PAGE 10 Flashcards
association of ascites and pleural effusion with ovarian fibromas
Meig / Meigs syndrome
mucinous tumors metastatic to the ovary from a mucinous gastric ca
Krukenberg tumor
remnant of the connection of the vitelline duct/omphalomesenteric duct to the distal ileum
Meckel diverticulum
AR; polydactyly with polycystic kidneys, midline CNS malformations (such as occipital encephalocele, Dandy-Walker malformation)
Meckel-Gruber syndrome
classic triad: occipital cephalocele, postaxial polydactyly, and dysplastic cystic kidneys; lethal
Meckel syndrome
oligohydramnios -> fetal compression: flattened faces, pulmonary hypoplasia, clubfeet, congenital hip dislocation, low-set ears, micrognathia
Potter sequence
congenital anomaly in which the scapula is hypoplastic and elevated
Sprengel deformity
Sprengel deformity + omovertebral vertebra, fused cervical vertebrae, hemivertebrae, kyphoscoliosis, and rib anomalies
Klippel-Feil syndrome
classic triad: short neck, low posterior hairline, and limited ROM due to fusion of cervical vertebrae
Klippel-Feil syndrome
capillary-lymphatic-venous malformation; Sturge-Weber syndrome + extensive cutaneous capillary malformations, limb hypertrophy, and vascular and/or
lymphatic malformations
Klippel-Trenaunay syndrome
triad of multiple hemangiomas, arteriovenous fistulas, and unilateral limb hypertrophy, due to bony and soft tissue overgrowth
Klippel-Trenaunay -Weber syndrome
C5 and C6 injury
Erb-Duchenne palsy
aka (massive) subchorionic thrombosis/hematoma; bulging protuberance that appears hypoechoic or cystic and that elevates and distorts the fetal surface of the placenta
Breus mole (misnomer–not a mole)
prevesical or retropubic space
space of Retzius
ovarian fossa
fossa of Waldeyer
part of the cranial end of the paramesonephric duct which may persist as a vesicular appendage to the fallopian tube
hydatid of Morgagni
raised protuberance projecting into the cyst cavity of mature cystic teratomas; aka dermoid plug
Rokitansky nodule
remnants of the embryologic wolffian duct system
Gartner duct cysts
spectrum, part is agenesis of the upper vagina and uterus
Mayer-Rokitansky-Kuster-hauser syndrome
aka PCOS
Stein-Levanthal syndrome
acute thrombophlebitis of the superficial veins of the breast
Mondor disease
primary adrenal insufficiency
Addison disease
co-existence of neonatal omphalocele or umbilical hernia in a large infant with organomegaly (liver, kidneys) and large tongue; some are more prone (although rarely) to Wilm’s tumor and liver or adrenal cortical tumors/adrenal cytomegaly
Addison disease
classic triad of macrosomia, omphalocele, and macroglossia
Beckwith-Wiedemann syndrome
gastric leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal pheochromocytoma
Carney triad (see Neuro)
primary aldosteronism; hypersecretion of aldosterone by adrenal adenoma
Conn’s syndrome
bilateral adrenal hyperplasia caused by unregulated ACTH production by a pituitary adenoma
Cushing’s disease
excessive serum cortisol (hydrocortisone and corticosterone); HTN, truncal obesity, easy bruisability, hirsutism, oligo/amenorrhea, generalized weakness, muscle atrophy, DM, and abdominal striae
Cushing’s syndrome
lipid storage disease, enlarged densely calcified adrenal glands and mild adrenocortical insufficiency; to distinguish from ordinary adrenal hemorrhage, this disease has marked hepatosplenomegaly
Wolman’s disease
rare lipidosis; plain films are usually diagnostic
Wolman disease
small kidney, predominantly because of cortical loss in the upper pole associated with cortical indentations; thought by some to be a variant of renal hypoplasia; currently thrught to be caused by scarring due to chronic pyelo rather than true congenital lesion
Ash-Upmark kidney
absence or hypoplasia of the uterus and absence or aplasia of the vagina
Rokitansky-Kuster-Hauser syndrome
form of inherited RCC also characterized by hair follicle hamartomas and frequent pneumotosis from rupture of thin-walled lung cysts; chromophobe tumors or mixed chromophobe tumors and oncocytomas
Birt-Hogg-Dube syndrome
aka tuberous sclerosis; syndrome includes epilepsy, mental retardation, and various hamartomas; renal angiomyolipomas and multiple renal cysts, retinal phakomas and cerebral hamartomas; small cutaneous angiofibromas on the face (adenoma sebaceum) / cutaneous, retinal, cardiac, cerebral hamartomas
Bourneville disease
male pseudohermaphroditism, glomerulonephritis, Wilms tumor
Drash syndrome
multiple renal cysts, multiple and bilateral RCC, adrenal pheochromocytomas, pancreatic cysts (serous cystadenomas), and pancreatic islet cell tumors/adenocarcinomas; retinal angiomas/hemangioblastomas and cerebellar hemangioblastomas; papillary cystadenomas of the epididymis
von Hippel-Lindau disease
mass effect against the kidney causing ischemia resulting to excess renin secretion and hypertension
Page kidney
hereditary nephritis/nephropathy and nerve deafness; cortical nephrocalcinosis may be seen
Alport syndrome
aka prune belly syndrome; rare; classic triad of absent abdominal musculature, undescended testicles, and urinary tract abnormalities
Eagle-Barrett syndrome
upper pole infundibulum is scissored between 2 vessels resulting in hydrocalyx and pain or, alternaltively, pressure from 1 crossing vessel resulting in
isolated hydrocalyx
Fraley syndrome
ulceration near the bladder dome that cracks and bleeds with bladder distention, which is a typical finding of interstitial cystitis at cystocopy
Hunner ulcer
nonneurogenic neurogenic bladder
Hinmann syndrome
bladder/paraureteral diverticulum occuring as a result of congenital deficiency in bladder musculature adjacent to the UVJ and commonly associated with VUR located lateral and cephalad to the ureteral orifice
Hutch diverticulum
congenital bladder diverticulum that occurs in close relationship to the ureteral orifice typically opening just above and lateral to it
Hutch diverticulum
pea-sized accessory sex glands within the urogenital diaphragm on either side of the membranous urethra
Cowper glands
connective tissue disorder which produces plaques in the tunica albuginea resulting in penile curvature and deformity
Peyronie disease
rapidly progressive polymicrobial necrotizing fasciitis involving the scrotum and perineum
Fournier gangrene
X-linked, triad: CC agenesis, chorioretinal lacunae, and infantile spasms; chroid plexus papillomas are also a part of this syndrome
Aicardi syndrome
through which pelvic tumors hematogenously spread resulting in subdural spinal lesions; through which prostate ca, just like infection, may preferentially ascend to the lumbar region/lower spine to reach the vertebrae
Batson’s venous plexus
ecchymosis over the mastoid process
Battle sign
one of the other terms for small vessel ischemic change; multi-infarct dementia
Binswanger disease
pulmonary chondromas, gastric stromal neoplasms (leiomyosarcomas), and pheochromocytoma
Carney’s syndrome
markedly elevated NAA levels (pathognomonic MR spectra) as a result of deficient aspartoacylase that metabolizes it, causing subsequent myelin destruction
Canavan’s / Canavan disease
bulbous tufts of choroid plexus in the CPA cistern extending from the 4th ventricle through its lateral recesses (normal finding)
Bochdalek’s flower basket
myxomas of the heart, breast, and skin as well as psammomatous melanotic schwannomas and osteochondromyxomas; associated with primary pigmented nodular adrenal dysplasia
Carney complex
rare AD syndrome characterized by lentiginous facial pigmentation / pigmented lesions of the skin and mucosa, cardiac, cutaneous, and other myxomas, and multiple endocrine tumors (such as pituitary adenoma) / endocrine overactivity, and Cushing syndrome; melanotic schwannomas occurs in 10% of cases
Carney complex / syndrome
cerebellar hypoplasia with cyst
Dandy-Walker complex
aka “bleeding globes”; small pseudoaneurysms due to weakening of the lenticulostriate arteries
Charcot-Bouchard aneurysms
rare; transmissible spongioform encephalopathy caused by an infectious proteinaceous particle/prion
Creutzfeldt-Jakob disease
characeristic secondary brain stem lesion; midline hematoma in the tegmentum of the rostral pons and midbrain seen in association with descending transtentorial herniation
Duret hemorrhage
centripetal perivenular extension radiating outward from the lateral ventricles, seen in MS
Dawson fingers
cloverleaf skull due to bicoronal AND bilambdoid synostoses; bulging temporal bones, towering skull, and shallow orbits
Kleeblattschadel
aka basal cell nevus syndrome; associated with medulloblastomas + dense tentorial/falcine calcifications
Gorlin syndrome
cerebral hemiatrophy typically caused by an in utero or early childhood cerebral insult; lack of ipsilateral brain growth causes the calvaria and diploic space to thicken, whereas the paranasal sinuses and mastoids become enlarged and hyperaerated
Dyke-Davidoff-Masson syndrome
other term for septooptic dysplasia
de Morsier syndrome
anomalies of the kidneys, eyes, extremities, liver, and bile ducts are common in the JSRD spectrum; hallmark: molar tooth sign
Joubert syndrome, JS-related disorders
rare AR disorder in which hydranencephaly is accompanied by glomeruloid vasculopathy of the CNS vessels and neurogenic muscular atrophy
Fowler syndrome
rare; seen in uncal herniation as a focal impression on the contralateral cerebral peduncle against the tentorial margin due to displacement of the brain stem, resulting in peduncular hemorrhage or infarction; mass effect on CN III and compression of the contralateral cerebral peduncle cause characteristic blown pupil with ipsilateral hemiparesis
Kernohan notch
proton MRS images obtained from the basal ganglia, occipital cortex, and brainstem show elevations in lactate, which are most pronounced in regions where abnormalities are seen with routine T2 MRI
Leigh syndrome
olfactory aplasia/hypoplasia + hypogonadotropic hypogonadism; pituitary gland hypoplasia as well as visual and septal anomalies are common
Kallman syndrome
intracorneal deposit of copper, which is virtually diagnostic of Wilson disease
Kayser-Fleischer ring
prominent basal arachnoid membrane that forms trabeculae that cross the suprasellar cistern and cover the hypothalamus and diaphragm sellae
Liliequist membrane
lacunar skull; focal calvarial thinning and scooped out appearance
Luckenschadel
mitochondrial enzyme defect
Leigh disease
aka dysplastic cerebellar gangliocytoma
Lhermitte-Duclos disease
iris hamartomas
Lisch nodules
histologically mixed neoplasms (malignant peripheral nerve sheath tumors with rhabdomyoblastic and other heterologous elements) that are very characteristic of NF1
malignant Triton tumors
Brant: rare form of demyelination usually involving the medial zone of the corpus callosum seen most frequently in alcoholics, Osborn: rare disorder characterized by osmotic demyelination and later necrosis of the corpus callosum
Marchiafava-Bignami disease
location of the trigeminal ganglion; just posterolateral to the cavernous sinus
Meckel’s cave
persistent embryonic precursor of the vein of Galen
median prosencephalic vein of Markowski
prominent posterior anastomotic vein that courses inferolaterally over the temporal lobe to drain into the transverse sinus
vein of Labbe
persistent embryonic precursor of the vein of Galen
median prosencephalic vein of Markowski
formed by the union of the bilateral internal cerebral veins and basal veins of Rosenthal in the quadrigeminal cistern; unites with the inferior sagittal sinus at the falcotentorial junction to form the straight sinus
vein of Galen
dominant anastomotic superior cortical vein that receives the superficial middle cerebral vein and courses upward from the sylvian fissure to join the SSS
vein of Trolard
classic lissencephaly + severe facial deformities; frontal bossing, hypertelorism, upturned nose, small jaw, and prominent upper lip with thin vermilion border
Miller-Dieker syndrome
paralysis of upward gaze brought about by compression of the superior colliculus; can be seen in germinomas
Parinaud syndrome
devastating disease of childhood and of unknown etiology, usually involving one hemisphere showing focal cortical swelling which later progresses to dramatic atrophy
Rasmussen encephalitis
rapid enlargement of a pituitary adenoma following bilateral adrenalectomy, presentation of corticotroph tumors
Nelson syndrome
transformation of CLL into diffuse large non-Hodgkin lymhoma
Richter syndrome
antiphospholipid syndrome with widespread livedo reticularis and ischemic cerebrovascular episodes
Sneddon syndrome
largest of the medial lenticulostriates of the ACA, which supplies the caudate head/anterior internal capsule region
recurrent artery of Heubner
ischemic necrosis of anterior pituitary due to severe postpartum hemorrhage, which may result to secondary empty sella; rare variant of pituitary apoplexy
Sheehan syndrome
encephalo-trigeminal angiomatosis
Sturge-Weber syndrome
other term for focal cortical dysplasia
Taylor cortical dysplasia
intraocular (most commonly subhyaloid) hemorrhage that is found in 12-13% of patients with aneurysmal SAH
Terson syndrome
Osborn: triad of congenital muscular dystrophy, brain anomalies (primarily cobblestone cortex), and ocular abnormalities
Walker-Warburg syndrome
involvement of medulla in PICA infarction; ataxia, facial numbness, Horner syndrome, dysphagia, and dysarthria
Wallenburg syndrome
Pedia: most severe cerebellar hypoplasia is seen with WWS, also associated with occipital encephalocele
Walker-Warburg syndrome
seen in LV enlargment on a lateral radiograph; when the LV extends >1.8 cm posterior to the IVC at a level 2 cm cephalad to the intersection of the LV and
Hoffman-Rigler sign
reservoirs created by the closure of the aortic valve and from which the right and left coronary arteries arise
sinuses of Valsalva
ASD associated with MS; combination of MS with a pre-existing ASD, resulting to marked right-sided enlargement
Lutembacher syndrome
lateral retropharyngeal nodes
nodes of Rouviere
perforated thin eustachean valve that partially guards the opening of IVC in the RA
network of Chiari
triad of acute onset of ocular movement abnormalities, ataxia, and confusion
Wernicke encephalopathy
Wernicke encephalopathy + persistent learning and memory deficits
Wernicke-Korsakoff syndrome
separated the intra- and extraconal spaces
annulus of Zinn
AVMs are found in both the retina and brain
Wyburn-Mason syndrome
other term of mitral valve prolapse aka floppy mitral valve
Barlow syndrome
SMALL and MEDIUM vessel system vasculitis; inflammatory condition of the coronary arteries, probably attributable to prior viral syndrome, which results
Kawasaki syndrome
heart-hand syndrome; CHD (ASD [MC], VSD, or PS) associated with radial ray hypoplasia (hypoplasia of the UE, specifically, radius and thumb -
Holt-Oram syndrome
noninfectious valvular vegetations that may be seen in association with SLE
Libman-Sack vegetations
morbid obesity affecting pulmonary mechanics, which may be a cause of cor pulmonale
Pickwickian syndrome
angina secondary to prolonged coronary spasm
Prinzmetal variant angina
incomplete transposition of the great vessels; the pulmonary artery arises from both the right and left ventricles and overrides the VSD; aka DORV type II
Taussig-Bing anomaly
rare; focal or complete absence of the RV myocardium leading to an RV that becomes a thin-walled fibroelastic bag
Uhl’s disease
hypercalcemia, efin facies, mentral retardation, and supravalvular aortic stenosis
Williams syndrome
rare acquired (initially thought to be congenital) cardiomyopathy in infants or adults with parchment-like thinning of the RV; aka arrythmogenic RV
Uhl anomaly
congenital aplasia of RV myocardium, RV CMY
Uhl syndrome (anomaly)
severe pulmonary stenosis with intact interventricular septum (so ASD or patent foramen ovale) and right-to-left atrial shunt
trilogy of Fallot
dilatation at the origin of an aberrant right subclavian artery
diverticulum of Kommerell
least vascular area of the kidney
Brodel plane
example of aortoiliac occlusive disease - bilateral buttock claudication, impotence, absent femoral pulses; typically associated with the occlusion of the infrarenal abdominal aorta
Leriche syndrome
variable communication between SMA and IMA located more centrally in the mesentery than the marginal artery
arc of Rioloan
provides anastomosis between the right colic, right and left branches of the middle colic, and the left colic arteries
marginal artery of Drummond
short ventral artery between the main celiac and SMA representing a persistent fetal communication
arc of Buehle
rare malignant neoplasm arising from the chest wall of CHILDREN and YOUNG ADULTS, which arises from primitive neuro-ectodermal rests in the chest wall; very agressive with a high mortality rate
Askin tumor
compression of the left iliac vein by the right iliac artery crossing over it
May-Thurner syndrome
compression of the subclavian vein by a cervical rib, soft tissue anomaly, or scar tissue after clavicle fracture -> thrombosis and swelling
Paget-Schroetter syndrome
rare cause of lung cysts or bullae; skin fibrofolliculomas, malignant renal tumors, and thin-walled lung cysts
Birth-Hogg-Dube syndrome
surgical anastomosis of the proximal subclavian artery to the ipsilateral pulmonary artery; causes unilater rib notching
Blalock-Taussig procedure
channels bridging preterminal bronchioles with alveoli
canals of Lambert
interalveolar channels
pores of Kohn
persistent communication of an enteric cyst with the spinal canal
canal of Kovalevski
Castleman disease
angiofollicular LN hyperplasia
calcified granuloma/Ghon focus or lesion + calcified LN or calcified Ghon complex
Ranke complex
multiple peripheral cavitating nodules; nodules in the lungs of coal miners and silica or asbestos workers with RA as a hypersensitivity response to inhaled dust particles; rheumatoid pneumoconiosis
Caplan syndrome
allergic angiitis and granulomatosis
Churg-Strauss syndrome
aka postmyocardial infarction syndrome; autoimmune, pleural and pericardial effusion/inflammation after MI
Dressler syndrome
congenital defect in COLLAGEN SYNTHESIS associated with joint laxity, skin stretchabillity, aneurysms, and mitral regurgitation
Ehlers-Danlos syndrome
pleura-based wedge-shaped; typically in the posterior or lateral costrophrenic sulcus; blunted apex of the wedge points toward the occluded feeding vessel
Hampton hump
uncorrected left-to-right shunts, hypertrophy of the pulmonary arterioles (medial hyperplasia and intimal fibrosis) -> increased pulmonary vascular resistance
Eisenmenger syndrome
granuloma/Ghon focus or lesion + ipsilateral lymphadenopathy
Ghon complex
autoimmune, damages the alveolar and renal GBM by a cytotoxic antibody
Goodpasture syndrome
granuloma (so parenchymal) (pag lesion/focus, isang finding lang. pag complex, more than 1 finding)
Ghon lesion/focus
other term for acute interstitial pneumonia
Hamman-Rich syndrome
Kartagener syndrome
triad of sinusitis, situs inversus/dextrocardia, and bronchiectasis
shorter (1-2 cm) thin lines, PERIPHERAL and PERPENDICULAR TO THE PLEURA near the costrophrenic angle; represent thickened peripheral subpleural
interlobular septa
Kerley B lines
parotid enlargement, uveitis, facial nerve paralysis
Heerfordt’s syndrome
rare; localized PERIPHERAL OLIGEMIA w/ or w/o distended proximal vessels
Westermark sign
linear, 2-6 cm long, <1-mm-thick, OBLIQUELY oriented and course TOWARD THE HILA; correspond to distended perivenous and bronchoarterial lymphatics / thickening of the central connective tissue
Kerley A lines
NETWORK of thickened interlobular septa; random reticular lines throughout the lungs
Kerley C lines
bronchial endocrine cells; thymic cells of neural crest origin; aka amine precursor uptake and decarboxylation (APUD) cells
Kulchitsky cells
rare form of endomyocardial fibrosis associated with eosinophilia
Loffler endocardial fibrosis
simple pulmonary eosinophilia / acute allergic eosinophilic pneumonia associated with parasite infestation; consolidation is typically migratory
Loffler syndrome
triad of B hilar AD, erythema nodosum, & polyarticular arthritis (in sarcoidosis)
Lofgren’s syndrome
uncommon finding on the frontal radiograph in LUL atelectasis; crescent of air along the left upper mediastinum, which represents a portion of the overinflated superior segment of the LLL interposed between the aortic arch medially and the collapsed upper lobe laterally
Luftsiche
optical illusion caused by a retinal reinforcement response
Mach bands / effec
extra-alveolar air first collects within the bronchovascular interstitium and then dissects centrally to the hilum and mediastinum
Macklin effect
gastric fluid aspiration
Mendelson syndrome
benign pleural effusion and pelvic tumor
Meigs syndrome
autoimmune, necrotizing granulomatous vasculitis involving the upper and lower respiratory tracts and kidneys
Wegener granulomatosis
Pulmo: unilateral hyperlucent lung that follows infection with adenovirus, measles, or mycoplasma during infancy/early childhood; produced by asymmetric obliterative/constrictive bronchiolitis with severe air trapping and secondary unilateral pulmonary artery hypoplasia, Pedia: acquired hypoplastic lung that develops following severe obliterative bronchiolitis, leading to bronchiolar obstruction, bronchiectasis, and distal airspace destruction
Swyer-James syndrome / Macleod’s syndrome
Sclerodermaa with other connective tissue dse
Overlap syndrome
tracheobronchomegaly; congenital disorder of the elastic and smooth muscle components of the tracheal wall
Mounier-Kuhn syndrome
unilateral absence/hypoplasia of the pectoralis muscle (most frequently sternocostal portion of the pectoralis major), ipisilateral hand and digit anomalies,
including symbrachydactyly, and rib anomalies; there may be associated aplasia of the ipsilateral breast
Poland syndrome
peripheral neoplasm arising in the superior sulcus/lung apex indented superiorly by the subclavian artery
Pancoast tumor
hypervascularity of any chronic infection Pulmo Reid index ratio of mucous gland thickness to bronchial wall thickness; abnormally high index (>50%) correlates sttrongly with symptoms of excess mucus production
Reid index
small vessel vasculitis of the eyes, joints, skin, CNS, and intestinal tract
Behcet disease
Pulmo: erosion of a TB cavitary focus into a branch of the pulmonary artery can produce this aneurysm / Cardio: caused by TB and systemic
Rasmussen aneurysm
other name for NF 1
von Recklinghausen disease
GI: obstruction to hepatic venous outflow involving 1 or more hepatic veins, Vascular: occlusion of the hepatic veins caused by hepatic venous or IVC
Budd-Chiari syndrome
congenital saccular ectasia of the IHBD w/o biliary obstruction; associated with medullary sponge kidney and ARPKD
Caroli disease
proximal gallstone impaction resulting in duodenal or pyloric obstruction
Bouveret’s syndrome
fever, pain, and jaundice (Acute bacterial cholangitis)
Charcot triad
dorsal pancreatic duct, drains major portion of secretions (body and tail) into minor papilla
duct of Santorini
thin lucent line traversing orifice of ulcer (think H=Harmless=benign)
Hampton line
ventral pancreatic duct, drains minor portion of secretions (head and uncinate process) into major papilla in association with CBD
duct of Wirsung
Siderotic nodules - small hemorhages in the spleen caused by portal HPN resulting in foci of hemosiderin deposits
Gamna Gandy bodies
congenital asplenia assoc with bilateral right-sidedness, midline liver, and bilateral 3 lobed lungs
Ivemark syndrome
major sign of ascites on radiograph; medial displacement of the lateral edge of the liver
Hellmer’s sign
MC LYSOSOMAL storage disease, deficient glucosylceramidase
Gaucher’s disease
asplenia; associated with GU and endocrine abnormalities
Ivemark’s syndrome
large flat-based ulcer with heaped-up edges that fold inward to trap a lens-shaped barium collection that is convex toward the lumen (think M=Malignant)
Carmen/Carman meniscus sign
endocrine cells from which carcinoid tumors arise; aka enterochromaffin cells
Kulchitsky cells
spontaneous perforation/rupture of esophageal wall after severe, prolonged, forceful vomiting; vertical tear along the left (pag adults, left. pag pedia, right) posterolateral wall just above the EGJ, leading to acute mediastinitis
Boerhaave syndrome
Hilar cholangiocarcinoma
Klatskin tumor
biliary obstruction from a gallstone in the cystic duct eroding into the adjacent common duct and causing an inflammatory mass that obstructs the common duct
Mirizzi syndrome
malignancy in the ovary that metastasized from a primary site, classically the GIT, although it can arise in other tissues such as the breast
Krukenburg tumors
tear, only the MUCOSA and not the full thickness of the esophagus, violent retching
Mallory-Weiss tear
Giant hypertrophic gastritis
Menetrier disease
Colonic pseudoobstruction - acute colonic distention with abd pain and distention without mechanical obstruction
Ogilvie Syndrome
Hereditary hemorrhagic telangiectasia; can present with pseudocirrhosis
Osler-Weber-Rendu Syndrome
hereditary hemorrhagic telangiectasia characterized by epistaxis, mucocutaneous telangiectases, and visceral (including pulmonary) AVMs
Rendu-Osler-Weber disease
multiple inflammatory (hamartomatous din ata to) polyps involving the SI in 50% of cases and always the colon and stomach; skin: nail atrophy, brownish pigmentation, and alopecia
Cronkhite-Canada syndrome
multiple HAMARTOMATOUS polyps in the SI, colon, and stomach; melanin freckles on the face, palmar aspect of fingers and toes, and mucous membranes
Peutz-Jeghers syndrome