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