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41 Cards in this Set
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Just read this:
Tumors of fat |
nevus lipomatosus
piezogenic pedal papules lipoblastoma lipofibromatosis hemosiderotic fibrolipomatous tumor pseudolipomatosis cutis lipoma/lipomatosis hibernoma atypical lipomatous tumor liposarcoma |
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Just read this:
Tumors of muscle |
Smooth: leiomyoma, angioleiomyoma, smooth muscle hamartoma, leiomyosarcoma
Striated: rhabdomyomatous mesenchymal hamartoma, rhabdomyoma, ryabdomyosarcoma, malignant rhabdoid tumor |
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Just read this:
Cartilage tumors |
chondroma
subungual osteochondroma parachondroma |
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Lipoma:
Tissue type Epidemiology RF Treatment |
Lipoma
Benign, mature lipocytes wtih small uniform and eccentric nuclei MC in 4th decade and beyond RF: overweight, DM, elevated cholesterol, precending trauma, Ch12>>6,3 Tx: surgical removal |
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Painful tumor differential?
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BENGAL CO
Blue rubber bleb nevus Eccrine spiradenoma Neuroma Glomus tumor/granular cell tumor Angiolipoma/angiolipoleiomyoma Leiomyoma Cutaneous endometriosis Osteoma cutis |
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Neuro fibrolipomas are fatty tissues along a nerve trunk --> can cause compression
Which nerve most common affected? |
Median Nerve
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Spindle cell tumors are found most commonly in which population?
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Older men >55, common on shoulders, upper back, neck
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What is Madelungs disease?
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Benign symmetric lipomatosis
middle aged men, muliple large lipomas of neck, shoulders, arms |
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What is Familial multiple lipomatosis?
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AD conditions, MC 3rd decated, forearms and thigh
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What is diffuse lipomatosis?
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usually before the age of 2, diffuse infiltration of fat, +/- hemangioma and hypertrophy of underlying bone
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What is Dercum's disease?
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aka adiposis dolorosa
Obese, menopausal women with symmetric, tender fatty lesions a/w weakness and psych issues |
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Wha tis encephalocraniocutaneous lipomatosis?
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neurologic/ocular problems with unilateral lipomatous scalp tumors with overlying alopecia and connective tissue nevi
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What is proteus syndrome? Mutation?
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AKT1
AD syndrome of overgrowth of skin and bone with multiple tumors multiple lipomas, epidermal nevi, vascular malformations (death d/t DVT and PE), macrodactyly, exosteses, scoliosis, ovarian cystadenomas, testicular tumors |
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What is Bannayan Riley Rubalcaba syndrome? Mutation?
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PTEN
lipomas, vascular malformations, lentigenes or penis/vulva, verrucae, acanthosis nigricans speckled penis!!! |
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What is Cowdens syndrome? Mutation?
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PTEN
tricholemmomas, oral papillomas, sclerosing fibromas, palmar pits, follicular thyroid cancer, breast cancer, color cancer |
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What is MEN 1? Mutation?
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MEN1 gene
Facial angifibromas, gingival papules, CALMS, lipomas PARA, PIT, PAN!!!! (parathyroid, pituitary, pancreas) |
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What is Frohlich syndrome?
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lipomas, obesity and sexual infantilism (retarded grown of genitalia)
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What is Gardners syndrome? Mutation?
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APC gene
osteomas, fibromas, desmoid tumors, fibrosarcomas, EIC with pilomatrical diff, leiomyomas, intestinal polyposis --> colon cancer, CHRP, lipomas |
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Lipomas can be seen in Carneys complex, T or F?
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true
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What is a hibernoma?
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tumor of brown fat, MC in children and young adults, re arrangement of YOUR BIRTHDAY!!!
ch 11q13 |
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Mature fat cells, high riding in the upper dermis?
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nevus lipomatosis
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DDX of lipomatosus superficialis?
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Focal dermal hypoplasia (Goltz) --> dermis either absent and completely replaced by fat or significantly thinned
DIFFERENCE: GOLTZ has MISSING skin appendages LIPOMATOSUS SUPERFICIALIS retains appendages! |
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DX?
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Michelin Tire Baby Syndrome
if d/t Jaeken syndrome? Mutation in PMM2 causing disorder of glycosylation |
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associations?
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benign variant
Ehlers Danlos Prader Willi |
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Lipoblastomas are typically found on the extremities of infants and young children as shown... this is commonly confused with what entity?
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Lipoblastomas can be indistinguishable from a myxoid liposarcoma
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chromosomal abnormality in hemosiderotic fibrolipomatous tumor?
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clonal t(1,10) rearrangement in ch 1 and 3 -->
TGFBR3 and NMGEA5 |
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A patient presents with tender papules with a pseudo-Dariers sign. She has other family members with the same condition. Screening should be performed to rule out which malignancy?
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Multiple piloleiomyoma, sporadic or inherited
multiple can be indicative of Reed's syndrome --> early onset type 2 papillary renal cell carcinoma |
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Reed syndrome is caused by a mutation in what?
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Fumarate hydratase
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Leiomyomas are described as piloleiomyomas, genital leiomyomas and angioleiomyomas, clinically how do these differ?
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Piloleiomyomas: reddish-brown, pink or skin colored papules in an adolescent on extremities and trunk, painful especially in cold weather
Genital: solitary and painless Angioleiomyomas: solitary, lower extremities |
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Immunohistochemical stains for leiomyoma?
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actin, desmin (smooth muscle)
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In conrast to uterin leiomyomas, smooth muscle tumors of the skin do not express receptors for:
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estrogen or progesterone
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Leiomyosarcomas confined to the dermis have a very favorable prognosis. Subcutaneous leiomyosarcomas have what percent chance of mets? To where?
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25-40% chance mets to lung
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SLAM differential?
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SCC (Cytokeratin)
Leiomyosarcoma (actin, desmin) AFX (actin, CD68) MM (S100) |
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What is Beckers Nevus Syndrome?
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beckers nevus plus:
unilateral hyperplasia of breast or other muscle on same side of the body as the nevus |
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Mutation in Focal Dermal Hypoplasia?
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aka Goltz syndrome --> PORCN
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Mutation in a lipoblastoma?
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ch 8q11-q13, PLAG1
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Histology of which of the following subtypes of liposarcoma can be indistinguishable from a benign lipoblastoma?
well differentiated myxoid round cell pleomorphic dedifferentiated |
myxoid
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Mutation in liposarcoma?
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t(12;16)
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Mutation in rhabdomyosarcoma?
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ch13 translocation **
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DX?
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Maffucci Syndrome: multiple enchondromas, hemantiomas, chrondrosarcoma/osteosarcoma in 15-30%
IDH1 AND IDH2 genes (isocitrate dehydrogenase) |
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Multiple cutaneous leiomyomas... syndrome? What do we need to check for?
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Reed's syndrome (fumarate hydratase gene)
early onset type 2 papillary renal cell carcinoma in 20% |