PPG LISTS©:Named Diseases List
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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
·  Pathognomonic for 3°Syphilis

Arnold-Chiari Malformation

·  cerebellar tonsil herniation

Barrett’s

·  columnar metaplasia of lower esophagus ( ­ risk of adenocarcinoma)

Bartter’s Syndrome

·  hyperreninemia

Becker’s Muscular Dystrophy

·  similar to Duchenne, but less severe (deficiency in dystrophin protein)

Bell’s Palsy

·  CNVII palsy   (entire face; recall that UMN lesion only affects lower face)

Berger’s Disease

·  IgA nephropathy

Bernard-Soulier Disease

·  defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)

Berry Aneurysm

·  circle of Willis (subarachnoid bleed)
·  often associated with ADPKD

Bowen’s Disease

·  carcinoma in situ on shaft of penis ( ­ risk of visceral ca)

Briquet’s Syndrome

·  somatization disorder
·  psychological: multiple physical complaints without physical pathology

Broca’s Aphasia

·  Motor Aphasia intact comprehension

Brown-Sequard

·  hemisection of cord  (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)

Bruton’s Disease

·  X-linked agammaglobinemia

Budd-Chiari

·  post-hepatic venous thrombosis

Buerger’s Disease

·  acute inflammation of small, medium arteries ® painful ischemia ® gangrene

Burkitt’s Lymphoma

·  small noncleaved cell lymphoma   EBV
·  8:14 translocation

Caisson Disease

·  gas emboli

Chagas’ Disease

·  Trypansoma infection  sleeping disease, cardiomegaly with apical atrophy, achlasia

Chediak-Higashi Disease

·  Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy
·  repeated infections

Conn’s Syndrome

·  primary aldosteronism

Cori’s Disease

·  glycogen storage disease  (debranching enzyme deficiency)

Creutzfeldt-Jakob

·  prion infection ® cerebellar & cerebral degeneration

Crigler-Najjar Syndrome

·  congenital hyperbilirubinemia (unconjugated)
·  glucuronyl transferase deficiency

Crohn’s

·  IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, ­ colon cancer risk)

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)

Cushing’s Ulcer

·  acute gastric ulcer associated with CNS trauma

de Quervain’s Thyroiditis

·  self-limiting focal destruction (subacute thyroiditis)

DiGeorge’s Syndrome

·  thymic hypoplasia ® T-cell deficiency
·  hypoparathyroidism

Down’s Syndrome

·  trisomy 21 or translocation

Dressler’s Syndrome

·  Post-MI Fibrinous Pericarditis  autoimmune

Dubin-Johnson Syndrome

·  congenital hyperbilirubinemia (conjugated)
·  striking brown-to-black discoloration of the liver (centilobular portion)

Duchenne Muscular Dystrophy

·  deficiency of dystrophin protein ® MD    X-linked recessive

Edwards’ Syndrome

·  trisomy 18
·  rocker-bottom feet, low ears, 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

·  undifferentiated round cell tumor of bone

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

·  adenomatous polyps of colon plus osteomas & soft tissue tumors

Gaucher’s Disease

·  Lysosomal Storage Disease  glucocerebrosidase deficiency

·  hepatosplenomegaly, femoral head & long bone erosion, anemia

Gilbert’s Syndrome

·  benign congenital hyperbilirubinemia (unconjugated)

Glanzmann's Thrombasthenia

·  defective glycoproteins on platelets

Goodpasture’s

·  autoimmune: ab’s to glomerular & alveolar basement membranes

Grave’s Disease

·  autoimmune hyperthyroidism (TSI)

Guillain-Barre

·  idiopathic polyneuritis   (ascending muscle weakness & paralysis; usually self-limiting)

Hamman-Rich Syndrome

·  idiopathic pulmonary fibrosis

Hand-Schuller-Christian

·  chronic progressive histiocytosis

Hashimoto’s Thyroiditis

·  autoimmune hypothyroidism

Hashitoxicosis

·  initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism

Henoch-Schonlein purpura

·  hypersensivity vasculitis
·  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 pancoaset tumour)

Huntington’s

·  progressive degeneration of caudate nucleus, putamen & frontal cortex; AD

Jacksonian Seizures

·  epileptic events originating in the primary motor cortex (area 4)

Job’s Syndrome

·  immune deficiency: neutrophils fail to respond to chemotactic stimuli

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 (lips, oral mucosa)

Klinefelter’s Syndrome

·  47, XXY

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

McArdle’s Disease

·  glycogen storage disease (muscle phosphorylase deficiency)

Meckel’s Diverticulum

·  rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
·  embryonic duct origin; may contain ectopic tissue (gastric, pancreatic, etc.)

Meig’s Syndrome

·  Triad: ovarian fibroma, ascites, hydrothorax

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
·  “foamy histiocytes”

Osler-Weber-Rendu Syndrome

·  Hereditary Hemorrhagic Telangiectasia

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

·  melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of small intestine

Peyronie’s Disease

·  subcutaneous fibrosis of dorsum of penis

Pick’s Disease

·  progressive dementia similar to Alzheimer’s

Plummer’s Syndrome

·  hyperthyroidism, nodular goiter, absence of eye signs  (Plummer’s = Grave’s - eye signs)

Plummer-Vinson

·  esophageal webs & iron-deficiency anemia, ­ SCCA of esophagus

Pompe’s Disease

·  glycogen storage disease ® cardiomegaly

Pott’s Disease

·  tuberculous osteomyelitis of the vertebrae

Potter’s Complex

·  renal agenesis ® oligohydramnios ® hypoplastic lungs, defects in extremities

Raynaud’s

·  Disease: recurrent vasospasm in extremities
·  Phenomenon: 2 ° to underlying disease (SLE or scleroderma)

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

Riedel’s Thyroiditis

·  idiopathic fibrous replacement of thyroid