Random Triads

Carney Triad

  • GIST

  • Pulmonary chondroma

  • Extra-adrenal paraganglioma (pheochromocytoma)

Erdheim-Chester (Non-Langerhans Histiocytosis)

  • Metaphyseal sclerosis

  • Dural mass

  • Hairy kidney

  • Pulmonary cysts

Birt-Hogg-Dube Syndrome

  • Pulmonary cysts (may have pneumothoraces)

  • Bilateral renal tumors - chromophobe RCC

  • Cutaneous lesions - fibrofolliculomas

Danon Disease (X linked lysosomal storage disorder)

  • Heart Failure

  • Skeletal myopathy

  • Mental Retardation

Rigler Triad

  • Pneumobilia

  • Ectopic Gallstone

  • Bowel Obstruction

  • Bouveret Syndrome

    • Gastric obstruction secondary to gallstone

PTEN Related disorders

  • PTEN = tumor suppressor gene

  • Cowden syndrome

  • Lhermitte-Duclos

  • Bannayan-Zonana

Cowden Syndrome

  • Multiple hamartomas throughout body with increased risk of cancer

    • GI tract hamartomas of large and small bowel typically

  • Cerebellar gangliocytoma

  • Mucocutaenous lesions

  • Breast cancer

  • Thyroid cancer

  • Big head with intellectual disability

Bannayan-Zonana Syndrome

  • Macrocephaly

  • Lipomas

  • Hemangiomas

  • Can have other weird facial features (palate, eye issues, others)

  • Autosomal dominant

  • M>F

Lhermitte-Duclos Syndrome

  • Dysplastic cerebellar gangliocytoma

    • Seen in kids = no PTEN mutation

    • In adults = PTEN mutation present

    • Striated/Tiger appearance

    • T1 - hypo

    • T2 - hyper

    • Does not enhance

    • Does not restrict

Random Names Diseases

Buschke-Lowenstein Disease

  • Massive condylomata secondary to HPV

  • Associated with squamous cell carcinoma

Jaffe-Campanacci Syndrome

  • Multiple NOFs

  • Cafe au lait spots

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