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93 Cards in this Set

  • Front
  • Back
Birt Hogg Dube Syndrome
Fibrofolliculomas
Trichodiscomas
Acrochordons
Pulmonary cysts
Chromophobe rcc, oncocytoma
Favre Racouchot Syndrome
Cysts & comedones on sun-damaged skin
Stewart Treves Syndrome
Angiosarcoma developing in long-standing lymphedema
McCune Albright Syndrome
Endocrine hyperfunction
Polyostotic fibrous dysplasia
Unilateral cafe-au-lait spots
(AD)
Noonan Syndrome
"Male Turners"
Congenital heart defects
Short stature
Impaired clotting
Webbed neck
Pectus excavatum
(AD)
von Recklinghausen disease
NF1 (chrom 17)
Gardner's Syndrome
"Familial colorectal polyposis"
Colon polyps
Osteomas of skull
Thyroid cancer
Epidermoid cysts
Fibromas
Sebaceous cysts
Desmoid tumors
(AD)
NF1
Chrom17
2+ neurofibromas or 1plexiform neurofibroma
Freckling of groin or axilla
Café au lait spots (6+, 5 mm in prepubertal, >15 mm in postpubertal)
Skeletal abnormalities (sphenoid dysplasia, ctx thinning of long bones)
Lisch nodules (hamartomas of iris)
Optic glioma
Macrocephaly
Epilepsy
Juvenile posterior lenticular opacicity
NF2
Merlin gene
Chrom 22
10% of NF
Bilateral acoustic neuromas
Wermer Syndrome
MEN I
MENI gene, AD
Parathyroid
Pancreatic
Pituitary
Sipple Syndrome
MEN IIa
RET gene
Parathyroid
Pheo
Medullary thyroid ca
MEN 2b
RET gene
Pheo
Medullary thyroid ca
Neuromas
Cowden's disease
"multiple hamartoma syndrome"
AD, PTEN gene 10q
Hamartomas in various organs
-Skin: Trichilemmomas, Oral papillomatoses
-Breast: FCCs, FAs (**risk of ca)
-Thyroid: adenomas, goiter (follicular ca!)
-Intestinal polyposis
Muir-Torre syndrome
1+ sebaceous skin tumor AND 1+ internal malignancy
(colon ca most common)
Shares features of HNPCC (MLH1, MSH2), defect in MMR leading to MSI
Carney's Triad
Multifocal pulmonary chondroma
GIST
Extra-adrenal paraganglioma
Tuberous Sclerosis
AD; TSC1 gene 9q (hamartin); TSC2 16p (tuberin)
Facial angiofibromas
Hypomelanotic macules
Periungual fibroma
Shagreen patch
Cortical tuber
Subependymal astrocytoma
Retinal hamartomas
Cardiac rhabdomyoma
Lymphangioleiomyomatosis
Renal angiomyolipoma
Peutz Jeghers Syndrome
AD

SCTAT
Hamartomatous polyps GI
Adenoma malignum
Mucocutaneous lesions
Carney complex
AD; chrom 17

myxomas of heart & skin
hyperpigmentation of skin (lentiginosis)
Endocrine overactivity

aka LAMB (lentigines, atrial myxoma, blue nevi) or NAME (nevi, atrial myxoma, myxoid neurofibroma, ephilides) syndrome
Charcot--Marie-Tooth disease
inherited neuropathy
chrom 17
Lynch syndrome
HNPCC
AD
Mutations in DNA MMR
Early cancers of: colon, endometrium, ovary, stomach, small intestine, hepatobiliary, upper urinary, brain, skin

Genes: MSH2, MSH6, MLH1, PMS2
Gorlin syndrome
Aka basal cell carcinoma syndrome

AD

Multiple bcc (periph palisading)
OKC (periph palisading)
Ca of falx cerebri
palmar pits

PTCH gene
Epidermodysplasia verruciformis
Infectious & inherited
Kids

EVER1 & EVER2 mutations
HPV 5&8
Flat warts

Can lead to scc

Hypergranulosis
Distinct purple cytoplasm
Ollier disease
Multiple enchondromas (unilateral)
Maffucci Syndrome
Multiple enchondromas + angiomas
Waterhouse Frederichsen
Adrenal hemorrhage from N. meningitidis
Cushing's Syndrome
Obesity
Moon facies
Hirsutism

(excess cortisol)
Addison's disease
Hypotension
Hyponatremia
Hyperpigmentation

Adrenals not producing. Elevated ACTH, MSH. Low cortisol

#1 cause US: autoimmune / idiopathic
#1 cause ww: TB!
Conn Syndrome
Excess aldosterone
- hypernatremia
- hypokalemia
- metabolic alkalosis
- hypocalcemia

Adrenal hyperplasia
Adrenal Adenoma
Adrenal carcinoma
Congenital adrenal hyperplasia
Deficiency in an enzyme in the steroid production pathway. Many variants.
#1: 21a-OH def: makes lots of testosterone; no cortisol or adlosterone (HYPOtension)

11-OH def: androgens & HYPERtension

17-OH def: rare. Low sex steroids & HTN
Erdheim Chester Disease
Rare histiocytosis of long bones
Infiltration by lipid-laden macrophages

Bilateral symmetric sclerosis medullary cavity with epiphyseal sparing
Hand-Schuller-Christian Disease
Exopthalmos
Lytic bone lesions (LCH)
Diabetes insipidus
Letterer-Siwe Disease
Fatal infant form of LCH

Fever
Anemia
Rash
Hepatosplenomegaly
Pott's Disease
Tb of spine
Nora's lesion
BPOP

Rare
Hands & feet
Rapid growth
Cellular cartilage, bizarre fibroblasts, disorganized
Turcot's Syndrome
Colon polyps
Gliomas
Mazabraud Syndrome
Fibrous dysplasia
Soft tissue myxomas
Hutchison's Syndrome
Pattern of skeletal metastases in neuroblastoma
Pepper's Syndrome
Infants with extensive liver mets in neuroblastoma causing respiratory compromise
Albers-Schonberg Disease
Aka osteopetrosis
Aka marble bone disease

Osteoclast dysfuncton
DiGeorge Syndrome
22q11.2 deletion

Aplastic thymus
- abnormal T cell response (fungal infxn)
Parathyroid agenesis
- hypocalcemia / tetany
Cleft palate
Cardiac defects
Sheehan Syndrome
Pituitary ischemia and necrosis from lood loss during childbirth
Stewart-Treves Syndrome
Postmastectomy lymphangiosarcoma
Plummer Vinson Syndrome
Esophageal webs caused by iron deficiency anemia
Wiskott Aldrich Syndrome
Eczema
Thrombocytopenia
Immunodeficiency

XR
WASp gene
Bruton's agammaglobulinemia
Lack of circulating B cells
(lack CD19, CD20+ cells)

Defective btk enzyme required for B cell maturity
Recurrent infections
tm: lifelong IVIG
XR

BRUTON'S BOYS BCELLS
Cooley's anemia
B thalassemia major
(2 damaged B chains. splenomegaly, severe microcytic anemia. d<20y)
Fanconi anemia
AR, Ashkenazi Jews
Defect in DNA repair
Pancytopenia in childhood
Renal abn
Cafe au lait
MR
short
NO THUMB

increased risk AML, MDS, solid tumors too!
Lesch-Nyhan Syndrome
XR
HGPRT def --> increased purines
Highest uric acid levels
Normal development for 6 mos
ORANGE SAND CRYSTALS IN DIAPER
ALA synthase deficiency
Genetic cause of sideroblastic anemia

(#1 cause of sideroblastic anemia is: EtOH use!)
Absent lymphoid tissue
Adenosine deaminase deficiency
AR
SCID
Severe infections in infants, die < 1y
No lymphoid tissue!
Odorous urine & sweat
Phenylketonuria

Phe-OH-ase def --> MR unless change diet
PALE people - lack melanin precursor
Can do GUTHRIE test at birth
Hexosaminidase A deficiency
Tay Sachs disease
Ashkenazi Jews
Accumulation ganglioside in neurons
Cherry red macular spots
d<4y
Sphingomyelinase deficiency
Niemann Pick Disease (group of diseases)
Sphingomyelin accumulation
80% infantile form (Type A)
Cherry red macular spots (50%)
Hepatosplenomegaly

LARGE FOAMY histiocytes in bone marrow, spleen, LN, adrenal medulla, lungs
B-glucosidase deficiency

HSG in 10-20y.o.
Bone pain
Easy bruising
Gaucher Disease
Glucocerebroside accumulation
80% Type 1 (reticuloendothelial storage form)
Enlarged lipid-laden macrophages
alpha-L-iduronidase deficiency
Hurlers Disease

Heparan sulfate accumulation
Dwarfism
Corneal opacity
MR
Hepatosplenomegaly
Glucose-6-phosphatase deficiency
Hypoglycemia
Hyperlipidemia
Hyperuricemia
Von Gierke's Disease / Type 1 glycogen storage disorder
AR
Can't make glucose!
Massive liver enlargement with PALE CELLS
xanthoma
cirrhosis
Pearson syndrome
Mitochondrial disease

Sideroblastic anemia & exocrine pancreatic dysfunction
Usually die in infancy
POEMS
*Polyneuropathy
Organomegaly
Endocrinopathy
*M-protein
Skin abnormalities
Evans Syndrome
Autoimmune hemolytic anemia & thrombocytopenia
Wiskott-Aldrich Syndrome
Eczema
Thrombocytopenia
Immunodeficiency

Rare, XR
WASp gene
Beckwith-Weidemann syndrome
Macrosomia (big babies)
Macroglossia
Midline abdominal wall defects
Ear pits
Neonatal hypoglycemia
Genetics of Beckwith-Weidemann

What cancers do they get
11p15
Can have uniparental disomy chrom 11

Wilms tumor
Hepatoblastoma
Adrenal cortical carcinoma
Neuroblastoma
Rhabdomyosarcoma

But generally good px - normal size adults with no increased adult cancers
Microdeletion 20p12
JAG1 gene
Alagille Syndrome
**AD**

Bile duct paucity
Tetralogy of Fallot
Broad forehead, deep set eyes, small pointed chin
Tetralogy of Fallot
Pulmonary stenosis
RVH
VSD
Overarching aorta
Williams Syndrome
Happy elf
del portion chrom 7

FTT
MR
Aortic stenosis
Long nose
Low muscle tone
Widely spaced teeth
Potter sequence
Due to oligohydramnios

Clubbed feet
pulmonary hypoplasia
Cranial anomalies
Squished face
Hepatoblastoms is associated with what 2 syndromes?
FAP
Beckwith-Weidemann
WAGR syndrome
Wilms tumor
Aniridia
GU anomalies / Gonadoblastoma
mental Retardation

11p13
Lhermitte-Duclos disease

Pathognomonic for?
Slow-growing tumor / hamartoma of cerebellum (diffuse hypertrophy stratum granulosum)

Cowden syndrome (PTEN gene)
Denys Drash syndrome

gene?
Wilms tumor
Gonadal dysgenesis (pseudohermaphroditism)
Nephropathy (renal failure within 3 y)

WT1 gene chrom 11
Edward Syndrome
Trisomy 18

Rocker bottom feet
Clenched fist
Micrognathia
Patau Syndrome
Trisomy 13

Cleft lip
Polydactyly
Scalp defects
Low set ears
Clenched hands
Cri-du-chat
5p-
Klinefelter Syndrome
47XXY

Tall
Gynecomastia
Infertility
Hyalinization of seminiferous tubules
Turner Syndrome
XO

Cystic hygroma
Web neck
Streak ovaries
Shield chest
Coarctation of aorta
Bicuspid aortic valve
Horsehoe kidney
Infertility
Amenorrhea
Marfan Syndrome

gene?
AD
Tall thin
Pectus excavatum
Lens dislocation
Cystic medial degeneration of heart valves (AORTIC DISSECTION)
Spontaneous PTX

Fibrillin 1 gene, chrom 15
Ehlers-Danlos Syndrome
Most are AD
Defective collagen synthesis (10 types)(Affects Type 1&3 collagen)
Hyperflexibility
Stretchy fragile skin
Easy bruising
AAA
Fragile X syndrome
CGG trinucleotide repeat

elongated face, large or protruding ears, large testes, hand-flapping, and social anxiety
Angelman syndrome

genetics?
"Happy puppet"

Classic example of genomic imprinting:
Deleted maternal copy chrom 15; paternal one is silenced by imprinting
Prader-Willi Syndrome
7 genes are unexpressed on paternal chromosome 15; maternal copy is silenced by imprinting

low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger
Chediak-Higashi
AR
Recurrent pyogenic infections, albinism, neuropathy
Reach lymphoma-like stage triggered by EBV

microtubule polymerization defect
Decreased phagocytosis
Hermansky-Pudlak syndrome
AR

Albinism
Coagulation defects
Ceroid filled histiocytes
PULMONARY FIBROSIS
Fabry disease
XR
Sphingolipidosis
Deficiency alpha- galactosidase A
Accum globotriaosylceramide

Angiokeratomas
Anhidrosis
Body pain
Renal insufficiency
Corneal clouding

CLASSIC ZEBRA BODIES ON EM
Li Fraumeni Syndrome
p53 mutations
AD

Breast ca
Brain ca
Leukemia
Sarcoma
Adrenal ca
TSC1
Mutation hamartin on 9q
Familial > sporadic

Tuberous sclerosis
TSC2
Mutation tuberin on 16q
Sporadic > familial

Tuberous sclerosis
TS
Cortical tubers, Subependymal nodules, white matter
hamartomas, adenoma sebaceum, hypomelanotic macules (80-100%)

Retinal hamartoma, Renal Angiomyolipoma, Cardiac
Rhabdomyoma, Liver hamartoma, Rectal polyps (50%)

Shagreen patch, Forehead plaques, Subungual fibroma, Retinal giant cell tumor, Hypopigmented iris spot (20-40%)

SEGA (5-20%)
Eosinophilic syndromes:

Loeffler syndrome
Well syndrome
Churg Strauss syndrome
Shulman syndrome
Loefller: eosinophilic pna

Well: eosinophilic cellulitis

Churg Strauss: eosinophilic vasculitis

Shulman: eosinophilic fasciitis
Giasbock syndrome
Relative polycythemia in the presence of stress or dehydration
Budd Chiari Syndrome
clinical picture caused by occlusion of the hepatic veins. It presents with the classical triad of abdominal pain, ascites and hepatomegaly.
HEMPAS
"hereditary erythroblastic multinuclearity with positive acidified serum lysis test"

aka
CDA II (Congenital dyserythropoietic anaemia Type II)

Anemia, iron buildup
Tangier disease
AR
abnormal lipid metabolism characterized by low cholesterol, no HDL, no apoA1. TG are normal / increased

Cholesterol ester deposits in tissues
Jaffe-Campanacci syndrome
multifocal nonossifying fibromas and can demonstrate café-au-lait pigmentation, hypogonadism including cryptorchidism, ocular anomalies, cardiovascular malformations, occasional precocious puberty, and kyphoscoliosis. Interestingly, in this disease the skeletal involvement tends to be symmetric.