Classic Presention + Diagnosis/Disease Flashcards
Achilles Tendon Xanthoma
Familial Hypercholesterolemia (Low LDL Receptor Signaling)
Abdominal Pain + Ascities + Hepatomegaly
Budd-Chiari Syndrome (Post-Hepatic Venous Thrombosis)
Adrenal Hemorrhage + Hypotension + DIC
Waterhouse-Friderichsen Syndrome (Meningococcemia)
Anterior Drawer Sign (Positive)
ACL Injury
Arachnodactyly + Lens Dislocation + Aortic Dissection + Hyper-flexible Joints
Marfan Syndrome (Fibrillin Defect)
Athlete with Polycythemia
Secondary to Erythropoietin Injection
Back Pain + Fever + Night Sweats + Weight Loss
Potts Disease (Vertebral TB)
Bilateral Hilar Adenopathy + Uveitis
Sarcoidosis (Noncaseating Granulomas)
Blue Sclera
Osteogenesis imperfecta (Type 1 Collagen)
Bluish Line on Gingiva
Burton Line (Lead Poisoning)
Bone Pain + Bone enlargement + Arthritis
Paget Disease of bone (increased osteoblastic and osteoclastic activity)
Bounding pulses + diastolic heart murmur + head bobbing
Aortic Regurgitation
Butterfly facial rash + Raynaud Phenomenon in a young female
SLE (Lupus)
Cae-au-lait spots + Lisch nodules (iris hamartoma)
Neurofibromatosis Type 1 (and pheochromocytoma/optic gliomas)
Cafe-au-lait spots + polyostotic fibrous dysplasia + precocious puberty + multiple endocrine abnormalities
McCune-Albright Syndrome (Mosaic G-Protein Signaling mutation)
Calf Pseudohypertrophy
Muscular Dystrophy (Must Likely Duchenne’s) –> X-Linked Recessive (deletion of the dystrophin gene)
“Cherry-Red” Spots on the macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation) (Lysosomal storage disease)
Chest pain on exertion
Angina (stable with moderate exertion vs. unstable with minimum exertion)
Chest Pain + Pericardial Effusion + Friction Rub + Persistent Fever –> All Post MI
Dressler Syndrome (Autoimmune-mediated Post MI fibrinous pericarditis 1-12 weeks after the acute MI)
Child uses arms to stand up from a squat
Gowers Sign - Duchenne Muscular Dystrophy
Child with fever later develops a facial rash that spreads to the body
Slapped Check Rash - Parovirus B19 (Fifths Disease)
Chorea + Demential + Caudate Degeneration
Huntington’s Disease (Autosomal Dominant CAG Expansion)
Chronic Exercise Intolerance with myalgia + fatigue + painful cramps
McArdle Disease - Muscle glycogen phosphorylase deficiency
Cold Intolerance
Hypothroidism
Conjugate Lateral Gaze Palsy + Horizontal Diplopia
Internuclear opthalmoplegia (damage to the MLF –> Bilateral = MS vs. Unilateral = Stroke)
Continuous “Machine Like” Heart Murmurs
PDA - Patent Ductous Arteriousus - Close with indomethacin
Cutaneous/Dermal Edema due to connective tissue depostion
Myxedema –> Caused by hypothyroidsm + Graves’ disease
Dark Purple Skin/Mouth Nodules in AIDS Patients
Kaposi Sarcoma –> Associated with HHV-8
Deep, Labored breathing/hyperventilation
Kussmaul Respirations (diabetic ketoacidosis)
Dermatitis, dementia, diahrrea
Pellagra (Niacin/B2 deficiency)
Dilated Cardiomyopathy + Edema + Alcoholism or Malnutrion
Wet beriberi (Thiamine/B1 deficiency)
Dog or cate bite resulting in infection
Pasteurella multicida (cellulitis at the inoculation site)
Dry eyes + Dry Mouth + Arthritis
Sjogren Syndrome (Autonomic destruction of exocrine glands)
Dysphagia + Glossitis + Iron Deficiency + Anemia
Plummer-Vinson syndrome - may progress to esophageal squamous cell carcinoma
Elastic Skin + Hyper-mobility of joints
Ehlers-Danlos syndrome - Type III Collagen Defect
Enlarge + Hard Left Supraclavicular Node
Virchow Node (Abdominal Metastasis)
Erythroderma + Lymphadenopathy + Hepatosplenomegaly + Atypical T-Cells
Mycosis fungoides (cutaneous T-Cell Lymphoma)
Facial Muscle Spasm upon tapping
Chovstek Sign (Hypocalcemia)
Fat + Female + Forty + Febrile
Cholelithiasis (gallstones)
Fever + Chills + Headache + Myalgia following antibiotics for syphilis
Jarisch-Herxheimer Reaction –> Rapid Lysis of spirochetes results in toxin release
Fever + Cough + Conjunctivitis + Coryza + Diffuse Rash
Measles
Fever + Night Sweats + Weight Loss
B Symptoms (staging) of Lymphoma
Fibrous plaques in the soft tissue of the penis
Peyronie Disease (connective tissue disorder)
Gout + Intellectual Disability + Self Mutilating Behavior in a male
Lesch-Neyan Syndrome - HGPRT Deficiency + X Linked Recessive
Green-Yellow Rings around the Cornea
Kayser-Fleischer Rings –> Copper Accumulation from Wilson’s Disease
Hamartomatous GI Polyps + Hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction)
Hepatosplenomegaly + Osteoporosis + Neurologic Symptoms
Gaucher Disease - Lysosomal Storage Disease (Glucocerebrosidase Deficiency)
Hereditary Nephritis + Sensorineural hearing loss + cataracts
Alport syndrome (mutation in collagen IV)
Hyperphagia + Hypersexuality + Hyperorality + Hyperdocility
Kluver-Bucy Syndrome - Bilateral Amydala lesion
Hyperreflexia + Hypertonia + Babinski sign present
UMN Damage
Hypereflexia + Hypotonia + Atrophy + Fasciculation
LMN Damage
Hypoxemia + Polycythemia + Hypercapnia
Blue bloater - Chronic bronchitis + hyperplasia of mucous cells
Indurated + Ulcerated Genital Lesions
Non-painful –> Primary Syphilis + Treponema pallidum
Painful with exudate –> Haemophilus ducreyi
Infant with cleft lip/palate + Microcephaly/Holoprosencephaly + Polydactyly + Cutis Aplasia
Patau Syndrome –> Trisomy 13
Infant with failure to thrive + hepatosplenomegaly + neurodegeneration
Niemann-Pick Disease –> Genetic Spingomyelinase Deficiency - Lysosomal Storage Disease