Classic Presentation Flashcards
Achilles tendon xanthoma
Familial hypercholesterolemia
Decreases LDL signaling
Abdominal pain
Ascites
Hepatomegaly
Budd-Chiari syndrome
Posthepatic venous thrombosis
Adrenal hemorrhage
Hypotension
DIC
Waterhouse-Friedrichsen syndrome (meningococcemia)
Arachnodactyly Lens dislocation Aortic dissection Hyperflexible joints Fibrillin defect
Marfan’s syndrome
Athlete with polycythemia
EPO INJECTION
Back pain
Fever
Nightsweats
Weight loss
Pott’s disease
Vertebral tuberculosis
Bilateral hilar lymphadenopathy
Uveitis
Sarcoidosis
Noncaseating granulomas
Blue sclera
Osteogenesis imperfecta
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain
Bone enlargement
Arthritis
Paget’s disease of bone
Increased osteoblastic and osteoclastic activity
Bounding pulses
Diatolic heart murmur
Head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
SLE
Cafe au lait spots Lisch nodules (iris hamartoma)
Neurofibrimatosis I ( + pheochromocytoma, optic gliomas)
Neurofibromatosis II (+ bilateral acoustic neuromas)
Cafe au lait spots
Polyostotic fibrous dysplasia
Precocious puberty
McCune-Albright syndrome
Mosaic G-protein signaling mutation
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne's) X-linked RECESSIVE deletion of DYSTROPHIN gene
“Cherry red spot” on macula
Tay-Sachs (ganglioside accumulation)
Or
Niemann-Pick (sphingomyelin accumulation)
Central Retinal Artery Occlusion
Chest pain on exertion
Angina
Stable: moderate exertion; unstable: minimal exertion
Chest pain
Pericardial effusion/friction rub
Persistent fever following MI
Dressler’s syndrome
(Autoimmune-mediated post MI fibronous pericarditis,
1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gower’s sign
DMD
Child with fever develops red rash on face that spreads to body
“Slapped cheeks”
Erythema infectiosum/5th disease
Parvovirus B-19
Chorea
Dementia
Caudate degeneration
Huntington’s disease
Autosomal dominant CAG repeat expansion
Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
Myoglobinuria
McArdle’s disease
Muscle glycogen phosphorylase deficiency
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy
Horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral (MS), unilateral (stroke)
Continuous “machinery” heart murmur
PDA
(Close with indomethacin;
Open with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease (periorbital) )
Dark purple skin/mouth nodules
Kaposi’s sarcoma (usually AIDS patients (gay men): associated with HHV-8
Deep, labored breathing
Hyperventilation
Kussmaul breathing
DKA
Dermatitis
Dementia
Diarrhea
Pellagra (niacin Vitamin B3 def)
Dilated cardiomyopathy
Edema
Polyneuropathy
Wet beriberi (thiamine B1 deficiency)
Dog or cat bite resuling in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes
Dry mouth
Arthritis
Sjogren’s syndrome
Autoimmune destruction of exocrine glands
Dysphagia (esophageal webs)
Glossitis
Iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints
Ehlers-Dahnlos syndrome (Type III COLLAGEN DEFECT)
Enlarged, hard LEFT supraclavicular node
Virchow’s node (abdominal metastasis)
Facial muscle spasm upon tapping
Chvostek’s sign
Hypocalcemia
Fat
Female
Forty
Fertile
Acute cholelithiasis
Bile duct blockage
Fever
Chills
Headache
Myalgia following ATB treament for SYPHILIS
Jarisch-Herxheimer reaction
Rapid lysis of spirochetes results in toxin release
Fever Cough Conjunctivitis Coryza Diffuse rash
Measles (morbillivirus)
Fever
Night sweats
Weight loss
B symptoms (Lymphoma)
Fibrous plaques in soft tissue of penis
Peyronie’s disease
Connective tissue disorder
Gout
Mental retardation
Self-mutilating behaviour in boy
Lesch-Nyhan syndrome (HGPRT deficiency, X linked recessive)
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson’s disease)
Hamartomatous GI Polyps
Hyperpigmentation of mouth feet and hands
Peutz-Jeghers syndrome
Genetic benign polyposis can cause bowel obstruction; increased cancer risk
Hepatosplenomegaly
Osteoporosis
Neurologic symptoms
Gaucher’s disease
Glucocerebroside def
Hereditary nephritis
Sensorineural hearing loss
Cataracts
Alport syndrome
Mutation in ALPHA CHAIN OF COLLAGEN IV
Hypercoagulability
Leading to migrating DVTs and vasculitis
Trousseau’s sign
(Adenocarcinoma of pancreas or lung)
Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia
Hypertonia
Positive Babinski sign
UMN LESION
HPN
Hypokalemia
Metabolic alkalosis
Conn’s syndrome
Hyporeflexia
Hypotonia
Atrophy
LMN LESION
Hypoxemia
Polycythemia
Hypercapnia
“Blue bloater”
Chronic bronchitis: hyperplasia of mucous cells
Indurated, ulcerated genital lesion
Nonpainful: chancre (1 syphilis, Treponema pallidum)
Painful, with exudate: chancroid (H. Ducreyi)
Infant with FTT
Hepatosplenomegaly
Neurodegeneration
Niemann-Pick disease
Genetic sphingomyelinase deficiency
Infant with hypoglycemia
FTT
HEPATOMEGALY
Cori’s disease
Debranching enzyme def
Keratin pearls on skin biopsy
Squamous cell CA
