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
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
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.
ring worm
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
eruptions along a nerve path often accompanied by severe neuralgia
squamous cell carcinoma
Type of skin cancer more serious than basal cell carcinoma; often characterized by scaly red
papules or nodules.
verruca
an epidermal tumor caused by a papilloma virus, also called a wart
Astrovirus
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
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