HOSA-PATHOPHYSIOLOGY COMPLETE
COMPREHENSIVE STUDY GUIDE
Angelman syndrome - ANS-Deletion of normally active maternal allele. Mental
retardation, seizures, ataxia, inappropriate laughter ("happy puppet")
Canavan disease - ANS-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 - ANS-protein gluten is not properly broken down
cystic fibrosis - ANS-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 - ANS-Trisomy 21, a condition of retardation and associated physical
disorders caused by an extra chromosome in one's genetic makeup
duchenne muscular distrophy - ANS-A human genetic disease caused by a sex-linked
recessive allele; characterized by progressive weakening and loss of muscle tissue
hemophillia - ANS-rare bleeding disorder in which your blood doesnt clot normally.
klinefelter's syndrome - ANS-a chromosomal trisomy in which males have an extra X
chromosome resulting in an XXy condition; affected individuals typically have reduced
fertility
neurofibromatosis - ANS-autosomal dominant disease characterized by numerous
neurofibromas and by spots on the skin and often by developmental abnormalities
phenlketonuria - ANS-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 - ANS-kidney disease characterized by enlarged kidneys
containing many cysts
sickle-cell disease - ANS-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 - ANS-where females only have a single x chromosome instead of two
acne - ANS-an inflammatory disease involving the sebaceous glands of the skin
alopecia - ANS-loss of hair (especially on the head) or loss of wool or feathers
angioma - ANS-a tumor consisting of a mass of blood or lymphatic vessels
athlete's foot - ANS-Fungus infection usually in the skin of the toes and soles
boil - ANS-a painful sore with a hard pus-filled core
basal cell carcinoma - ANS-Most common and least severe type of skin cancer; often
characterized by light or pearly nodules.
bowen's disease - ANS-carcinoma in situ on shaft of penis (* risk of visceral ca)
callus - ANS-an area of skin that is thick or hard from continual pressure or friction (as
the sole of the foot)
corns - ANS-hard growths on the feet or palms of the hands
cellulitis - ANS-an inflammation of body tissue (especially that below the skin)
characterized by fever and swelling and redness and pain
dermatitis - ANS-inflammation of the skin
dermatofibroma - ANS-fibrous tumor of the skin
eczema - ANS-Inflammatory, painful itching disease of the skin, acute or chronic in
nature, presenting many forms of dry or moist lesions.
erythrasma - ANS-often as a interdigital toe web maceration with fissures as well as
shiny or scaly brown-red patches
erysipelas - ANS-an acute streptococcal infection characterized by deep-red
inflammation of the skin and mucous membranes
folliculitis - ANS-inflammation of a hair follicle
herpes - ANS-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
,hives - ANS-an itchy skin eruption characterized by weals with pale interiors and well-
defined red margins
impetigo - ANS-Bacterial skin infection characterized by isolated pustules that become
crusted and rupture
jock itch - ANS-fungal infection of the groin (most common in men)
kaposi's sarcoma - ANS-malignant tumor of the blood vessels associated with AIDS
keloid - ANS-overgrowth of scar tissue
keratoacanthoma - ANS-skin tumor that grows rapidly (especially in older people) and
resembles a carcinoma but does not spread
keratosis - ANS-a skin condition marked by an overgrowth of layers of horny skin
pediculosis - ANS-lice infection
lipoma - ANS-a tumor consisting of fatty tissue
lymphadenitis - ANS-inflammation of lymph nodes
malignant melanoma - ANS-Most serious form of skin cancer; often characterized by
black or dark brown patches on the skin that may appear uneven in texture, jagged, or
raised.
melasma - ANS-a tan discoloration of a woman's face that is associated with pregnancy
or with the use of oral contraceptives
miliaria - ANS-obstruction of the sweat ducts during high heat and humidity
photoallergy - ANS-an allergic type of sensitivity to light
psoriasis - ANS-a chronic skin disease characterized by dry red patches covered with
scales
raynaud's disease - ANS-This disease is an intermittent spasm of the digital arteries &
arterioles resulting in decreased circulation to the fingers & toes, sometimes tips of nose
& ears are affected. Related to vasospastic disorders & disturbance with innervations of
the SNS.
ring worm - ANS-when a fungus forms a mycelium directly with the outer layer of the
skin other than the bottom of the foot such as the scalp and produces a red scaling sore
shingles - ANS-eruptions along a nerve path often accompanied by severe neuralgia
, squamous cell carcinoma - ANS-Type of skin cancer more serious than basal cell
carcinoma; often characterized by scaly red papules or nodules.
verruca - ANS-an epidermal tumor caused by a papilloma virus, also called a wart
Astrovirus - ANS-Naked, (+)ssRNA that cause villous blunting, irregular surface
epithelium with inflammatory cell infiltration; seen most in children under 12 months -
diarrhea, vomiting, fever with mild dehyrdration for 4-5 days; fecal-oral spread
Chickenpox - ANS-highly contagious, acute viral infection that is common in children
and young adults
Dengue Virus - ANS-+ssRNA, causes hemorrhagic fever. Mosquito bite causes viremia,
fever, rash. Confirm with serology, no vaccines or anti-virals. Increased severity
infection if previously infected by another serotype
Ebola - ANS-A contagious viral disease originating in Africa. It is transmitted by blood
and body fluids and causes body organs and vessels to leak blood, usually resulting in
death.
Foot-and-mouth disease - ANS-highly contagious viral infection that affects pigs, cattle,
sheep, goats, and deers; it can also but rarely infect humans (when we drink milk of
infected animals)
Hepatitis A - ANS-an acute but benign form of viral hepatitis caused by an RNA virus
that does not persist in the blood serum and is usually transmitted by ingesting food or
drink that is contaiminated with fecal matter
Hepatitis B - ANS-an acute (sometimes fatal) form of viral hepatitis caused by a DNA
virus that tends to persist in the blood serum and is transmitted by sexual contact or by
transfusion or by ingestion of contaminated blood or other bodily fluids
Hepatitis C - ANS-inflammation of th eliver caused by the HCV, transmitted by exposure
to infected blood (rarely contracted sexually)
Herpes - ANS-viral diseases causing eruptions of the skin or mucous membrane
HIV - ANS-the virus that causes acquired immune deficiency syndrome (AIDS)
Human Papilomavirus - ANS-this diseases warts are the most easily recognized
manifestation of symptoms, occurring on the head or shaft of the penis, at the vaginal
opening, or around the anus
Influenza - ANS-an acute febrile highly contagious viral disease
COMPREHENSIVE STUDY GUIDE
Angelman syndrome - ANS-Deletion of normally active maternal allele. Mental
retardation, seizures, ataxia, inappropriate laughter ("happy puppet")
Canavan disease - ANS-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 - ANS-protein gluten is not properly broken down
cystic fibrosis - ANS-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 - ANS-Trisomy 21, a condition of retardation and associated physical
disorders caused by an extra chromosome in one's genetic makeup
duchenne muscular distrophy - ANS-A human genetic disease caused by a sex-linked
recessive allele; characterized by progressive weakening and loss of muscle tissue
hemophillia - ANS-rare bleeding disorder in which your blood doesnt clot normally.
klinefelter's syndrome - ANS-a chromosomal trisomy in which males have an extra X
chromosome resulting in an XXy condition; affected individuals typically have reduced
fertility
neurofibromatosis - ANS-autosomal dominant disease characterized by numerous
neurofibromas and by spots on the skin and often by developmental abnormalities
phenlketonuria - ANS-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 - ANS-kidney disease characterized by enlarged kidneys
containing many cysts
sickle-cell disease - ANS-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 - ANS-where females only have a single x chromosome instead of two
acne - ANS-an inflammatory disease involving the sebaceous glands of the skin
alopecia - ANS-loss of hair (especially on the head) or loss of wool or feathers
angioma - ANS-a tumor consisting of a mass of blood or lymphatic vessels
athlete's foot - ANS-Fungus infection usually in the skin of the toes and soles
boil - ANS-a painful sore with a hard pus-filled core
basal cell carcinoma - ANS-Most common and least severe type of skin cancer; often
characterized by light or pearly nodules.
bowen's disease - ANS-carcinoma in situ on shaft of penis (* risk of visceral ca)
callus - ANS-an area of skin that is thick or hard from continual pressure or friction (as
the sole of the foot)
corns - ANS-hard growths on the feet or palms of the hands
cellulitis - ANS-an inflammation of body tissue (especially that below the skin)
characterized by fever and swelling and redness and pain
dermatitis - ANS-inflammation of the skin
dermatofibroma - ANS-fibrous tumor of the skin
eczema - ANS-Inflammatory, painful itching disease of the skin, acute or chronic in
nature, presenting many forms of dry or moist lesions.
erythrasma - ANS-often as a interdigital toe web maceration with fissures as well as
shiny or scaly brown-red patches
erysipelas - ANS-an acute streptococcal infection characterized by deep-red
inflammation of the skin and mucous membranes
folliculitis - ANS-inflammation of a hair follicle
herpes - ANS-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
,hives - ANS-an itchy skin eruption characterized by weals with pale interiors and well-
defined red margins
impetigo - ANS-Bacterial skin infection characterized by isolated pustules that become
crusted and rupture
jock itch - ANS-fungal infection of the groin (most common in men)
kaposi's sarcoma - ANS-malignant tumor of the blood vessels associated with AIDS
keloid - ANS-overgrowth of scar tissue
keratoacanthoma - ANS-skin tumor that grows rapidly (especially in older people) and
resembles a carcinoma but does not spread
keratosis - ANS-a skin condition marked by an overgrowth of layers of horny skin
pediculosis - ANS-lice infection
lipoma - ANS-a tumor consisting of fatty tissue
lymphadenitis - ANS-inflammation of lymph nodes
malignant melanoma - ANS-Most serious form of skin cancer; often characterized by
black or dark brown patches on the skin that may appear uneven in texture, jagged, or
raised.
melasma - ANS-a tan discoloration of a woman's face that is associated with pregnancy
or with the use of oral contraceptives
miliaria - ANS-obstruction of the sweat ducts during high heat and humidity
photoallergy - ANS-an allergic type of sensitivity to light
psoriasis - ANS-a chronic skin disease characterized by dry red patches covered with
scales
raynaud's disease - ANS-This disease is an intermittent spasm of the digital arteries &
arterioles resulting in decreased circulation to the fingers & toes, sometimes tips of nose
& ears are affected. Related to vasospastic disorders & disturbance with innervations of
the SNS.
ring worm - ANS-when a fungus forms a mycelium directly with the outer layer of the
skin other than the bottom of the foot such as the scalp and produces a red scaling sore
shingles - ANS-eruptions along a nerve path often accompanied by severe neuralgia
, squamous cell carcinoma - ANS-Type of skin cancer more serious than basal cell
carcinoma; often characterized by scaly red papules or nodules.
verruca - ANS-an epidermal tumor caused by a papilloma virus, also called a wart
Astrovirus - ANS-Naked, (+)ssRNA that cause villous blunting, irregular surface
epithelium with inflammatory cell infiltration; seen most in children under 12 months -
diarrhea, vomiting, fever with mild dehyrdration for 4-5 days; fecal-oral spread
Chickenpox - ANS-highly contagious, acute viral infection that is common in children
and young adults
Dengue Virus - ANS-+ssRNA, causes hemorrhagic fever. Mosquito bite causes viremia,
fever, rash. Confirm with serology, no vaccines or anti-virals. Increased severity
infection if previously infected by another serotype
Ebola - ANS-A contagious viral disease originating in Africa. It is transmitted by blood
and body fluids and causes body organs and vessels to leak blood, usually resulting in
death.
Foot-and-mouth disease - ANS-highly contagious viral infection that affects pigs, cattle,
sheep, goats, and deers; it can also but rarely infect humans (when we drink milk of
infected animals)
Hepatitis A - ANS-an acute but benign form of viral hepatitis caused by an RNA virus
that does not persist in the blood serum and is usually transmitted by ingesting food or
drink that is contaiminated with fecal matter
Hepatitis B - ANS-an acute (sometimes fatal) form of viral hepatitis caused by a DNA
virus that tends to persist in the blood serum and is transmitted by sexual contact or by
transfusion or by ingestion of contaminated blood or other bodily fluids
Hepatitis C - ANS-inflammation of th eliver caused by the HCV, transmitted by exposure
to infected blood (rarely contracted sexually)
Herpes - ANS-viral diseases causing eruptions of the skin or mucous membrane
HIV - ANS-the virus that causes acquired immune deficiency syndrome (AIDS)
Human Papilomavirus - ANS-this diseases warts are the most easily recognized
manifestation of symptoms, occurring on the head or shaft of the penis, at the vaginal
opening, or around the anus
Influenza - ANS-an acute febrile highly contagious viral disease
