
Trichodiscoma - Dermoscopy
whitish globular structures distributed in a cobblestone-like pattern combined with blue-grey nests blurred linear vessels
Cyclindroma - Dermoscopy
overlapping characteristics of BCC linear vessels unfocused and arranged at periphery of the lesion. sometimes yellowish pinkish background and arborizing vessels
Sweat gland tumours
Eccrine poroma Eccrine porocarcinoma Hidrocystoma Syringomas Syringocystadenoma papilliferum Trichilemmal carcinoma Cyclindroma Spiradenoma Trichodiscoma Trichilemmona
Trichilemmal carcinoma - Management
Wide excision
