HOSA PATHOPHYSIOLOGY QUESTIONS AND
ANSWERS LATEST UPDATE
Angelman syndrome
Deletion of normally active maternal allele. Mental retardation, seizures, ataxia,
inappropriate laughter ("happy puppet")
Canavan disease
autosomal recessive, chromosome 17
enzyme aspartoacylase
hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive
leukodstrophy, and death in 1st decade
coeliac disease
protein gluten is not properly broken down
cystic fibrosis
Hereditary condition that causes the exocrine glands to malfunction. The patient
produces very thick mucus that causes severe congestion within the lungs and digestive
system.
down syndrome
Trisomy 21, a condition of retardation and associated physical disorders caused by an
extra chromosome in one's genetic makeup
duchenne muscular distrophy
A human genetic disease caused by a sex-linked recessive allele; characterized by
progressive weakening and loss of muscle tissue
hemophillia
rare bleeding disorder in which your blood doesnt clot normally.
klinefelter's syndrome
a chromosomal trisomy in which males have an extra X chromosome resulting in an
XXy condition; affected individuals typically have reduced fertility
neurofibromatosis
autosomal dominant disease characterized by numerous neurofibromas and by spots
on the skin and often by developmental abnormalities
phenlketonuria
A genetic disorder caused by a particular pair of homozygous recessive genes and
characterized by the inability to break down phenylalanine, an amino acid found in many
high-protein foods. The resulting high blood levels of phenylalanine cause mental
retardation
polycystic kidney disease
kidney disease characterized by enlarged kidneys containing many cysts
sickle-cell disease
, A human genetic disease caused by a recessive allele that results in the substitution of
a single amino acid in the hemoglobin protein; characterized by deformed red blood
cells that can lead to numerous symptoms.
turner syndrome
where females only have a single x chromosome instead of two
acne
an inflammatory disease involving the sebaceous glands of the skin
alopecia
loss of hair (especially on the head) or loss of wool or feathers
angioma
a tumor consisting of a mass of blood or lymphatic vessels
athlete's foot
Fungus infection usually in the skin of the toes and soles
boil
a painful sore with a hard pus-filled core
basal cell carcinoma
Most common and least severe type of skin cancer; often characterized by light or
pearly nodules.
bowen's disease
carcinoma in situ on shaft of penis (* risk of visceral ca)
callus
an area of skin that is thick or hard from continual pressure or friction (as the sole of the
foot)
corns
hard growths on the feet or palms of the hands
cellulitis
an inflammation of body tissue (especially that below the skin) characterized by fever
and swelling and redness and pain
dermatitis
inflammation of the skin
dermatofibroma
fibrous tumor of the skin
eczema
Inflammatory, painful itching disease of the skin, acute or chronic in nature, presenting
many forms of dry or moist lesions.
erythrasma
often as a interdigital toe web maceration with fissures as well as shiny or scaly brown-
red patches
erysipelas
an acute streptococcal infection characterized by deep-red inflammation of the skin and
mucous membranes
folliculitis
inflammation of a hair follicle
herpes
A viral infection causing small painful blisters and inflammation, most commonly at the
junction of skin and mucous membrane in the mouth or nose or in the genitals
ANSWERS LATEST UPDATE
Angelman syndrome
Deletion of normally active maternal allele. Mental retardation, seizures, ataxia,
inappropriate laughter ("happy puppet")
Canavan disease
autosomal recessive, chromosome 17
enzyme aspartoacylase
hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive
leukodstrophy, and death in 1st decade
coeliac disease
protein gluten is not properly broken down
cystic fibrosis
Hereditary condition that causes the exocrine glands to malfunction. The patient
produces very thick mucus that causes severe congestion within the lungs and digestive
system.
down syndrome
Trisomy 21, a condition of retardation and associated physical disorders caused by an
extra chromosome in one's genetic makeup
duchenne muscular distrophy
A human genetic disease caused by a sex-linked recessive allele; characterized by
progressive weakening and loss of muscle tissue
hemophillia
rare bleeding disorder in which your blood doesnt clot normally.
klinefelter's syndrome
a chromosomal trisomy in which males have an extra X chromosome resulting in an
XXy condition; affected individuals typically have reduced fertility
neurofibromatosis
autosomal dominant disease characterized by numerous neurofibromas and by spots
on the skin and often by developmental abnormalities
phenlketonuria
A genetic disorder caused by a particular pair of homozygous recessive genes and
characterized by the inability to break down phenylalanine, an amino acid found in many
high-protein foods. The resulting high blood levels of phenylalanine cause mental
retardation
polycystic kidney disease
kidney disease characterized by enlarged kidneys containing many cysts
sickle-cell disease
, A human genetic disease caused by a recessive allele that results in the substitution of
a single amino acid in the hemoglobin protein; characterized by deformed red blood
cells that can lead to numerous symptoms.
turner syndrome
where females only have a single x chromosome instead of two
acne
an inflammatory disease involving the sebaceous glands of the skin
alopecia
loss of hair (especially on the head) or loss of wool or feathers
angioma
a tumor consisting of a mass of blood or lymphatic vessels
athlete's foot
Fungus infection usually in the skin of the toes and soles
boil
a painful sore with a hard pus-filled core
basal cell carcinoma
Most common and least severe type of skin cancer; often characterized by light or
pearly nodules.
bowen's disease
carcinoma in situ on shaft of penis (* risk of visceral ca)
callus
an area of skin that is thick or hard from continual pressure or friction (as the sole of the
foot)
corns
hard growths on the feet or palms of the hands
cellulitis
an inflammation of body tissue (especially that below the skin) characterized by fever
and swelling and redness and pain
dermatitis
inflammation of the skin
dermatofibroma
fibrous tumor of the skin
eczema
Inflammatory, painful itching disease of the skin, acute or chronic in nature, presenting
many forms of dry or moist lesions.
erythrasma
often as a interdigital toe web maceration with fissures as well as shiny or scaly brown-
red patches
erysipelas
an acute streptococcal infection characterized by deep-red inflammation of the skin and
mucous membranes
folliculitis
inflammation of a hair follicle
herpes
A viral infection causing small painful blisters and inflammation, most commonly at the
junction of skin and mucous membrane in the mouth or nose or in the genitals
