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Conditions and Features

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Condition
Features
Congenital midline cystic neck mass   thyroglossal duct cyst  
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Neck mass in the submental area   Dermoid cysts  
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soft fluid filled mass at the base of the neck   Cystic hygroma: congenital malformation of the lymphatic tissue  
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Neck mass, laterally located along the anterior edge of the Sternocleidomastoid   Brachial cleft cysts  
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Addison’s Disease   Primary adrenocortical deficiency  
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Addisonian Anemia   Pernicious anemia (antibodies to intrinsic factor or parietal cells  IF  Vit B12  megaloblastic anemia)  
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Albright’s Syndrome   Polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls  
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Alport’s Syndrome   Hereditary nephritis with nerve deafness  
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Alzheimer’s   Progressive dementia  
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Argyll-Robertson Pupil   Loss of light reflex constriction (contralateral or bilateral); “Prostitute’s Eye” – accommodates but does not react; Syphilis; Lesion pretectal region of superior colliculus  
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Arnold-Chiari Malformation   Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele  
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Barrett’s   Columnar metaplasia of lower esophagus (* risk of adenocarcinoma)- constant gastroesophageal reflux  
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Bartter’s Syndrome   Hyperreninemia  
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Becker’s Muscular Dystrophy   Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein)  
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Bell’s Palsy   CNVII palsy (entire face; recall that UMN lesion only affects lower face)  
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Berger’s Disease   IgA nephropathy causing hematuria in kids, usually following infection  
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Bernard-Soulier Disease   Defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)  
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Berry Aneurysm   Circle of Willis (subarachnoid bleed) Anterior Communicating artery; Often associated with ADPKD  
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Bowen’s Disease   Carcinoma in situ on shaft of penis (* risk of visceral ca) [compare w/ Queyrat]  
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Brill-Zinsser Disease   Recurrences of rickettsia prowazaki up to 50 yrs later  
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Briquet’s Syndrome   Somatization disorder; Psychological: multiple physical complaints without physical pathology  
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Broca’s Aphasia   Motor Aphasia (area 44 & 45) intact comprehension  
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Brown-Sequard   Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsi loss of consc. Proprio)  
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Bruton’s Disease   X-linked agammaglobinemia ( B cells)  
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Budd-Chiari   Post-hepatic venous thrombosis = ab pain; hepatomegaly; ascites; portal HTN; liver failure  
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Buerger’s Disease   Acute inflammation of medium and small arteries of extremities * painful ischemia * gangrene ; Seen almost exclusively in young and middle-aged men who smoke.  
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Burkitt’s Lymphoma   Small noncleaved cell lymphoma (EBV); 8:14 translocation; Seen commonly in jaws, abdomen, retroperitoneal soft tissues; Starry sky appearance  
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Caisson Disease   Nitric gas emboli  
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Chagas’ Disease   Trypansoma infection - cardiomegaly with apical atrophy, achlasia  
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Chediak-Higashi Disease   (AR) Phagocyte Deficiency = defect in microtubule polymerization; Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph  
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Conn’s Syndrome   Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis);  renin  
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Cori’s Disease   Type III Glycogenosis – Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def.  Glycogen)  
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Creutzfeldt-Jakob   Prion infection * cerebellar & cerebral degeneration  
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Crigler-Najjar Syndrome   Congenital hyperbilirubinemia (unconjugated); Glucuronyl transferase deficiency. Can progress to Kernicterus; Less severe form will respond to Phenobarbital therapy  
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Crohn’s   IBD; ileocecum, transmural, skip lesions, cobblestones, (UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, * colon ca risk); Clinic: ab pain & diarrhea; fever; malab.; fistula b/t intestinal loops & abd structures  
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Curling’s Ulcer   Acute gastric ulcer associated with severe burns  
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Cushing’s Disease   Hypercorticism 2* to * ACTH from pituitary (basophilic adenoma); Syndrome: hypercorticism of all other causes (1* adrenal or ectopic); moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia  
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Cushing’s Ulcer   Acute gastric ulcer associated with CNS trauma  
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de Quervain’s Thyroiditis   Self-limiting focal destruction (subacute thyroiditis)  
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DiGeorge’s Syndrome   Failure of 3rd & 4th pharyngeal pouches formation: Thymus & Parathyroid; Thymic hypoplasia * T-cell deficiency; Hypoparathyroidism  Tetany  
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Dressler’s Syndrome   Post-MI Fibrinous Pericarditis (autoimmune)  
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Dubin-Johnson Syndrome   Congenital hyperbilirubinemia (conjugated) = bilirubin transposrt is defective not conjugation; Striking brown-to-black discoloration of the liver  
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Duchenne Muscular Dystrophy   Deficiency of dystrophin protein * MD (X-linked recessive)  
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Edwards’ Syndrome   Trisomy 18; Rocker-bottom feet, low ears, small lower jaw, heart disease  
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Ehler’s-Danlos   Defective collagen  
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Eisenmenger’s Complex   Late cyanotic shunt (RL) pulmonary HTN & RVH 2 to long-standing VSD, ASD, or PDA  
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Erb-Duchenne Palsy   Trauma to superior trunk of brachial plexus Waiter’s Tip  
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Ewing Sarcoma   Malignant undifferentiated round cell tumor of bone in boys <15yoa - t11;22  
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Eyrthroplasia of Queyrat   Carcinoma in situ on glans penis  
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Fanconi’s Syndrome   Impaired proximal tubular reabsorption 2* to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)  
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Felty’s Syndrome   Rheumatoid arthritis, neutropenia, splenomegaly  
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Gardner’s Syndrome   AD = adenomatous polyps of colon, osteomas & soft tissue tumors  
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Gaucher’s Disease   Lysosomal Storage Disease (glucocerebrosidase deficiency – glucocerebroside accumulation); Hepatosplenomegaly, femoral head & long bone erosion, anemia  
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Gilbert’s Syndrome   Benign congenital hyperbilirubinemia (unconjugated) = d glucuronyl transferase activity  
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Glanzmann’s Thrombasthenia   Defective glycoproteins on platelets = deficient platelet aggregation  
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Goodpasture’s   Autoimmune: ab’s to glomerular & alveolar basement membranes. Seen in men in their 20’s  
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Grave’s Disease   Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH – High T3 / T4  
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Guillain-Barre   Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)  
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Hamman-Rich Syndrome   Idiopathic pulmonary fibrosis. Can see honey comb lung.  
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Hand-Schuller-Christian   Chronic progressive histiocytosis  
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Hashimoto’s Thyroiditis   Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH  
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Hashitoxicosis   Initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism  
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Henoch-Schonlein purpura   Hypersensivity vasculitis = allergic purpura. Lesions have the same age.; Hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement); Associated with upper respiratory infections  
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Hirschprung’s Disease   Aganglionic megacolon  
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Horner’s Syndrome   Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2* to a Pancoast tumor)  
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Huntington’s (Chromosome 4)   AD: Progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex  GABA  
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Jacksonian Seizures   Epileptic events originating in the primary motor cortex (area 4)  
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Job’s Syndrome   Immune deficiency: neutrophils fail to respond to chemotactic stimuli ; Defective neutrophilic chemotactic response = repeated infections; Commonly seen in light-skinned, red-haired girls; ’d IgE levels  
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Kaposi Sarcoma   Malignant vascular tumor (HHV8 in homosexual men)  
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Kartagener’s Syndrome   Immotile cilia 2 to defective dynein arms (infection, situs inversus, sterility)  
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Kawasaki Disease   Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)  
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Klinefelter’s Syndrome   47, XXY: Long arms, Sterile, Hypogonadism  
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Kluver-Bucy   Bilateral lesions of amygdala (hypersexuality; oral behavior)  
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Krukenberg Tumor   Adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries  
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Laennec’s Cirrhosis   Alcoholic cirrhosis  
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Lesch-Nyhan   HGPRT deficiency; Gout, retardation, self-mutilation  
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Letterer-Siwe   Acute disseminated Langerhans’ cell histiocytosis  
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Libman-Sacks   Endocarditis with small vegetations on valve leaflets; Associated with SLE  
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Lou Gehrig’s   Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons  
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Mallory-Weis Syndrome   Bleeding from esophagogastric lacerations 2* to wretching (alcoholics)  
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Marfan’s   Connective tissue defect: defective Fibrillin gene (Dissecting aortic aneurysm, subluxation of lenses)  
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McArdle’s Disease   Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency =  Glycogen)  
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Meckel’s Diverticulum   Rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population; Embryonic duct origin; may have ectopic tissue: gastric/pancreatic (remnant of vitteline duct/yolk stalk)  
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Meig’s Syndrome   Triad: ovarian fibroma, ascites, hydrothorax – associated w/ fibroma of ovaries  
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Menetrier’s Disease   Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)  
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Monckeberg’s Arteriosclerosis   Calcification of the media (usually radial & ulnar aa.)  
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Munchausen Syndrome   Factitious disorder (consciously creates symptoms, but doesn’t know why)  
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Nelson’s Syndrome   1* Adrenal Cushings * surgical removal of adrenals * loss of negative feedback to pituitary * Pituitary Adenoma  
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Niemann-Pick   Lysosomal Storage Disease (sphingomyelinase deficiency – sphingomyelin accumulation); “Foamy histiocytes”  
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Osler-Weber-Rendu Syndrome   Hereditary Hemorrhagic Telangiectasia. Seen in the Mormon’s of Utah.  
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Paget’s Disease   Abnormal bone architecture (thickened, numerous fractures * pain)  
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Pancoast Tumor   Bronchogenic tumor with superior sulcus involvement * Horner’s Syndrome  
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Parkinson’s   Dopamine depletion in nigrostriatal tracts  
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Peutz-Jegher’s Syndrome (AD)   Melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine  
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Peyronie’s Disease   Subcutaneous fibrosis of dorsum of penis  
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Plummer’s Syndrome   Hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs)  
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Plummer-Vinson   Esophageal webs & iron-deficiency anemia, spoon-shaped nails,  SCCA of esophagus  
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Pompe’s Disease   Type II Glycogenosis – Glycogen storage disease * cardiomegaly ( 1,4 Glucosidase deficiency:  Glycogen)  
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Pott’s Disease   Tuberculous osteomyelitis of the vertebrae  
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Potter’s Complex   Renal agenesis * oligohydramnios * hypoplastic lungs, defects in extremities  
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Reiter’s Syndrome   Urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular  
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Reye’s Syndrome   Microvesicular fatty liver change & encephalopathy; 2* to aspirin ingestion in children following viral illness, especially VZV  
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Riedel’s Thyroiditis   Idiopathic fibrous replacement of thyroid  
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Rotor Syndrome   Congenital hyperbilirubinemia (conjugated); Similar to Dubin-Johnson, but no discoloration of the liver  
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Sezary Syndrome   Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)  
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Shaver’s Disease   Aluminum inhalation  lung fibrosis  
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Sheehan’s Syndrome   Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery  
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Shy-Drager   Parkinsonism with autonomic dysfunction & orthostatic hypotension  
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Simmond’s Disease   Pituitary cachexia – can occur from either pituitary tumors or Sheehan’s  
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Sipple’s Syndrome   MEN type IIa = pheochromocytoma, thyroid medullary CA, hyperparathyroidism  
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Sjogren’s Syndrome   Triad: dry eyes, dry mouth, arthritis  risk of B-cell lymphoma  
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Spitz Nevus   Juvenile melanoma (always benign)  
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Stein-Leventhal   Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = LH secretion  
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Stevens-Johnson Syndrome   Erythema multiforme, fever, malaise, mucosal ulceration (often 2 to infection = mycoplasma or sulfa drugs)  
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Still’s Disease   Juvenile rheumatoid arthritis (absence of rheumatoid factor)  
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Takayasu’s arteritis   Aortic arch syndrome; Loss of carotid, radial or ulnar pulses = pulseless disease. Night sweats.; Common in young Asian females  
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Tay-Sachs (AR)   Gangliosidosis (hexosaminidase A deficiency * GM2 ganglioside) Cherry Red Spots of the Macula  
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Tetralogy of Fallot   1.VSD, 2.overriding aorta, 3.pulmonary artery stenosis, 4.right ventricular hypertrophy  
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Tourette’s Syndrome   Involuntary actions, both motor and vocal Txt w/ Pimozide  
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Turcot’s Syndrome   Colon adenomatous polyps plus CNS tumors  
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Turner’s Syndrome   45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.  
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Vincent’s Infection   “Trench mouth” – acute necrotizing ulcerative gingivitis due to Fusobacterium  
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Von Gierke’s Disease   Type I Glycogenosis – Glycogen storage disease (G6Ptase deficiency) – Glycogen accumulaiton  
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Von Hippel-Lindau   Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina; Adenomas of the viscera, especially  Renal Cell Carcinoma; Chromosome 3p  
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Von Recklinghausen’s   Neurofibromatosis & café au lait spots & Lisch nodules (Chromosome 17)  
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Von Recklinghausen’s Disease of Bone   Osteitis fibrosa cystica (“brown tumor”) 2* to hyperparathyroidism = osteoclastic resorption w/fibrous replacement  
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Von Willebrand’s Disease (AD)   Defect in platelet adhesion 2* to deficiency in vWF. aPPT,  Bleed time  
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Waldenstrom’s macroglobinemia   Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) Dutcher bodies  
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Wallenberg’s Syndrome   Posterior Inferior Cerebellar Artery (PICA) thrombosis “Medullary Syndrome”; Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp  
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Waterhouse-Friderichsen   Adrenal insufficiency 2* to DIC; DIC 2* to meningiococcemia  
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Weber’s Syndrome   Paramedian Infarct of Midbrain; Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)  
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Wegener’s Granulomatosis   Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.  
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Weil’s Disease   Icteric Leptospirosis non-icteric prgresses to renal failure & myocarditis; Dark field microscopy for dx  
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Wermer’s Syndrome   MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary  
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Wernicke’s Aphasia   Sensory Aphasia impaired comprehension  
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Wernicke-Korsakoff Syndrome   Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) (confusion, ataxia, ophthalmoplegia)  
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Whipple’s Disease   Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis  
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Wilson’s Disease   Hepatolenticular degeneration (copper accumulation [Txt w/ Penicillamine ] & decrease in ceruloplasmin); Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change ; Chromosome 13  
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Wiskott-Aldrich Syndrome   Immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema);  IgM w/  IgA  
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Wolff-Chaikoff Effect   High iodine level (*)’s thyroid hormone synthesis  
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Zenker’s Diverticulum   Esophageal; cricopharyngeal muscles above UES  
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Zollinger-Ellison   Gastrin-secreting tumor of pancreas (or intestine) * * acid * recurrent ulcers  
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Roger’s Disease   Interventricular septal defect  
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Barlow’s Syndrome   Floppy vale syndrome – women b/t 20-40 yoa  
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Bracht-Wachter Lesions   Minute abscesses found in subacute bacterial endocarditis  
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Lutembacher’s Syndrome   Combination of septum secundum atrial septal defect w/ mitral stenosis  
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Schmidt’s Syndrome   Autoimmnue thyroid Disease (Hashimoto’s ) & insulin-dependent diabetes  
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