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
Skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (Addison)
Tay-Sachs vs Niemann-Pick
Both: neuro degeneration and Cherry red macular spots. Hepatosplenomegaly only with NM
Bilateral RCC, hemangioblastoma, angiomatosis, pheo
VHL
Periorbital/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
Painless jaundice
Cancer of pancreatic head that obstucts bile duct
Fat, female, forty, and fertile
Cholelithiasis
Nystagmus, intention tremor, scanning speech, bilateral INO
MS
Conjugate horizontal gaze palsy, horizontal diplopia
INO from damage to MLF
Angiokeratomas, peripheral neuropathy, glomerulopathy
Fabry
Streak ovaries, congenital heart dz, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema
Turner
Infant with microcephaly, rocker-bottom feet, clenched hands, structure heart defect
Edwards syndrome (trisomy 18)
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (neutrophil chemotaxis abnormality)
Cafe au lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright (mosaic G-prot signaling mutation)
Ab pain, diarrhea, leukocytosis, recent Abx use
C diff
Dog or cat bite causing infection
Pasteurella multocida
Vomiting blood following GE lacerations
Mallory-Weiss syndrome in alcoholics or bulimics
Unilateral facial drooping involving forehead
LMN facial nerve palsy (UMN lesions spare forehead)
Severe RLQ pain with deep tenderness
McBurney sign of acute appendicitis
Athlete with polycythemia
Erythropoietin injection
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers
Anterior drawer sign
ACL injury
Splinter hemorrhage
Bacterial endocarditis
Slow, progressive muscle weakness in boys
Becker musc dystrophy
Butterfly facial rash and Raynaud in young female
SLE
Hepatosplenomegaly, pancytopenia, aseptic necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (conn tiss dz)
Hypotension, muffled heart sounds, jugular venous distension
Cardiac tamponade (Beck’s triad)
Severe RLQ pain with palpation of LLQ
Rovsing sign of acute appendicitis
Severe jaundice in neonates
Crigler-Najjar
Systolic ejection murmur (cresc-decresc)
Aortic stenosis
Achilles tendon xanthoma
Familial hypercholesterolemia
Smooth, moist, painless, wart-like white lesions on genitals
Condyloma lata (secondary syphilis)
Episodic vertigo, tinnitus, hearing loss
Meniere disease
Fever, chills, headache, myalgia following Abx treatment for syphilis
Jarisch-Herxheimer reaction
Hyperreflexia, hypertonia, positive Babinski sign
UMN damage
Inspissated fecal mass obstructing ileum in infant
Meconium ileus (CF)
Golden brown rings around peripheral cornea
Wilson dz
Dementia, dermatitis, diarrhea
Pellagra (B3 deficiency)
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Black eschar on face of patient with DKA
Mucor or Rhizopus infection
Fever, night sweats, weight loss
B symptoms of lymphoma
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (Type IV collage mutation)
Single palmar crease
Down syndrome
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune anemia [IgM and complement] caused by Mycoplasma pneum, mono, CLL
Cutaneous/dermal edema due to conn tiss deposition
Myxedema (caused by hypothyroidism and Graves)
Posterior drawer sign
PCL injury
Thyroid tumor, ganglioneuromas, pheo, marfanoid habitus
MEN 2B (RET mut)
Dysphagia (esophageal webs), glossitis, iron defic anemia
Plummer-Vinson
Sudden swollen painful big toe joint/tophi
Gout/podagra
Inability to flex MCP and extend DIP and PIP joints
Klumpke palsy “claw hand” (inferior trunk [C8-T1] brachial plexus injury)
Strawberry tongue
Scarlet fever
Kawasaki
Red currant jelly stools
Acute mesenteric ischemia (adults), intussusception (kids)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friederichson
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu (hereditary hemorrhagic telangiectasia)
Dry eyes, dry mouth, arthritis
Sjogren
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener (dynein arm defect of cilia)
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan (HGPRT defic) (X-linked)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Bone pain, bone enlargement, arthritis
Paget disease of bone
Constipation, abdominal pain, anemia, neurologic deficits in a child
Lead poisoning
Indurated, ulcerated genital lesion (painful and painless)
Painful: chancroid (haemophilus ducreyi)
Painless: chancre (primary syphilis)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury) “waiter’s tip”
Cherry-red spots on macula
Tay-Sachs (ganglioside accum), Niemann-Pick (sphingomyelin accum), central retinal artery occlusion
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Krabbe vs Metachromatic leukodystrophy
Both: neuro degen, peripheral neuropathy. Optic atrophy only in Krabbe
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (Vitamin C defic: can’t hydroxylate proline/lysine for collagen synthesis)
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles/rubeola)
Abdominal pain, ascites, hepatomegaly
Budd-Chiari
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
Child uses arms to stand up from squat
Gowers sign: Duchenne musc dystrophy
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
Chorea, dementia, caudate degeneration
Huntington’s
Sarcomas, breast cancer, brain tumor, adrenocortical carcinmoa, leukemia
Li-Fraumeni