HOSA Pathophysiology Exam 2025
Questions and Answers
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
COPYRIGHT © 2025 BY OLIVIA WEST, ALL RIGHTS RESERVED 1
,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.
COPYRIGHT © 2025 BY OLIVIA WEST, ALL RIGHTS RESERVED 2
,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
hives - ✔✔an itchy skin eruption characterized by weals with pale interiors and well-
defined red margins
impetigo - ✔✔Bacterial skin infection characterized by isolated pustules that become
crusted and rupture
COPYRIGHT © 2025 BY OLIVIA WEST, ALL RIGHTS RESERVED 3
, jock itch - ✔✔fungal infection of the groin (most common in men)
kaposi's sarcoma - ✔✔malignant tumor of the blood vessels associated with AIDS
keloid - ✔✔overgrowth of scar tissue
keratoacanthoma - ✔✔skin tumor that grows rapidly (especially in older people) and
resembles a carcinoma but does not spread
keratosis - ✔✔a skin condition marked by an overgrowth of layers of horny skin
pediculosis - ✔✔lice infection
lipoma - ✔✔a tumor consisting of fatty tissue
lymphadenitis - ✔✔inflammation of lymph nodes
malignant melanoma - ✔✔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 - ✔✔a tan discoloration of a woman's face that is associated with pregnancy or
with the use of oral contraceptives
miliaria - ✔✔obstruction of the sweat ducts during high heat and humidity
photoallergy - ✔✔an allergic type of sensitivity to light
psoriasis - ✔✔a chronic skin disease characterized by dry red patches covered with
scales
raynaud's disease - ✔✔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.
COPYRIGHT © 2025 BY OLIVIA WEST, ALL RIGHTS RESERVED 4
Questions and Answers
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
COPYRIGHT © 2025 BY OLIVIA WEST, ALL RIGHTS RESERVED 1
,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.
COPYRIGHT © 2025 BY OLIVIA WEST, ALL RIGHTS RESERVED 2
,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
hives - ✔✔an itchy skin eruption characterized by weals with pale interiors and well-
defined red margins
impetigo - ✔✔Bacterial skin infection characterized by isolated pustules that become
crusted and rupture
COPYRIGHT © 2025 BY OLIVIA WEST, ALL RIGHTS RESERVED 3
, jock itch - ✔✔fungal infection of the groin (most common in men)
kaposi's sarcoma - ✔✔malignant tumor of the blood vessels associated with AIDS
keloid - ✔✔overgrowth of scar tissue
keratoacanthoma - ✔✔skin tumor that grows rapidly (especially in older people) and
resembles a carcinoma but does not spread
keratosis - ✔✔a skin condition marked by an overgrowth of layers of horny skin
pediculosis - ✔✔lice infection
lipoma - ✔✔a tumor consisting of fatty tissue
lymphadenitis - ✔✔inflammation of lymph nodes
malignant melanoma - ✔✔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 - ✔✔a tan discoloration of a woman's face that is associated with pregnancy or
with the use of oral contraceptives
miliaria - ✔✔obstruction of the sweat ducts during high heat and humidity
photoallergy - ✔✔an allergic type of sensitivity to light
psoriasis - ✔✔a chronic skin disease characterized by dry red patches covered with
scales
raynaud's disease - ✔✔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.
COPYRIGHT © 2025 BY OLIVIA WEST, ALL RIGHTS RESERVED 4
