Male child, recurrent

infections, no mature B cells.

Bruton disease (X-linked

agammaglobulinemia)

Conjugate lateral gaze palsy,

horizontal diplopia.

Internuclear ophthalmoplegia
(damage to MLF; bilateral
[multiple sclerosis],
unilateral [stroke])
Nephrotic syndrome

Periorbital and/or peripheral

edema, proteinuria,
hypoalbuminemia,
hypercholesterolemia.
Bluish line on gingiva.
Green-yellow rings around
peripheral cornea.
Pruritic, purple, polygonal
planar papules and plaques

No lactation postpartum,
absent menstruation, cold
intolerance.
Jaundice, palpable distended
non-tender gallbladder.
Cafe-au-lait spots, Lisch
nodules (iris hamartoma).
Vascular birthmark (port-wine
stain).
Adrenal hemorrhage,
hypotension, DIC.
Severe RLQ pain with
palpation of LLQ.
Red currant jelly stools.
(adults)
Skin hyperpigmentation,
hypotension, fatigue.
Worst headache of my life.
Hyperphagia, hypersexuality,
hyperorality, hyperdocility.
Recurrent colds, unusual
eczema, high serum IgE.

Burton line (lead poisoning)

Kayser-Fleischer rings
(copper accumulation from
Wilson disease)
Lichen planus

6 Ps Sawtooth infiltrate of
lymphocytes at dermalepidermal junction.
Associated with hepatitis
C.

Sheehan syndrome (pituitary

infarction)
Courvoisier sign (distal
obstruction of biliary tree)
Neurofibromatosis type I (+
pheochromocytoma, optic
gliomas)
Hemangioma (benign, but
associated with SturgeWeber syndrome)
Waterhouse-Friderichsen
syndrome
(meningococcemia)
Rovsing sign (acute
appendicitis)
Acute mesenteric ischemia
(adults)
Addison disease (1
adrenocortical insufficiency)
Subarachnoid hemorrhage
Kluver-Bucy syndrome
(bilateral amygdala lesion)
Hyper-IgE syndrome (Job
syndrome: neutrophil
chemotaxis abnormality)

Seen in pancreatic
adenocarcinoma

causes inc ACTH and

inc ?-MSH production

Deficiency of Th17 cells

due to STAT3 mutation
impaired recruitment of
neutrophils to sites of
infection.

Dog or cat bite resulting in

infection.
Hepatosplenomegaly,
osteoporosis, neurologic
symptoms.
Single palmar crease.
Chronic exercise intolerance
with myalgia, fatigue, painful
cramps, myoglobinuria.
Abdominal pain, ascites,
hepatomegaly.
Child with fever later develops
red rash on face that spreads
to body.
Pink complexion, dyspnea,
hyperventilation.

Toe extension/fanning upon

plantar scrape.
Lucid interval after traumatic
brain injury.
Fever, night sweats, weight
loss.
Butterfly facial rash and
Raynaud phenomenon in a
young female.
Mucosal bleeding and
prolonged bleeding time.

Vomiting blood following

gastroesophageal lacerations.

Child uses arms to stand up

from squat.
Splinter hemorrhages in
fingernails.
Hypoxemia, polycythemia,
hypercapnia.
Neonate with arm paralysis
following difficult birth.

Pasteurella multocida
(cellulitis at inoculation site)
Gaucher disease
(glucocerebrosidase
deficiency)
Down syndrome
McArdle disease (muscle
glycogen phosphorylase
deficiency)
Budd-Chiari syndrome
(posthepatic venous
thrombosis)
Slapped cheeks (erythema
infectiosum
Pink puffer (emphysema:
centriacinar [smoking],
panacinar [?1-antitrypsin
deficiency])
Babinski sign (UMN lesion)
Epidural hematoma (middle
meningeal artery rupture)
B symptoms (staging) of
lymphoma
Systemic lupus
erythematosus
Glanzmann thrombasthenia
(defect in platelet
aggregation due to lack of
GpIIb
Mallory-Weiss syndrome
(alcoholic and bulimic
patients)
Gowers sign (Duchenne
muscular dystrophy)
Bacterial endocarditis
Blue bloater (chronic
bronchitis: hyperplasia of
mucous cells)
Erb-Duchenne palsy
(superior trunk [C5-C6]
brachial plexus injury:
waiters tip)

Often presents with

hematemesis. Associated
with pain (vs. esophageal
varices).

Dilated cardiomyopathy,
edema, alcoholism or
malnutrition.
Hyperreflexia, hypertonia,
Babinski sign present.
Athlete with polycythemia.
Pancreatic, pituitary,
parathyroid tumors.
Painful, raised red lesions on
pad of fingers/toes.
Infant with failure to thrive,
hepatosplenomegaly, and
neurodegeneration.
Slow, progressive muscle
weakness in boys.
Short stature, inc incidence of
tumors/leukemia, aplastic
anemia.

Wet beriberi (thiamine

[vitamin B1] deficiency)
UMN damage
2 to erythropoietin injection
MEN 1 (autosomal dominant)
Osler nodes (infective
endocarditis, immune
complex deposition)
Niemann-Pick disease
(genetic sphingomyelinase
deficiency)
Becker muscular dystrophy
(X-linked missense mutation
in dystrophin)
Fanconi anemia (genetic loss
of DNA crosslink repair)

Fibrous plaques in soft tissue

of penis.
Cervical lymphadenopathy,
desquamating rash, coronary
aneurysms, red conjunctivae
and tongue
Anaphylaxis following blood
transfusion
Dry eyes, dry mouth, arthritis.

Peyronie disease (connective

tissue disorder)
Kawasaki disease (treat with
IVIG and aspirin)

Clinical Presentation

Diagnosis/Disease

Chorioretinitis, hydrocephalus,
intracranial calcifications

Congenital toxoplasmosis

Bone pain, bone enlargement,

arthritis.

Paget disease of bone (inc

osteoblastic and osteoclastic
activity)
Raynaud phenomenon
(vasospasm in extremities)

Painful, pale, cold fingers/toes.

less severe than

Duchenne Muscular
dustrophy
often progresses to AML

IgA deficiency
Sjogren syndrome
(autoimmune destruction of
exocrine glands

Cherry-red spots on macula

(ganglioside accumulation)

Tay-Sachs (ganglioside
accumulation)

Bounding pulses, diastolic

heart murmur, head bobbing.

Aortic regurgitation

Extra info

Fever, cervical
lymphadenitis,
conjunctival injection,
changes in lips/oral
mucosa (strawberry
tongue D), hand-foot
erythema, desquamating
rash.

Strawberry tongue. (vasculitis)

Kawasaki disease

Large rash with bulls-eye

appearance.

Erythema chronicum migrans

from Ixodes tick bite (Lyme
disease: Borrelia)

Fever, chills, headache,

myalgia following antibiotic
treatment for syphilis.

Jarisch-Herxheimer reaction
(rapid lysis of spirochetes
results in toxin release)

Rash on palms and soles.

(virus)

Coxsackie A (hand, foot, and

mouth disease)

Picornaaseptic
meningitis; herpangina
(mouth blisters, fever);
myocarditis; pericarditis

Painful blue fingers/toes,

hemolytic anemia.

Cold agglutinin disease

(IgM )

autoimmune hemolytic
anemia caused by
Mycoplasma
pneumoniae, infectious
mononucleosis)

Telangiectasias, recurrent
epistaxis, skin discoloration,
arteriovenous malformations,
GI bleeding, hematuria
Enlarged, hard left
supraclavicular node.
Red currant jelly sputum in
alcoholic or diabetic patients.
Infant with hypoglycemia,
failure to thrive, and
hepatomegaly. (debranching
enzyme deficiency)
Situs inversus, chronic
sinusitis, bronchiectasis,
infertility.
Painless erythematous lesions
on palms and soles.
Anterior drawer sign (+).

Osler-Weber-Rendu syndrome

Red urine in the morning,

fragile RBCs.
Cherry-red spots on macula.

Virchow node (abdominal

metastasis)
Klebsiella pneumoniae
Cori disease

Kartagener syndrome
(dynein arm defect affecting
cilia)
Janeway lesions (infective
endocarditis, septic emboli
Anterior cruciate ligament
injury
Paroxysmal nocturnal
hemoglobinuria
central retinal artery

(vasculitis)
Unilateral facial drooping
involving forehead.

occlusion
Bells Palsy facial nerve (LMN
CN VII palsy)

Bilateral hilar adenopathy,

uveitis.
Cafe-au-lait spots, polyostotic
fibrous dysplasia, precocious
puberty, multiple endocrine
abnormalities.
Weight loss, diarrhea,
arthritis, fever, adenopathy.
Infant with cleft lip/palate,
microcephaly or
holoprosencephaly,
polydactyly, cutis aplasia.
Calf pseudohypertrophy.

Sarcoidosis (noncaseating
granulomas)
McCune-Albright syndrome
(mosaic G-protein signaling
mutation)

Cutaneous/dermal edema due

to connective tissue
deposition.
Deep, labored
breathing/hyperventilation.
Nystagmus, intention tremor,
scanning speech, bilateral
internuclear ophthalmoplegia.
Severe RLQ pain with rebound
tenderness.
Elastic skin, hypermobility of
joints.
Swollen, hard, painful finger
joints.
Episodic vertigo, tinnitus,
hearing loss
Small, irregular red spots on
buccal/lingual mucosa with
blue-white center.

Sudden swollen/painful big toe

Complete destruction of
the facial nucleus itself or
its branchial efferent
fibers (facial nerve
proper).

Whipple disease (Tropheryma

whipplei)
Patau syndrome (trisomy 13)

Muscular dystrophy (most

commonly Duchenne): Xlinked recessive deletion of
dystrophin gene
Myxedema

caused by
hypothyroidism, Graves
disease [pretibial])

Kussmaul respirations
(diabetic ketoacidosis)
Multiple sclerosis

McBurney sign (acute

appendicitis)
Ehlers-Danlos syndrome
(type III collagen defect)
Osteoarthritis (osteophytes
on PIP [Bouchard nodes], DIP
[Heberden nodes])
Meniere disease
Koplik spots (measles;
rubeola virus)

Gout

A paramyxovirus;
beginning at head and
moving down; rash is
preceded by cough,
coryza, conjunctivitis,
and blue-white (Koplik)
spots on buccal mucosa
also called podagra

joint, tophi.
Chest pain, pericardial
effusion/friction rub,
persistent fever following MI.
Thyroid and parathyroid
tumors, pheochromocytoma.
Hereditary nephritis,
sensorineural hearing loss,
cataracts.
Hamartomatous GI polyps,
hyperpigmentation of
mouth/feet/hands.
Fever, cough, conjunctivitis,
coryza, diffuse rash.
Muffled heart sounds,
distended neck veins,
hypotension.
Myopathy (infantile
hypertrophic cardiomyopathy),
exercise intolerance.
Chorea, dementia, caudate
degeneration.
Painful Indurated, ulcerated
genital lesion with exudate.
Fat, female, forty, and fertile.
Thyroid tumors,
pheochromocytoma,
ganglioneuromatosis.
Ptosis, miosis, anhidrosis.
Red currant jelly stools.
(infants)
Chest pain on exertion.

Dressler syndrome

autoimmune-mediated
post-MI fibrinous
pericarditis, 1-12 weeks
after acute episode

MEN 2A (autosomal
dominant ret mutation)
Alport syndrome (mutation in
collagen IV)
Peutz-Jeghers syndrome
(inherited, benign polyposis
can cause bowel obstruction;
inc cancer risk, mainly GI)
Measles
Beck triad of cardiac
tamponade
Pompe disease (lysosomal1,4-glucosidase deficiency)
Huntington disease
(autosomal dominant CAG
repeat expansion)
chancroid (Haemophilus
ducreyi)
Cholelithiasis (gallstones)
MEN 2B (autosomal
dominant ret mutation)

may lead to biliary colic

Horner syndrome
(sympathetic chain lesion
intussusception (infants)
Angina

Urethritis, conjunctivitis,
arthritis in a male.

Reactive arthritis associated

with HLA-B27 (Reiter
syndrome)

Back pain, fever, night sweats,

weight loss.
Strawberry tongue. (tampons)
Dark purple skin/mouth
nodules in a patient with AIDS.

Pott disease (vertebral TB)

toxic shock syndrome
Kaposi sarcoma

stable: with moderate

exertion; unstable: with
minimal exertion
Post-GI (Shigella,
Salmonella, Yersinia,
Campylobacter) or
Chlamydia infections.

associated with HHV-8

Retinal hemorrhages with pale

centers.
Chest pain with ST depressions
on EKG (no troponins)
Bilateral acoustic
schwannomas
Cold intolerance.
Arachnodactyly, lens
dislocation, aortic dissection,
hyperflexible joints.
Black eschar on face of patient
with diabetic ketoacidosis
Strawberry tongue (bacitracin
sensitive)
Dysphagia (esophageal webs),
glossitis, iron deficiency
anemia.
Hyporeflexia, hypotonia,
atrophy, fasciculations.
Hepatosplenomegaly,
pancytopenia, osteoporosis,
aseptic necrosis of femur, bone
crises
Polyuria, renal tubular acidosis
type II, growth failure,
electrolyte imbalances,
hypophosphatemic rickets.
Infant with hypoglycemia,
failure to thrive, and
hepatomegaly. (glucose-6phosphatase deficiency, more
severe)
Severe jaundice in neonate.

Painless jaundice.

Smooth, flat, moist, painless

white lesions on genitals.
Red, itchy, swollen rash of
nipple/areola.
Rash on palms and soles.
(obligate intracellular

Roth spots (bacterial

endocarditis)
Unstable angina
Neurofibromatosis type 2
Hypothyroidism
Marfan syndrome (fibrillin
defect)
Mucor or Rhizopus fungal
infection
Scarlet fever (Streptococcus
pyogenes
Plummer-Vinson syndrome

Erythematous,
sandpaper-like rash with
fever and sore throat
may progress to
esophageal squamous
cell carcinoma

LMN damage
Gaucher disease
(glucocerebrosidase
deficiency)
Fanconi syndrome (proximal
tubular reabsorption defect)

Von Gierke disease

Crigler-Najjar syndrome
(congenital unconjugated
hyperbilirubinemia)
Cancer of the pancreatic
head obstructing bile duct
(Secondary biliary cirrhosis)
Condylomata lata (2
syphilis)
Paget disease of the breast
(sign of underlying
neoplasm)
Rocky Mountain spotted
fever (Rickettsia rickettsii)

Fever, lymphadenopathy,
skin rashe on palms and
soles, condylomata lata

Rickettsiae are obligate

intracellular organisms
that need CoA and NAD+

because they cannot

synthesize ATP.

organisms)
Continuous machine-like heart
murmur.
Cherry-red spots on macula.
(sphingomyelin accumulation)
Facial muscle spasm upon
tapping.

PDA (close with

indomethacin; open or
maintain with misoprostol
Niemann-Pick
(sphingomyelin
accumulation),
Chvostek sign
(hypocalcemia)

Erythroderma,
lymphadenopathy,
hepatosplenomegaly, atypical
T cells.

Mycosis fungoides or Sezary

syndrome

Pupil accommodates but

doesnt react.
Nonpainful Indurated,
ulcerated genital lesion.
Rash on palms and soles.
(spirochete)

Argyll Robertson pupil

(neurosyphilis)
chancre (1 syphilis,
Treponema pallidium)
2 syphilis (Treponema
pallidum)

Streak ovaries, congenital

heart disease, horseshoe
kidney, cystic hygroma at
birth, short stature, webbed
neck, lymphedema.
Swollen gums, mucosal
bleeding, poor wound healing,
petechiae.
Gout, intellectual disability,
self-mutilating behavior in a
boy.
Rapidly progressive leg
weakness that ascends
following GI/upper respiratory
infection.
Blue sclera.

Turner syndrome (45,XO)

Dermatitis, dementia,
diarrhea.
Systolic ejection murmur
(crescendo-decrescendo).
Resting tremor, rigidity,

Scurvy (vitamin C deficiency:

cant hydroxylate proline
Lesch-Nyhan syndrome
(HGPRT deficiency, X-linked
recessive)
Guillain-Barre syndrome
(acute autoimmune
inflammatory demyelinating
polyneuropathy)
Osteogenesis imperfecta
(type I collagen defect)
Pellagra (niacin [vitamin B3]
deficiency)
Aortic valve stenosis
Parkinson disease

tapping of the facial

nerve seen in
hypoparathyroidism,
vitamin D def, chronic
renal failure
Mycosis fungoides
(cutaneous T-cell
lymphoma) or Se?zary
syndrome (mycosis
fungoides + malignant T
cells in blood)
tertiary syphillis, Tabes
dorsalis

Fever, lymphadenopathy,
skin rashes, condylomata
lata

akinesia, postural instability.

Oscillating slow/fast breathing.

Cutaneous flushing, diarrhea,

bronchospasm
Multiple colon polyps,
osteomas/soft tissue tumors,
impacted/ supernumerary
teeth.
Renal cell carcinoma
(bilateral),
hemangioblastomas,
angiomatosis,
pheochromocytoma.
Infant with microcephaly,
rocker-bottom feet, clenched
hands, and structural heart
defect.
Achilles tendon xanthoma.

Palpable purpura on
buttocks/legs, joint pain,
abdominal pain (child),
hematuria.
Chest pain with ST depressions
on EKG (with troponins)

(nigrostriatal dopamine
depletion)
Cheyne-Stokes respirations
(central apnea in CHF or inc
intracranial pressure)
Carcinoid syndrome (rightsided cardiac valvular
lesions, 5-HIAA)
Gardner syndrome (subtype
of FAP)

von Hippel-Lindau disease

(dominant tumor suppressor
gene mutation)

Edwards syndrome (trisomy

18)

Familial
hypercholesterolemia (dec
LDL receptor signaling)
Henoch-Schonlein purpura
(IgA vasculitis affecting skin
and kidneys)
Non ST Segment Myocardial
Infarction (NSTEMI