In birds, thymus-like gland that is an outgrowth of the cloaca and site for B cell maturation.
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 (acroparesthesias). Accounts for 1:117,000 live births; most common clinical features are telangiectases and corneal dystrophy; can be treated with biweekly infusions of recombinant human alpha-galactosidase A.
Arg(506)→Gln mutation, results in resistance to cleavage by activated protein C (an anticoagulant) leading to hypercoagulability. Found in 20% of patients with venous thromboembolism, 6% of U.S. population.
Neurodegenerative syndrome associated with symmetric intracerebral calcifications in basal ganglia, associated with cognitive and movement disorders including spastic paralysis, athetosis.
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.
Abdomen more tender with sitting up
Associated with muscle strain
Type XI glycogen storage disease, hepatic glycogenosis with renal Fanconi syndrome; caused by defect in GLUT-2 transporter. Characterized by proximal renal tubular dysfunction, impaired glucose and galactose utilization, liver and kidney glycogen accumulation. Presents as failure to thrive in first year with hepatomegaly and kidney enlargement.
Autosomal recessive disorder characterized by progressive bone marrow 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). Can be diagnosed by increased sensitivity of FA cells to bifunctional alkylating agents (e.g. diepoxybutane or mitomycin C).
Generalized dysfunction of proximal renal tubule leading to glycosuria, hyperphosphaturia, hypophasphatemia, aminoaciduria, and systemic acidosis; may be associated with outdated tetracyclines.
A lysosomal storage disease or sphingolipidosis from ceraminidase deficiency leading to painful and progressively deformed joints, subcutaneous nodules, granulomas, fatal in early life.
Hypersensitivity pneumonitis from exposure to antigens of microorganisms which colonize equipment used in farming, including from moldy hay, grain, silage (e.g. thermophilic actinomycetes, fungus such as Aspergillus umbrosus).
Cutis rhomboidalis nuchae.
In carotid arteritis, pressure along the carotid causing pain to spread in distal branches of external carotid to jaw, ear, and temple.
Alport's syndrome with leukocyte inclusions and macrothrombocytopenia; associated with mutations in nonmuscle myosin heavy chain-9.
Rheumatoid arthritis, splenomegaly, and neutropenia, and also leg ulcers; associated with HLA-DR4.
Stimulation of the cervix leading to contraction of the uterus through oxytocin release.
"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).
Erythema infectiosum, associated with parvovirus B19 infection, characterized by "slapped cheeks" and erythematous lacy eruption on the trunk and extremities.
Fourth disease, historically felt to be a separate form of rubella and then felt to be a non-entity but perhaps now is Staph scarlet fever Lancet 357:299 (2001); alternatively misdiagnosed cases of rubella or scarlet fever.
In de Quervain's tenosynovitis, dorsal thumb pain when the wrist is deviated in an ulnar fashion and the thumb is flexed across the palm.
Measles, also known as rubeola, caused by paramyxovirus, described in 1627.
Grading system for subarachnoid hemorrhage. Grade 1, no bleed; grade 2, <1 mm thick; grade 3 localized clot and/or layer >1 mm, high risk of vasospasm; grade 4, any thickness with intraventricular hemorrhage or parenchymal extension
See Miller Fisher syndrome.
High molecular weight kininogen; in intrinsic phase of coagulation, part of complex between factor XII, prekallikrein, and subendothelial collagen; facilitates conversion of XII to XIIa. Deficiency not associated with bleeding.
Associated with spread of gonococci or chlamydia: perihepatitis manifested by right upper quadrant or bilateral upper abdominal pain, tenderness, and occasionally by a hepatic friction rib.
GAD antibody negative diabetes in adult black patients with diabetic ketoacidosis and increased frequency of human leukocyte antigen DR3 and DR4.
Prekallikrein. In intrinsic phase of coagulation, converts XII to XIIa. Deficiency results in elevated PTT but with no clinical bleeding .
Angiodysgenetic necrotizing myelopathy, venous angiomatous malformation of the spinal cord and overlying meninges associated with ischemic damage and worsening neurologic symptoms in lumbosacral cord.
A catheter with a balloon at the tip; inflated balloon aids in retention of catheter in e.g. bladder. Developed by Frederic Foley (1891-1966) in the 1930s.
Phenylketonuria. Følling, a Norwegian physician who described PKU in 1934.
For treating tricuspid atresia, pulmonary atresia, or hypoplastic left heart syndrome, procedure developed in 1968 whereby IVC is connected to pulmonary artery; long term complications include arrhythmias and protein losing enteropathy because of edema in liver and small bowel.
Glycogen storage disease type III; see Cori's disease.
Galactorrhea-amenorrhea caused by a pituitary adenoma.
Ectopic sebaceous glands seen in healthy mouth; may be confused with Koplik's spots which has an erythematous halo by comparison.
In myocardial infarction, class I, PWP<18 and CI>2.2 L/min/m2, 2% mortality; class II, PWP>18 and CI>2.2, 10% mortality; class III, CI<2.2 and PWP<18, 12% mortality; class IV, PWP>18 and CI<2.2, 54% mortality.
In 20% of rubella, small, red macules on the soft palate that may later expand and coalesce; not pathognomonic since they may also appear in scarlet fever, roseola, mono.
Antibody that may be found in normal individuals and can cause false positive heterophile antibody test; guinea pig kidney cells contain Forsmann antigens; see Paul-Bunnell-Davidsohn test.
Optic atrophy, contralateral papilledema, and anosmia; may be associated with olfactory groove meningioma. Described by Robert Foster Kennedy, though first described by Gowers.
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).
Necrotizing infection of the perineal and genital fascia.
Filatov-Dukes's disease, also known as Staphylococcal scarlet fever, caused by Staph. aureus epidermolytic toxin, described in 1900.
Dorsal pontine injury giving rise to lateral gaze palsy, ipsilateral facial palsy, contralateral hemiparesis.
Idiopathic voiding dysfunction and urinary retention.
Chronic, pruritic, papular eruption occurring in areas with apocrine glands, affecting mainly women.
In hemorrhagic pancreatitis, ecchymosis of the inguinal ligament due to blood tracking from the retroperitoneum and collecting at the inguinal ligament.
In scurvy, dense zone of provisional calcification at the margins of the growth plate (white line); see also Trummerfeld zone.
Gamma heavy chain disease, a rare B cell lymphoproliferative disease characterized by lymphadenopathy, fever, anemia, malaise, hepatosplenomegaly, and weakness, most distinctive symptom palatal edema.
Earlobe crease, associated with coronary artery disease (N Engl J Med. 1973;289:327-8).
Female external genitalia in 46 XY patients, late renal failure, streak gonads, and high risk of gonadoblastoma; associated with mutation in WT1 gene.
Delusionalbelief that a single person can assume the identity of different people through disguise; after Italian actor Fregoli; see also Capgras syndrome.
Osteochondrosis of second metatarsal head; associated with avascular necrosis of metatarsal head; most patients are female.
Gustatory sweating or auriculotemporal syndrome seen in the context of parotid surgery; ipsilateral forehead becoming drenched with sweat. Attributed to aberrant neuronal regeneration resulting in parasympathetic cholinergic innervation of cutaneous sympathetic receptors.
Graph of dilatation of cervix v. fetal descent during active labor.
A spinocerebellar degeneration, autosomal recessive form manifesting at around 11 years, less common autosomal dominant form around 20 years. Initial symptoms: gait ataxia, hand clumsiness, dysarthria, deep tendon reflexes absent (extensor plantar present), joint position and vibratory sense impaired, sometimes loss of pain and temperature, paralysis over course of 20 years. High incidence of diabetes and hypertrophic cardiomyopathy (dilated less common) and arrhythmias.
Seen in Friedreich's ataxia, pes cavus with hammer toe.
Exaggerated y descent in patients with increased venous pressure, associated with an S3; also associated with constrictive pericarditis.
Spinal block from tumor or inflammatory conditions, etc. causing increased protein in CSF, resulting in xanthochromia and increased coagulability in CSF. Described by Georges Froin, a French physician born 1874.
For 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 (rather than extension, as would be seen with normal use of the adductor pollicus).
Most common indication for corneal transplantation, a progressive bilateral condition with corneal edema from dysfunction of the corneal endothelium. Occurs in 5% of people over age of 40.
Congenital muscular dystrophy in combination with cortical dysgenesis (micropolygyria); autosomal recessive disorder, more common in Japan. Due to mutation in fukutin.
Eponyms 
Ingrown toenail
Nematocysts
Cryptitis
Vascular ring
Vesiculobullous rashes
Black hairy tongue
Abscess