Rapid Review Flashcards
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin mutation)
Thyroid and parathyroid tumors, pheoc
MEN 2A (RET mut)
Pupil accommodates but doesn’t react
Neurosyphilis (Argyll Robertson pupil)
Bluish line on gingiva
Burton line (lead poisoning)
Cutaneous flushing, diarrhea, bronchospasm, right-sided valvular lesions
Carcinoid syndrome
Chest pain on exertion
Angina
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Elastic skin, hypermobile joints, incr bleeding tendency
Ehlers-Danlos (type V collagen defect)
Cafe au lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytomas, optic gliomas
NF1
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
Palpable purpura on butt/legs, joint pain, abdominal pain, hematuria
Henoch-Schonlein purpura (IgA vasculitis)
Mucosal bleeding and prolonged bleeding times
Glanzmann thrombasthemia (lack of GpIIb/IIIa leads to impaired aggregation) Bernard-Soulier (lack of GpIb leads to impaired plt-vWF adhesion) Immune thrombocytopenia (anti-GpIIb/IIIa antibodies) TTP (inhibition of defic of ADAMTS13)
Rapidly progressive limb weakness that ascends following GI/URI infection
Guillian-Barre
Intestinal obstruction at rectosigmoid junction in infant
Hirschprung (Down)
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctiva and tongue, hand-foot changes
Kawasaki
Dark purple skin/mouth nodules in AIDS patient
Kaposi sarcoma (HHV-8)
Enlarged hard left supraclavicular node
Virchow node (abdominal metastasis)
Pancreatic (ZE syndrome, insulinoma, VIPoma), pituitary, parathyroid tumors
MEN I
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) that can present with Sezary syndrome (T cells in blood) and Pautrier microabscesses
Swollen, hard, painful finger joints
Osteoarthritis (Osteophytes:Bouchard nodes on PIP, Heberden on DIP)
Dilated cardiomyopathy, edema, alcoholism, or malnutrition
Wet beriberi (B1 deficiency)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle dz (skeletal muscle glycogen phosphorylase deficiency)
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast
Red “currant jelly” sputum
Klebsiella pneumonia
Calf pseudohypertrophy
Muscular dystrophy
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha 1,4-glucosidase defic)
Bilateral hilar adenopathy, uveitis
Sarcoidosis
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme defic) or Von Gierke (Gluc-6-phosphatase defic)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome
Continuous machine-like heart murmur
PDA
Painful raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Facial muscle spasm upon tapping
Chvostek sign of hypocalcemia
Short stature, cafe au lait spots, thumb/radial defects, incr incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (loss of DNA crosslink repair)
Urethritis, conjunctivitis, arthritis in male
Reactive arthritis assoc with HLA-B27
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Anaphylaxis after blood transfusion
IgA deficiency
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (dysfunction of proximal convoluted tubule)
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
Retinal hemorrhages with pale centers
Roth spots
Deep labored breathing/hyperventilation
Kussmaul respirations of DKA
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis
Vascular birthmark (port-wine stain)
Nevus flammeus assoc with Sturge-Weber
Painful finger/toes changing color from white to blue to red with cold or stress
Raynaud phenomenon
Infant with cleft lip/palate, microcephaly/holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
Pink complexion, dyspnea, hyperventilation
Emphysema (centriacinar from smoking, panacinar from A1AT deficiency)
Kyphoscoliosis, foot abnormalities (pes cavus=high arch), hypertrophic cardiomyopathy, gait ataxia, loss of position and vibration sense
Friedreich ataxia (frataxin mutation)
Back pain, fever, night sweats
Pott Disease
Bilateral acoustic schwannomas
NF2
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth dz (Parvo B19)
Large rash with bull’s-eye
Erythema chronicum migrans from Ixodes bite