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Condition & Feature

Conditions and 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 (RL) 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
Created by: Bijan39