Athlete with polycytheme
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Secondary to EPO injections
Bilateral Acoustic Schwannomas
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Neurofibromatosis 2
Elastic skin,
hypermobility of joints,
,Increased bleeding tendency
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Ehlers-Danlos syndrome
(type V collagen defect, type III collagen defect seen in vascular subtype
of ED)
abdominal pain (child w/ recent URTI),
Palpable pruritic purpura on buttocks/ legs,
hematuria
joint pain
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Henoch Schonlein Purpura
(IgA vasculitis affecting skin and kidneys)
Telangiectasias,
recurrent epistaxis,
skin discoloration,
arteriovenous malformations,
GI bleeding, hematuria
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, Osler-Weber-Rendu syndrome
Fibrous plaques in soft tissue of penis with abnormal curvature
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Peyronie Disease
(connective tissue disorder)
(chronic inflammation of the tunica albuginea)
Rash on palms and soles
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Coxsackie A,
Secondary syphilis,
Rocky Mountain Spotted Fever
Red urine in the morning,
fragile RBCs
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Paroxysmal nocturnal hemoglobinuria (PNH)
Chronic exercise intolerance with myalgia,
fatigue,
painful cramps,
myoglobinuria
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McArdle Disease
(skeletal muscle glycogen phosphorylase deficiency)
Unilateral facial drooping involving forehead
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LMN facial nerve CN VII palsy
UMN lesions spare the forehead
Chorea,
dementia,
caudal degeneration
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Secondary to EPO injections
Bilateral Acoustic Schwannomas
Give this one a try later!
Neurofibromatosis 2
Elastic skin,
hypermobility of joints,
,Increased bleeding tendency
Give this one a try later!
Ehlers-Danlos syndrome
(type V collagen defect, type III collagen defect seen in vascular subtype
of ED)
abdominal pain (child w/ recent URTI),
Palpable pruritic purpura on buttocks/ legs,
hematuria
joint pain
Give this one a try later!
Henoch Schonlein Purpura
(IgA vasculitis affecting skin and kidneys)
Telangiectasias,
recurrent epistaxis,
skin discoloration,
arteriovenous malformations,
GI bleeding, hematuria
Give this one a try later!
, Osler-Weber-Rendu syndrome
Fibrous plaques in soft tissue of penis with abnormal curvature
Give this one a try later!
Peyronie Disease
(connective tissue disorder)
(chronic inflammation of the tunica albuginea)
Rash on palms and soles
Give this one a try later!
Coxsackie A,
Secondary syphilis,
Rocky Mountain Spotted Fever
Red urine in the morning,
fragile RBCs
, Give this one a try later!
Paroxysmal nocturnal hemoglobinuria (PNH)
Chronic exercise intolerance with myalgia,
fatigue,
painful cramps,
myoglobinuria
Give this one a try later!
McArdle Disease
(skeletal muscle glycogen phosphorylase deficiency)
Unilateral facial drooping involving forehead
Give this one a try later!
LMN facial nerve CN VII palsy
UMN lesions spare the forehead
Chorea,
dementia,
caudal degeneration
Give this one a try later!
