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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
Just read this:

Tumors of muscle
Smooth: leiomyoma, angioleiomyoma, smooth muscle hamartoma, leiomyosarcoma

Striated: rhabdomyomatous mesenchymal hamartoma, rhabdomyoma, ryabdomyosarcoma, malignant rhabdoid tumor
Just read this:

Cartilage tumors
chondroma

subungual osteochondroma

parachondroma
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
Painful tumor differential?
BENGAL CO

Blue rubber bleb nevus
Eccrine spiradenoma
Neuroma
Glomus tumor/granular cell tumor
Angiolipoma/angiolipoleiomyoma
Leiomyoma

Cutaneous endometriosis
Osteoma cutis



Neuro fibrolipomas are fatty tissues along a nerve trunk --> can cause compression

Which nerve most common affected?
Median Nerve
Spindle cell tumors are found most commonly in which population?
Older men >55, common on shoulders, upper back, neck
What is Madelungs disease?
Benign symmetric lipomatosis

middle aged men, muliple large lipomas of neck, shoulders, arms
What is Familial multiple lipomatosis?
AD conditions, MC 3rd decated, forearms and thigh
What is diffuse lipomatosis?
usually before the age of 2, diffuse infiltration of fat, +/- hemangioma and hypertrophy of underlying bone
What is Dercum's disease?
aka adiposis dolorosa

Obese, menopausal women with symmetric, tender fatty lesions

a/w weakness and psych issues
Wha tis encephalocraniocutaneous lipomatosis?
neurologic/ocular problems with unilateral lipomatous scalp tumors with overlying alopecia and connective tissue nevi
What is proteus syndrome? Mutation?
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
What is Bannayan Riley Rubalcaba syndrome? Mutation?
PTEN

lipomas, vascular malformations, lentigenes or penis/vulva, verrucae, acanthosis nigricans

speckled penis!!!
What is Cowdens syndrome? Mutation?
PTEN

tricholemmomas, oral papillomas, sclerosing fibromas, palmar pits, follicular thyroid cancer, breast cancer, color cancer
What is MEN 1? Mutation?
MEN1 gene

Facial angifibromas, gingival papules, CALMS, lipomas

PARA, PIT, PAN!!!! (parathyroid, pituitary, pancreas)
What is Frohlich syndrome?
lipomas, obesity and sexual infantilism (retarded grown of genitalia)
What is Gardners syndrome? Mutation?
APC gene

osteomas, fibromas, desmoid tumors, fibrosarcomas, EIC with pilomatrical diff, leiomyomas, intestinal polyposis --> colon cancer, CHRP, lipomas
Lipomas can be seen in Carneys complex, T or F?
true
What is a hibernoma?
tumor of brown fat, MC in children and young adults, re arrangement of YOUR BIRTHDAY!!!

ch 11q13


Mature fat cells, high riding in the upper dermis?
nevus lipomatosis
DDX of lipomatosus superficialis?
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!
DX?
DX?
Michelin Tire Baby Syndrome

if d/t Jaeken syndrome? Mutation in PMM2 causing disorder of glycosylation
associations?
associations?
benign variant
Ehlers Danlos
Prader Willi
Lipoblastomas are typically found on the extremities of infants and young children as shown... this is commonly confused with what entity?
Lipoblastomas are typically found on the extremities of infants and young children as shown... this is commonly confused with what entity?
Lipoblastomas can be indistinguishable from a myxoid liposarcoma
chromosomal abnormality in hemosiderotic fibrolipomatous tumor?
clonal t(1,10) rearrangement in ch 1 and 3 -->

TGFBR3 and NMGEA5
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?
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?
Multiple piloleiomyoma, sporadic or inherited

multiple can be indicative of Reed's syndrome --> early onset type 2 papillary renal cell carcinoma
Reed syndrome is caused by a mutation in what?
Fumarate hydratase
Leiomyomas are described as piloleiomyomas, genital leiomyomas and angioleiomyomas, clinically how do these differ?
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
Immunohistochemical stains for leiomyoma?
actin, desmin (smooth muscle)
In conrast to uterin leiomyomas, smooth muscle tumors of the skin do not express receptors for:
estrogen or progesterone
Leiomyosarcomas confined to the dermis have a very favorable prognosis. Subcutaneous leiomyosarcomas have what percent chance of mets? To where?
25-40% chance mets to lung
SLAM differential?
SCC (Cytokeratin)
Leiomyosarcoma (actin, desmin)
AFX (actin, CD68)
MM (S100)
What is Beckers Nevus Syndrome?
beckers nevus plus:

unilateral hyperplasia of breast or other muscle on same side of the body as the nevus
Mutation in Focal Dermal Hypoplasia?
aka Goltz syndrome --> PORCN
Mutation in a lipoblastoma?
ch 8q11-q13, PLAG1
Histology of which of the following subtypes of liposarcoma can be indistinguishable from a benign lipoblastoma?

well differentiated
myxoid
round cell
pleomorphic
dedifferentiated
myxoid
Mutation in liposarcoma?
t(12;16)
Mutation in rhabdomyosarcoma?
ch13 translocation **
DX?
DX?
Maffucci Syndrome: multiple enchondromas, hemantiomas, chrondrosarcoma/osteosarcoma in 15-30%

IDH1 AND IDH2 genes (isocitrate dehydrogenase)
Multiple cutaneous leiomyomas... syndrome? What do we need to check for?
Reed's syndrome (fumarate hydratase gene)

early onset type 2 papillary renal cell carcinoma in 20%