Abdominal pain, ascites, hepatomegaly

Posthepatic venous thrombosis

*Looks a lot like right-sided heart failure, except for lack of JVD.

Achilles tendon xanthoma

Increased LDL and cholesterol

Adrenal hemorrhage, hypotension, DIC

Meningococcemia = N. meningiditis sepsis

Arachnodactyly, lens disclocation, aortic dissection, hyperflexible joints

Fibrillin defect

Back pain, fever, night sweats, weight loss

Vertebral TB

Big toe extension/fanning upon plantar scrape

Upper motor neuron lesion = hyperreflexia

Bilateral hilar adenopathy, uveitis

Noncaseating granulomas, "hot potato" lung

Blue sclera

Type 1 collagen defect

Bluish line on gingiva

Lead poisoning

Bone pain, bone enlargement, arthritis

Bone pain, increased hat size, fractures

Increased serum alkaline phosphatase

Increased bone turnover (osteoblast and osteoclast actvity)

MUSCULAR DYSTROPHY

(especially Duchenne's)

Chest pain, pericardial effusion/friction rub, persistent fever a couple of weeks after MI

*Autoimmune-mediated post-MI fibrous pericarditis

Child uses arms to stand up from squat

Indicative of Duchenne's muscular dystrophy

Child with fever develops red rash on face that spreads to body.

Erythema infectiosum/fifth disease/parvovirus B19

Five Cs: CAG trinucleotide repeat, chorea, crazy (dementia), caudate degeneration, decreased ACh

Autosomal dominant with anticipation

Chronic exercise intolerance with myalgia, fatigue, painful cramps

Muscle phosphorylase deficiency

Conjugate lateral gaze palsy, horizontal diplopia, intact convergence

Paralysis of adducting eye, nystagmus of abducting aye

damage to MLF; bilateral--MS, unilateral in elderly--stroke

Continuous "machinery" heart murmur

Keep open with misoprostol

Close with indomethacin

MYXEDEMA

(HYPOTHYROIDISM, GRAVES' DISEASE)

Dark purple skin/mouth nodules

Usually in AIDS patients

Associated with HHV-8

KUSSMAUL BREATHING

(DKA)

PELLAGRA

(NIACIN/VITAMIN B3 DEFICIENCY)

Polyneuropathy

Thiamine (vitamin B1) deficiency

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

May progress to esophageal squamous cell carcinoma.

Elastic skin, hypermobility of joints

Type 3 collagen defect

Enlarged, hard left supraclavicular node

Abdominal metastasis, typically stomach cancer

Indicates poor prognosis

Cutaneous T-cell lymphoma or mycosis fungoides

Facial muscle spasm upon tapping

Hypocalcemia

Blood pressure cuff tightening causes spasm of muscles of hand and forearm

Hypocalcemia

Fat, female, forty, fertile

Bile duct blockage

Fever, cough, conjunctivitis, coryza, diffuse rash

Morbillivirus

Fever, night sweats, weight loss

Lymphoma, TB

Fibrous plaques on soft tissue of dorsum of penis

Connective tissue disorder

Gout, mental retardation, self-mutliating behavior in a boy

HGPRT deficiency

Green-yellow rings around peripheral cornea

Copper accumulation in Wilson's disease

Genetic benign polyposis that can cause bowel obstruction

Increased cancer risk

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Glucocerebrosidase deficiency

Hereditary nephritis, sensorineural hearing loss, cataracts

"Can't see, can't pee, can't hear"

Collagen mutation

Hypercoagulatiblity leading to migrating DVTs and vasculitis

Adenocarcinoma of the pancreas or lung

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Bilateral amygdala lesion

Hypertension, hypokalemia, metabolic acidoss

Primary hyperaldosteronism

Hypoxemia, polycythemia, hypercapnia

Chronic bronchitis: hyperplasia of mucous cells (Reid syndrome)

Painless, indurated, ulcerated genital lesion

Primary syphilis: Treponema pallidum

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

Genetic sphingomyelinase deficiency

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Debranching enzyme deficiency --> glycogen stored in liver cannot be broken down to be used as fuel

Hypoglycemia, hepatomegaly, nephromegaly, lactic acidosis, hyperlipidemia

Glucose-6-phosphatase deficiency

Infant with microcephaly, rocker-bottom feet, and structural heart defect

Trisomy 18

Jaundice, right upper quadrant pain, fever

Ascending cholanitis

Large rash with bull's eye appearance

Lyme disease: Borrelia

Male child, recurrent infections, B-cell deficiency, BTK tyrosine kinase mutation

X-linked agammaglobulinemia

Mucosal bleedin and prolonged bleeding time

Defect in platelet aggregation

GpIIb/IIIa deficiency

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

Genetic disorder, predisposes to colon cancer

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

Hemoptysis and glomerular disease

Neonate with arm paralysis following difficult birth

Superior trunk (C5-6) brachial plexus injury: waiter's tip

No lactation postpartum, absent menstruation, cold intolerance

Pituitary infarction following postpartum hemorrhage --> severe hypotension --> compromised pituitary perfusion

Nystagmus, intention tremor, scanning speech

Multiple sclerosis

Oscillating slow/fast breathing

Central apnea in CHF or increased intracranial pressure

Painful, pale, cold fingers/toes

Vasospasm in extremities

Painful, raised red lesions on palms and soles

Infective endocarditis

Pink complexion, dyspnea, hyperventilation

Emphysema: centroacinar (smoking) or panacinar (ATT-1 deficiency)

Polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature in a young girl

Mosaic G-protein signaling mutation

Polyuria, acidosis, growth failure, electrolyte imbalances

Proximal tubular reabsorption defect

Ptosis, miosis, anhirosis

Most common cause is Pancoast tumor

Pupil accomodates but doesn't react

Neurosyphilis

GUILLAIN-BARRE SYNDROME

(autoimmune acute inflammatory demyelinating polyneuropathy)

Rapidly progressive leg weakness that ascends, no sensory loss

Typically follows GI/upper respiratory infection

JOB'S SYNDROME

(Hyper IgE syndrome)

Recurrent colds, unusual eczema, high serum IgE

Neutrophil chemotaxis abnormality

Red, itchy, swollen rash of nipple/aerola

Represents underlying neoplasm

Red urine in the morning

Hb breakdown due to hemolysis by complement b/c of lack of CD55 or CD59

Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma

Dominant tumor suppresor gene mutation

Resting tremor, pill-rolling tremor, rigidity, akinesia, postural instability

Nigostriatal dopamine depletion

Retinal hemorrhages with pale centers

Bacterial endocarditis

Severe jaundice in neonate

Congenital unconjugated hyperbilirubinemia

Severe RLQ pain with rebound tenderness

Indicative of appendicitis

Short stature, increased incidence of tumors/leukemia, aplastic anemia

Genetically inherited; often progresses to AML

Single palm crease

Down's syndrome

Situs inversus, chronic sinusitis, bronchiectasis, infertility (decreased sperm motility and decreased motility along Fallopian tube)

Dynein defect affecting cilia

Skin hyperpigmentation

Primary adrenocortical insufficiency of autoimmune or infectious origin

Slow, progressive muscle weakness in boys

X-linked, defective dystrophin, less severe than Duchenne's

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

Measles

Small, nontender, erythematous lesions on palms/soles

Infective endocarditis

Smooth, flat, moist white lesions on genitals

Secondary syphilis

Streak ovaries, congenital heart disease (coarctation of the aorta), horseshoe kidney

XO, short stature, webbed neck, lymphedema

Swollen gums, mucous bleeding, poor wound healing, spots on skin

Vitamin C deficiency: can't hydroxylate proline/lysine for colalgen synthesis

Swollen, hard, painful finger joints

Osteophytes on PIP [Buchard's nodes], DIP [Heberden's nodes]

Osteophytes on PIP

Osteoarthritis

Osteophytes on DIP joints

Osteoarthritis

Painful, ulcerated genital lesion with exudate

Haemophilus ducreyi

Unilateral facial drooping

Lower motor neuron CN VII palsy

Urethritis, conjunctivitis, arthritis in a male

"Can't pee, can't see, can't climb a tree"

Reactive arthritis associated with B27

Vascular birthmark (port-wine stain)

Bening, but associated with Sturge-Weber syndrome

Vomiting blood following esophagogastric lacerations

Occurs in alcoholics and patients with eating disorders

Weight loss, diarrhea, arthritis, fever, adenopathy

Tropheryma whippelii

"Worst headache of my life"

Subarachnoid hemorrhage

Associated with adult polycystic kidney disease

Auer rods

Acute myelogenous leukemia: especially the promyelocytic type

Howell-Jolly bodies

Due to splenectomy or nunfunctional spleen

Seen in: sickle cell disease, trauma, ITP post-seplenectomy

Tetralogy of Fallot

Right ventricular hypertrophy

Pancoast's tumor

Can cause Horner's syndrome by compressing the sympathetic ganglion

Hemorrhage (hemosiderin) causes brown color of osteolytic cysts. Due to:

Hyperparathyroidism

Osteitis fibrosa cystica (von Recklinghausen's disease of bone)

Circular grouping of dark tumor cells surrounding pale neurofibrils

Seen in neuroblastoma, medulloblastoma, Ewing sarcoma

Tertiary syphilis

Gait ataxia and positive Romberg sign

Degeneration of dorsal column nerves

Desquamated epithelium casts in sputum

Bronchial asthma; can result in whorled mucous plugs

Disarrayed granulosa cells in eosinophilic fluid

Granulosa-theca cell tumor of the ovary

Perinuclear cytoplasmic clearing

Dysplastic squamous cervical cells with nuclear enlargement and hyperchromasia

HPV: predisposes to cervical cancer

Enlarged cells with intranuclear inclusion bodies

Cowdry type A appearance

Eosinophilic cytopslamic inclusion in liver cell

Globules near nucleus

Alcoholic liver disease

'ORPHAN ANNIE' EYE NUCLEI

(PAPILLARY CARCIONOMA OF THE THYROID)

Eosinophilic globule in liver

Seen in viral hepatitis often caused by yellow fever

RABIES VIRUS

(LYSSAVIRUS)

Eosinophilic inclusion bodies in cytoplasm of hippocampal nerve cells

Negri bodies

REED-STERNBERG CELLS

(HODGKIN'S LYMPHOMA)

SCHILLER-DUVAL BODIES

(YOLK SAC TUMOR)

'Hair-on-end' (crew cut) appearance on x-ray

Sign of marrow expansion

ASCHOFF BODIES

(RHEUMATIC FEVER)

Heart nodules (inflammatory)

Focal myocardial inflammation with multinucleated giant cells

INFECTIOUS MONONUCLEOSIS

(EBV)

Heterophile antibodies

IgM antibodies produced by infected B cells

BRONCHIAL ASTHMA

(CHARCOT-LEYDEN CRYSTALS: EOSINOPHILIC GRANULES)

MEGALOBLASTIC ANEMIA

(B12, FOLATE DEFICIENCY)

COWDRY TYPE A BODIES

(HSV OR CMV)

FERRUGINOUS BODIES

(Asbesosis: increased chance of mesothelioma and bronchogenic carcinoma)

CHEDIAK-HIGASHI DISEASE

(failure of phagolysosome formation)

WILSON'S DISEASE

(hepatolenticular degeneration)

1. MULTIPLE MYELOMA

2. MONOCLONAL GAMMOPATHY OF UNDETERMINED SIGNIFICANCE

3. WALDENSTROM'S MACROGLOBULINEMIA

BENCE JONES PROTEINS

(Multiple myeloma [kappa or lambda Ig liht chains in urine])

Waldenstrom's macroglobulinemia

SIGNET RING

(Gastric adenocarcinoma)

"STRING SIGN"

(Crohn's disease)

GOUT

(hyperuricemia)

KIMELSTIEL-WILSON NODULES

(Diabetic nephropathy)

EWING SARCOMA

(Malignant round-cell tumor)

CODMAN'S TRIANGLE ON X-RAY

(Osteosarcoma, Ewing sarcoma, pyogenic osteomyelitis)

MINIMAL CHANGE DISEASE

(child with nephrotic syndrome)

EBURNATION

(severe osteoarthritis resulting in bony sclerosis)

NEUROFIBRILLARY TANGLES

(Alzheimer's disease and Creutzfeldt-Jakob disease)

REINKE CRYSTALS

(Leydig cell tumor)

PSEUDOGOUT

(calcium pyrophosphate dihydrate)

C-myc activation

EBV association

MEMBRANOUS GLOMERULONEPHRITIS

(may progress to nephrotic syndrome)

ROULEAUX FORMATION

(multiple myeloma)

LINES OF ZAHN

(arterial thrombus, layers of platelets/RBCs)

EPIGLOTTITIS

(Haemophilus influenzae type B)

CLL

(almost always B cell; affects the elderly)

XANTHOCHROMIA

(subarachnoid hemorrhage)