Key Features: Cancer & Cardiac Flashcards
Carney Complex
Myxomas, psammomatous melanotic schwannoma, spotty skin
HBOC
Breast, ovarian, pancreatic, prostate <50
FAP
Hundreds of polyps
HNPCC
Colon, uterine, ovarian, other GI
Gardner Syndrome
FAP with desmoid tumors
Li-Fraumeni
Adrenocortical carcinoma, Choroid Plexus Carcinoma, Sarcoma, Breast <35
MEN1
Parathyroid, Pituitary, Pancreatic (3 P’s!)
MEN2A
Medullary thyroid cancer (MTC), pheo
MEN2B
MTC at very young age, pheo, Marfanoid habitus, mucosal neuromas
NF2
Bilateral vestibular schwannoma
PTEN
Breast, uterine, thyroid, macrocephaly, autism, penile freckling
Lhermitte-Duclos (PTEN)
Dysplastic gangliocytoma of the cerebellum
Tuberous-Sclerosis Complex
Cardiac rhabdomyoma, shagreen patch, “confetti” skin
VHL
Clear cell renal cancer, renal and pancreatic cysts, pheo/pgl
Arrhythmia/Cardiomyopathy
Sudden death, fainting, symptoms with exercise or surprise/strong emotion
CADASIL
AD, strokes
Jervell and Lange-Nielsen Syndrome
AR LQTS with deafness
Timothy Syndrome
LQTS with autism/ID
HHT Telangiectasias
nose bleeds, AVMs
Chromosomal Breakage Disorders
Increased risk for cancer, sensitivity to ionizing radiation (Cockayne excluded)
Ataxia-Telangiectasia
literally what the name says, plus dysarthria
Bloom
Small stature, high-pitched voice, butterfly skin lesions
Cockayne Syndrome
Cachectic dwarfism, premature aging, neurologic deterioration w/ early death
Fanconi Anemia
Skeletal abnormalities (thumbs/fingers esp), short stature, pancytopenia
Werner
Premature aging, early onset of age-associated diseases (diabetes, atherosclerosis, etc)
Xerdoerma Pigmentosum
Sun is bad, skin cancer
