Pencil Villain Shared "Polyposis Syndromes: By Pro-Creator Carlos Velez" - 4 Picmonics

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Polyposis Syndromes: By Pro-Creator Carlos Velez

Gardner Syndrome
Pathophysiology
Familial Adenomatous Polyposis (FAP) with Extraintestinal Benign Growths
Autosomal Dominant
APC Gene Mutation
Extraintestinal and Benign Manifestations
Desmoid Tumors
Nasal Angiofibromas
Osteomas
Congenital Hypertrophy of Retinal Pigment Epithelium (CHRPE)
Dental Abnormalities
Cutaneous Lesions
Adrenal Adenomas
Associated Malignancies
Thyroid Cancer
Duodenum/Periampullary Cancer
Pancreatic Cancer
Hepatoblastoma
Familial Adenomatous Polyposis (FAP)
Pathophysiology
Autosomal Dominant
Mutation on Chromosome 5
APC Tumor Suppressor Gene Mutation
Overexpression of β-catenin
Two-Hit Hypothesis
manifestations
Postpubertal Appearance of Thousands of Polyps
Always Involves Rectum
Pancolonic
Associations
Hepatoblastoma
Most Patients Develop Colorectal Carcinoma (CRC) by 40 years of age
Interventions
Prophylactic Colectomy
3 mins
Turcot Syndrome
Pathophysiology
Autosomal Dominant or Autosomal Recessive
Colonic Polyposis and a Malignant Central Nervous System Tumor
Associations
Increased Risk of Colorectal Cancer
Increased Risk of Brain Cancer
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
Glioblastoma Multiforme
Familial Adenomatous Polyposis (FAP)
Medulloblastoma
3 mins
Juvenile Polyposis Syndrome
PATHOPHYSIOLOGY
Autosomal Dominant
Children < 5 Years Old
manifestations
Hamartomatous Polyps
Found in the Stomach, Small Intestine and Colon
Large Number Increases Risk of Colorectal Carcinoma
2 mins

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