Terms in this set (1076)
Budd-Chiari Syndrome (post hepatic
venous thrombosis). Associated with
Abdominal pain, ascites, Polycythemia vera.
hepatomegaly
Achilles tendon Xanthoma Familial Hypercholesterolemia
(absent/defective LDL receptors)
May have MI before age 20
Autosomal dominant
Waterhouse-Friedrichsen syndrome
(Neisseria meningitidis)
Adrenal hemorrhage,
hypotension, DIC
Anaphylaxis and/or IgA deficiency; C1 inhibitor deficiency would only cause
angioedema following angioedema, not anaphylaxis
blood transfusion
Arachnodactyly (spider Marfan Syndrome (FBN1 gene mutation
fingers), lens dislocation, chromosome 15 leads to
aortic dissection or
defective fibrillin)
aneurysm, hyperflexible
joints, pectus excavatum Autosomal Dominant
Athlete with polycythemia Secondary to EPO injection
1
, Pott disease (vertebral TB)
Back pain, fever, night
sweats
Neurofibromatosis type 2
S-100+, cerebellopontine angle
Bilateral acoustic
schwannomas
Bilateral hilar adenopathy, Sarcoidosis (non-caseating granulomas)
uveitis, high ACE,
hypercalcemia (activated
macrophages for Vit D),
interstitial fibrosis,
erythema nodosum, elevated
CD4:CD8 ratio on lavage;
asteroid bodies
Mucor or Rhizopus fungal infection
Black eschar on face of Travels through cribiform plate vessels
patient with diabetic
ketoacidosis
Blue sclera Osteogenesis Imperfecta (Type I
collagen defect forming triple helix)
Blue due to exposure of choroidal veins
Bluish line on gingiva and Burton line (lead poisoning) Basophilic
basophilic stippling stippling (rRNA remnants)
Constipation, anemia, CNS impairment
2
, Paget disease of bone (Increased
Bone pain, bone osteoclastic, then osteoblastic activity)
enlargement (hat size or Osteosarcoma or heart failure
hearing loss), arthritis
Aortic Regurgitation
Bounding pulses, wide pulse
pressure, diastolic heart
murmur, head bobbing
"Butterfly" facial rash or Systemic lupus erythematosus
discoid rash and Raynaud Type III Hypersensitivity (antigen-
phenomenon in a young
antibody complexes deposit) with
female
glomerulonephritis
Type II hypersensitivity with autoimmune
hemolysis
Carcinoma spread Lymphatics to lymph nodes (except HCC, Renal cell, follicular
thyroid and choriocarcinoma which spread hematogenously)
Sarcoma spread Hematogenously
Neurofibromatosis Type I,
pheochromocytoma, optic gliomas
Cafe-au-lait spots, Lisch
nodules (iris hemartoma),
cutaneous neurofibromas
Cafe-au-lait spots McCune-Albright syndrome
(unilateral), polyostotic (mosaicism, G-protein signaling
fibrous dysplasia, precocious mutation)
puberty, multiple endocrine
abnormalities
3
, Calf pseudohypertrophy Muscular dystrophy (Duchenne, due to
X-linked frameshift > truncated
dystrophin) Dilated cardiomyopathy
High CK
Kawasaki disease (treat with
IVIG and aspirin which inhibits
Cervical lymphadenopathy, TXA2)
desquamating rash on palms
and soles, coronary
aneurysms, red conjuctivae,
and strawberry tongue
4
Budd-Chiari Syndrome (post hepatic
venous thrombosis). Associated with
Abdominal pain, ascites, Polycythemia vera.
hepatomegaly
Achilles tendon Xanthoma Familial Hypercholesterolemia
(absent/defective LDL receptors)
May have MI before age 20
Autosomal dominant
Waterhouse-Friedrichsen syndrome
(Neisseria meningitidis)
Adrenal hemorrhage,
hypotension, DIC
Anaphylaxis and/or IgA deficiency; C1 inhibitor deficiency would only cause
angioedema following angioedema, not anaphylaxis
blood transfusion
Arachnodactyly (spider Marfan Syndrome (FBN1 gene mutation
fingers), lens dislocation, chromosome 15 leads to
aortic dissection or
defective fibrillin)
aneurysm, hyperflexible
joints, pectus excavatum Autosomal Dominant
Athlete with polycythemia Secondary to EPO injection
1
, Pott disease (vertebral TB)
Back pain, fever, night
sweats
Neurofibromatosis type 2
S-100+, cerebellopontine angle
Bilateral acoustic
schwannomas
Bilateral hilar adenopathy, Sarcoidosis (non-caseating granulomas)
uveitis, high ACE,
hypercalcemia (activated
macrophages for Vit D),
interstitial fibrosis,
erythema nodosum, elevated
CD4:CD8 ratio on lavage;
asteroid bodies
Mucor or Rhizopus fungal infection
Black eschar on face of Travels through cribiform plate vessels
patient with diabetic
ketoacidosis
Blue sclera Osteogenesis Imperfecta (Type I
collagen defect forming triple helix)
Blue due to exposure of choroidal veins
Bluish line on gingiva and Burton line (lead poisoning) Basophilic
basophilic stippling stippling (rRNA remnants)
Constipation, anemia, CNS impairment
2
, Paget disease of bone (Increased
Bone pain, bone osteoclastic, then osteoblastic activity)
enlargement (hat size or Osteosarcoma or heart failure
hearing loss), arthritis
Aortic Regurgitation
Bounding pulses, wide pulse
pressure, diastolic heart
murmur, head bobbing
"Butterfly" facial rash or Systemic lupus erythematosus
discoid rash and Raynaud Type III Hypersensitivity (antigen-
phenomenon in a young
antibody complexes deposit) with
female
glomerulonephritis
Type II hypersensitivity with autoimmune
hemolysis
Carcinoma spread Lymphatics to lymph nodes (except HCC, Renal cell, follicular
thyroid and choriocarcinoma which spread hematogenously)
Sarcoma spread Hematogenously
Neurofibromatosis Type I,
pheochromocytoma, optic gliomas
Cafe-au-lait spots, Lisch
nodules (iris hemartoma),
cutaneous neurofibromas
Cafe-au-lait spots McCune-Albright syndrome
(unilateral), polyostotic (mosaicism, G-protein signaling
fibrous dysplasia, precocious mutation)
puberty, multiple endocrine
abnormalities
3
, Calf pseudohypertrophy Muscular dystrophy (Duchenne, due to
X-linked frameshift > truncated
dystrophin) Dilated cardiomyopathy
High CK
Kawasaki disease (treat with
IVIG and aspirin which inhibits
Cervical lymphadenopathy, TXA2)
desquamating rash on palms
and soles, coronary
aneurysms, red conjuctivae,
and strawberry tongue
4
