Med Study 2 Flashcards
(204 cards)
What is incontinentia pigmenti?
= an x-linked dominant disorder that causes skin lesions soon after birth
can mimic HSV
has 4 phases of skin lesions that take place over the first few years
also involves dental, hair and nail abnormalities
can be associated with mental disability
This congenital condition mimics HSV in the newborn
Incontinentia pigmenti
complicating this is both can cause seizures
Can males and females both present with incontinentia pigmenti?
No, only female infants will present with this x-linked dominant disorder, since it is lethal in hemizygous males
Describe the appearance of the first phase of skin lesions in incontinentia pigmenti
inflammatory vesicles and bullae all over the trunk and extremities
Supravalvular aortic stenosis, hypersensitivity to loud sounds, major interest and enthusiasm for music, difficulty with certain food textures/clothing textures, hypercalcemia, and mild to moderate intellectual disability =
Williams syndrome
Williams syndrome buzz words
outgoing social personality
mild intellectual disability
psych issues
aortic stenosis
liking music
“Cocktail party personality” think
Williams syndrome
Cause of Williams Syndrome
sporadic microdeletion on chromosome 7
Elfin like facies think
Williams Syndrome
Williams syndrome genetics
microdeletion on chromosome 7
A child has unusual facial features, short stature, pulmonic stenosis, bleeding problems and skeletal malformations but normal or only very mildly impaired intellectual ability. What syndrome does this child have?
Noonan Syndrome
Blank is a genetic disorder of connective tissue and is associated with aortic disection/weakness of the aorta, dislocation of the eye’s lens, being tall, and often have pectus deformities and scoliosis.
Marfan syndrome
Blank is a systemic vasculitis presenting with a purpuric rash and nephritis
IgA vasculitis
What are the PTT and PT in Hemophilia A?
PT/INR is normal
PTT is prolonged
In immune thrombocytopenia, what are the PT/INR and PTT?
Normal!
What are the PT/INR, PTT and platelets in DIC? (low/normal/high?)
PT/INR, PTT are prolonged
and plts are all low
In EBV mono, is it the anterior or posterior cervical lymph nodes that typically get swollen?
posterior
Conjunctivitis, exudative pharyngitis, and a morbilliform rash in the summer think
adenovirus
Who is most likely to get osteosarcomas?
adolescents during growth spurt
Most common presenting symptoms/findings for osteosarcoma
pain
swelling, that you can feel on exam
Does an osteoid osteoma usually cause persistent or intermittent pain?
Persistent
Stereotypical hand wringing is seen in this syndrome
Rett syndrome
Rett syndrome
= regression of motor and language milestones and acquired microcephaly starting around age 1, seen in girls
How to treat a digitalis/digoxin overdose:
Digoxin-specific Fab antibodies