ABR Core Exam: Multisystemic Diseases Part 2
Part 2 of my review of selected multisystemic diseases for the ABR Core Exam. A free downloadable study guide summary of these diseases is located on this website under “Study Guides”.
Show Notes:
Gardner’s syndrome: Highest yield fact(s): Familial autosomal dominant GI polyposis, sinus, calvarial, and other MSK osteomas, gastric hamartomas. Other: Osteomas can entrap cranial nerves. Basically 100% risk of malignant transformation of colonic polyps over lifetime. Also associated with small bowel and pancreatic malignancies. Abdominal desmoid tumors.
Osteopoikilosis: Highest yield fact(s): Congenital hereditary condition with multiple bone islands (enostoses). Typically, incidental on imaging as bone is otherwise normal with no symptoms. An MSK don’t touch legion. Admittedly not a multisystemic disease but I put it here as it is easily confused it with other multisystemic diseases (for example pyknodysostosis). Other: low signal on all MRI sequences.
Multicentric reticulohistiocytosis: Highest yield fact(s): Similar radiographically to gout and rheumatoid arthritis. Nodular swelling, distal and symmetric with erosions but no periarticular osteopenia and can have joint space widening. Other: this is a granulomatous disease primarily affecting joint synovial tissues and skin. Associated with breast and ovarian cancer.
Alkaptonuria (ochronosis): Highest yield fact(s): Autosomal recessive. Intervertebral disc calcifications from homogentisic acid deposition in nucleus pulposus. Osteopenia. Other: can have dark urine. Can also have joint space narrowing and chondrocalcinosis/subchondral sclerosis. CPPD can therefore present similarly on imaging but ochronosis is nucleus pulposis calcification and CPPD is annulus fibrosus calcification.
Menke’s syndrome / Kinky hair syndrome: Highest yield fact(s): X-linked recessive copper transport disorder. Kinky hair. Severe CNS involvement with highly tortuous intracranial arteries and brain parenchymal atrophy. Other: weak muscles, loose joints, occipital tendinous calcifications, osteoporosis
Milkman’s syndrome: Highest yield fact(s): Osteomalacia with Looser zone fractures, most common in lateral scapula, ribs, pubic rami, and medial femoral neck. Highest yield fact(s): Note Looser zone stress fractures denote osteomalacia NOT osteoporosis. Other: Can result from many multi-systemic processes including renal osteodystrophy, osteogenesis imperfecta, hyperthyroidism, etc.
Tuberous sclerosis: Highest yield fact(s): Clinical manifestations are cognitive impairment, seizures, and adenoma sebaceum (reddish rash from angiofibromas on face). Radiology findings include cortical/subependymal tubers, subependymal hamartomas and giant cell astrocytomas, renal angiomyolipomas, cardiac rhabdomyomas. Other: White matter abnormalities with radial bands, association with polycystic kidney disease, lymphangioleiomyomatosis, pancreatic neuroendocrine tumors, hypopigmented ash leaf spots on skin, sclerotic bone lesions, MANY other findings. This is a phakomatosis.
