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93 Cards in this Set
- Front
- Back
Birt Hogg Dube Syndrome
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Fibrofolliculomas
Trichodiscomas Acrochordons Pulmonary cysts Chromophobe rcc, oncocytoma |
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Favre Racouchot Syndrome
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Cysts & comedones on sun-damaged skin
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Stewart Treves Syndrome
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Angiosarcoma developing in long-standing lymphedema
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McCune Albright Syndrome
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Endocrine hyperfunction
Polyostotic fibrous dysplasia Unilateral cafe-au-lait spots (AD) |
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Noonan Syndrome
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"Male Turners"
Congenital heart defects Short stature Impaired clotting Webbed neck Pectus excavatum (AD) |
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von Recklinghausen disease
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NF1 (chrom 17)
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Gardner's Syndrome
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"Familial colorectal polyposis"
Colon polyps Osteomas of skull Thyroid cancer Epidermoid cysts Fibromas Sebaceous cysts Desmoid tumors (AD) |
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NF1
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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 |
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NF2
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Merlin gene
Chrom 22 10% of NF Bilateral acoustic neuromas |
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Wermer Syndrome
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MEN I
MENI gene, AD Parathyroid Pancreatic Pituitary |
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Sipple Syndrome
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MEN IIa
RET gene Parathyroid Pheo Medullary thyroid ca |
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MEN 2b
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RET gene
Pheo Medullary thyroid ca Neuromas |
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Cowden's disease
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"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 |
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Muir-Torre syndrome
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1+ sebaceous skin tumor AND 1+ internal malignancy
(colon ca most common) Shares features of HNPCC (MLH1, MSH2), defect in MMR leading to MSI |
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Carney's Triad
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Multifocal pulmonary chondroma
GIST Extra-adrenal paraganglioma |
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Tuberous Sclerosis
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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 |
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Peutz Jeghers Syndrome
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AD
SCTAT Hamartomatous polyps GI Adenoma malignum Mucocutaneous lesions |
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Carney complex
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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 |
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Charcot--Marie-Tooth disease
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inherited neuropathy
chrom 17 |
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Lynch syndrome
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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 |
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Gorlin syndrome
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Aka basal cell carcinoma syndrome
AD Multiple bcc (periph palisading) OKC (periph palisading) Ca of falx cerebri palmar pits PTCH gene |
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Epidermodysplasia verruciformis
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Infectious & inherited
Kids EVER1 & EVER2 mutations HPV 5&8 Flat warts Can lead to scc Hypergranulosis Distinct purple cytoplasm |
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Ollier disease
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Multiple enchondromas (unilateral)
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Maffucci Syndrome
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Multiple enchondromas + angiomas
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Waterhouse Frederichsen
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Adrenal hemorrhage from N. meningitidis
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Cushing's Syndrome
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Obesity
Moon facies Hirsutism (excess cortisol) |
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Addison's disease
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Hypotension
Hyponatremia Hyperpigmentation Adrenals not producing. Elevated ACTH, MSH. Low cortisol #1 cause US: autoimmune / idiopathic #1 cause ww: TB! |
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Conn Syndrome
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Excess aldosterone
- hypernatremia - hypokalemia - metabolic alkalosis - hypocalcemia Adrenal hyperplasia Adrenal Adenoma Adrenal carcinoma |
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Congenital adrenal hyperplasia
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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 |
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Erdheim Chester Disease
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Rare histiocytosis of long bones
Infiltration by lipid-laden macrophages Bilateral symmetric sclerosis medullary cavity with epiphyseal sparing |
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Hand-Schuller-Christian Disease
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Exopthalmos
Lytic bone lesions (LCH) Diabetes insipidus |
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Letterer-Siwe Disease
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Fatal infant form of LCH
Fever Anemia Rash Hepatosplenomegaly |
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Pott's Disease
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Tb of spine
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Nora's lesion
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BPOP
Rare Hands & feet Rapid growth Cellular cartilage, bizarre fibroblasts, disorganized |
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Turcot's Syndrome
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Colon polyps
Gliomas |
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Mazabraud Syndrome
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Fibrous dysplasia
Soft tissue myxomas |
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Hutchison's Syndrome
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Pattern of skeletal metastases in neuroblastoma
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Pepper's Syndrome
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Infants with extensive liver mets in neuroblastoma causing respiratory compromise
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Albers-Schonberg Disease
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Aka osteopetrosis
Aka marble bone disease Osteoclast dysfuncton |
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DiGeorge Syndrome
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22q11.2 deletion
Aplastic thymus - abnormal T cell response (fungal infxn) Parathyroid agenesis - hypocalcemia / tetany Cleft palate Cardiac defects |
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Sheehan Syndrome
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Pituitary ischemia and necrosis from lood loss during childbirth
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Stewart-Treves Syndrome
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Postmastectomy lymphangiosarcoma
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Plummer Vinson Syndrome
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Esophageal webs caused by iron deficiency anemia
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Wiskott Aldrich Syndrome
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Eczema
Thrombocytopenia Immunodeficiency XR WASp gene |
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Bruton's agammaglobulinemia
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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 |
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Cooley's anemia
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B thalassemia major
(2 damaged B chains. splenomegaly, severe microcytic anemia. d<20y) |
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Fanconi anemia
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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! |
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Lesch-Nyhan Syndrome
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XR
HGPRT def --> increased purines Highest uric acid levels Normal development for 6 mos ORANGE SAND CRYSTALS IN DIAPER |
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ALA synthase deficiency
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Genetic cause of sideroblastic anemia
(#1 cause of sideroblastic anemia is: EtOH use!) |
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Absent lymphoid tissue
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Adenosine deaminase deficiency
AR SCID Severe infections in infants, die < 1y No lymphoid tissue! |
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Odorous urine & sweat
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Phenylketonuria
Phe-OH-ase def --> MR unless change diet PALE people - lack melanin precursor Can do GUTHRIE test at birth |
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Hexosaminidase A deficiency
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Tay Sachs disease
Ashkenazi Jews Accumulation ganglioside in neurons Cherry red macular spots d<4y |
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Sphingomyelinase deficiency
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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 |
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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 |
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alpha-L-iduronidase deficiency
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Hurlers Disease
Heparan sulfate accumulation Dwarfism Corneal opacity MR Hepatosplenomegaly |
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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 |
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Pearson syndrome
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Mitochondrial disease
Sideroblastic anemia & exocrine pancreatic dysfunction Usually die in infancy |
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POEMS
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*Polyneuropathy
Organomegaly Endocrinopathy *M-protein Skin abnormalities |
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Evans Syndrome
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Autoimmune hemolytic anemia & thrombocytopenia
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Wiskott-Aldrich Syndrome
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Eczema
Thrombocytopenia Immunodeficiency Rare, XR WASp gene |
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Beckwith-Weidemann syndrome
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Macrosomia (big babies)
Macroglossia Midline abdominal wall defects Ear pits Neonatal hypoglycemia |
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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 |
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Microdeletion 20p12
JAG1 gene |
Alagille Syndrome
**AD** Bile duct paucity Tetralogy of Fallot Broad forehead, deep set eyes, small pointed chin |
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Tetralogy of Fallot
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Pulmonary stenosis
RVH VSD Overarching aorta |
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Williams Syndrome
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Happy elf
del portion chrom 7 FTT MR Aortic stenosis Long nose Low muscle tone Widely spaced teeth |
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Potter sequence
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Due to oligohydramnios
Clubbed feet pulmonary hypoplasia Cranial anomalies Squished face |
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Hepatoblastoms is associated with what 2 syndromes?
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FAP
Beckwith-Weidemann |
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WAGR syndrome
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Wilms tumor
Aniridia GU anomalies / Gonadoblastoma mental Retardation 11p13 |
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Lhermitte-Duclos disease
Pathognomonic for? |
Slow-growing tumor / hamartoma of cerebellum (diffuse hypertrophy stratum granulosum)
Cowden syndrome (PTEN gene) |
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Denys Drash syndrome
gene? |
Wilms tumor
Gonadal dysgenesis (pseudohermaphroditism) Nephropathy (renal failure within 3 y) WT1 gene chrom 11 |
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Edward Syndrome
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Trisomy 18
Rocker bottom feet Clenched fist Micrognathia |
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Patau Syndrome
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Trisomy 13
Cleft lip Polydactyly Scalp defects Low set ears Clenched hands |
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Cri-du-chat
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5p-
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Klinefelter Syndrome
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47XXY
Tall Gynecomastia Infertility Hyalinization of seminiferous tubules |
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Turner Syndrome
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XO
Cystic hygroma Web neck Streak ovaries Shield chest Coarctation of aorta Bicuspid aortic valve Horsehoe kidney Infertility Amenorrhea |
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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 |
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Ehlers-Danlos Syndrome
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Most are AD
Defective collagen synthesis (10 types)(Affects Type 1&3 collagen) Hyperflexibility Stretchy fragile skin Easy bruising AAA |
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Fragile X syndrome
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CGG trinucleotide repeat
elongated face, large or protruding ears, large testes, hand-flapping, and social anxiety |
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Angelman syndrome
genetics? |
"Happy puppet"
Classic example of genomic imprinting: Deleted maternal copy chrom 15; paternal one is silenced by imprinting |
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Prader-Willi Syndrome
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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 |
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Chediak-Higashi
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AR
Recurrent pyogenic infections, albinism, neuropathy Reach lymphoma-like stage triggered by EBV microtubule polymerization defect Decreased phagocytosis |
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Hermansky-Pudlak syndrome
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AR
Albinism Coagulation defects Ceroid filled histiocytes PULMONARY FIBROSIS |
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Fabry disease
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XR
Sphingolipidosis Deficiency alpha- galactosidase A Accum globotriaosylceramide Angiokeratomas Anhidrosis Body pain Renal insufficiency Corneal clouding CLASSIC ZEBRA BODIES ON EM |
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Li Fraumeni Syndrome
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p53 mutations
AD Breast ca Brain ca Leukemia Sarcoma Adrenal ca |
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TSC1
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Mutation hamartin on 9q
Familial > sporadic Tuberous sclerosis |
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TSC2
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Mutation tuberin on 16q
Sporadic > familial Tuberous sclerosis |
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TS
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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%) |
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Eosinophilic syndromes:
Loeffler syndrome Well syndrome Churg Strauss syndrome Shulman syndrome |
Loefller: eosinophilic pna
Well: eosinophilic cellulitis Churg Strauss: eosinophilic vasculitis Shulman: eosinophilic fasciitis |
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Giasbock syndrome
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Relative polycythemia in the presence of stress or dehydration
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Budd Chiari Syndrome
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clinical picture caused by occlusion of the hepatic veins. It presents with the classical triad of abdominal pain, ascites and hepatomegaly.
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HEMPAS
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"hereditary erythroblastic multinuclearity with positive acidified serum lysis test"
aka CDA II (Congenital dyserythropoietic anaemia Type II) Anemia, iron buildup |
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Tangier disease
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AR
abnormal lipid metabolism characterized by low cholesterol, no HDL, no apoA1. TG are normal / increased Cholesterol ester deposits in tissues |
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Jaffe-Campanacci syndrome
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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.
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