FABRY'S DISEASE
X-linked recessive sphingolipidosis (sulfatidose) alpha-galactosidase deficiency resulting in increased globosides, reddish-purple skin rash, kidney and heart failure, peripheral neuropathy, pain in lower extremities
FACTOR V LEIDEN
Arg(506)->Gln, results in resistance to cleavage by activated protein C (an anticoagulant), found in 20% of patients with venous thromboembolism, 6% of U.S. population
FALLOT, TETRALOGY OF
1. ventricular septal defect; 2. infundibular, valvar, or supravalvar pulmonic stenosis; 3. an anteriorly displaced aorta that receives blood from both ventricles; 4. right ventricular hypertrophy
FANCONI'S ANEMIA
autosomal recessive, predisposal to aplastic anemia, progressive bone failure at age 5-7, congenital malformations (frequently defects in thumbs or forearms, kidneys, GI, skin); 20% develop cancer (primarily AML but also in skin, GI, GU); diagnosed by seeing increased sensitivity of FA cells to bifunctional alkylating agents (e.g. diepoxybutane or mitomycin C)
FANCONI'S SYNDROME
generalized dysfunction of proximal renal tubule leading to glycosuria, hyperphosphaturia, hypophasphatemia, aminoaciduria, and systemic acidosis; may be associated with out-dated tetracyclines
FARBER'S DISEASE
sphingolipidosis from ceraminidase deficiency leading to painful and progressively deformed joints, subcutaneous nodules, granulomas, fatal in early life
FARMER'S SKIN
cutis rhomboidalis nuchae
FELTY'S SYNDROME
the combined features of rheumatoid arthritis, splenomegaly, and neutropenia, and leg ulcers; associated with HLA-DR
FERGUSON'S REFLEX
anesthesia in ob, interruption of oxytocin release in response to cervical dilatation may cause uterine inhibition
FETOR HEPATICUS
"musty" or "sweet odor" from the formation of mercaptans by the action of GI bacteria on the sulfur-containing amino acid methionine and shunting of splanchnic blood from the portal into the system circulation (portosystemic shunting)
FIFTH DISEASE
erythema infectiosum, associated with parvovirus B19 infection, characterized by "slapped cheeks" and erythematous lacy eruption on the trunk and extremities; other 4 childhood rash diseases: measles, rubella, scarlet fever, and roseola (herpesvirus VI)
FISHER'S SYNDROME
ataxia, ophthalmoplegia, areflexia; a form of polyneuroradiculitis
FITZ-HUGH-CURTIS SYNDROME
associated with spread of gonococci or chlamydia: perihepatitis manifested by right upper quadrant or bilateral upper abdominal pain and tenderness and occasionally by a hepatic friction rib
FLATBUSH DIABETES
GAD antibody negative NIDDM in adult black subjects with diabetic ketoacidosis and increased frequency of human leukocyte antigen DR3 and DR4
FOIX-ALAJOUANINE DISEASE
angiodysgenetic necrotizing myelopathy, venous angiomatous malformation of the spinal cord and overlying meninges associated with ischemia and worsening neurologic symptoms in lumbosacral cord
FORDYCE'S SPOTS
ectopic sebaceous glands seen in healthy mouth; may be confused with Koplik's spots which has an erythematous halo by comparison
FORRESTER CLASSIFICATION
in myocardial infarction, I, PWP2.2 L/min/m2, 2% mort; II, PWP>18 and CI>2.2, 10% mort; III, CI18 and CI<2.2, 54% mort
FORSCHEIMER SPOTS
in rubella, punctate soft palate macules
FOSTER KENNEDY SYNDROME
optic atrophy, contralateral papilledema, and anosmia; may be associated with olfactory groove meningioma
FOTHERGILL'S SIGN
in rectus sheath hematomas, tender mass that does not cross the midline and remains palpable when patient tenses the rectus muscle (bluish discoloration not usually seen until 3 or 4 days)
FOURNIER'S GANGRENE
necrotizing infection of the perineal and genital fascia
FOUVILLE'S SYNDROME
dorsal pontine injury giving rise to lateral gaze palsy, ipsilateral facial palsy, contralateral hemiparesis
FOX'S SIGN
in hemorrhagic pancreatitis, ecchymosis of the inguinal ligament due to blood tracking from the retroperitoneum and collecting at the inguinal ligament
FRANK'S SIGN
earlobe crease, associated with CAD (N Engl J Med. 1973;289:327-8)
FRANKLIN'S DISEASE
gamma heavy chain disease, characterized by LAD, fever, anemia, malaise, HSM, and weakness, most distinctive symptom palatal edema
FREY SYNDROME
gustatory sweating or auriculotemporal syndrome seen in the context of parotid surgery; ipsilateral forehead becoming drenched with sweat apparently because of some salivery nerve fibers connecting with autonomic efferents
FRIEDREICH'S ATAXIA
a spinocerebellar degeneration, AR manifesting at 11 years, a less common AD 20 years; initial symptoms, gait ataxia, hand clumsiness, dysarthria, DTRs absent (extensor plantar present), joint position and vibratory sense impaired, sometimes loss of pain and temperature, paralyzed over course of 20 years, high incidence of diabetes and hypertrophic cardiomyopathy (dilated less common) and arrhythmias
FRIEDREICH'S FOOT
seen in Friedreich's ataxia, pes cavus with hammer toe
FRIEDREICH'S SIGN
exaggerated y descent in patients with increased venous pressure, associated with an S3; also associated with constrictive pericarditis
FROMENT'S SIGN
diagnosis of ulnar nerve lesion; caused by flexor pollicus longus (median nerve) which comes into action when the patient attempts to grip a flat object between the thumb and the hand, and causes flexion at the interphalangeal joint
Note: Eponyms Database Author: Andrew J. Yee, M.D. (website: eponyms.net)
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