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Questions and Answers
What are the diagnostic criteria for Neurofibromatosis (NF1)?
What are the diagnostic criteria for Neurofibromatosis (NF1)?
2 or more of the following 7 criteria: ≥ 6 café-au-lait spots 1,5 cm or larger in post-pubertal individuals, 0,5 cm or larger in pre-pubertal individuals and more than 1.5 cm postpubertal; ≥ 2 neurofibromas of any type or ≥ 1 plexiform neurofibroma; Freckling in the axilla or groin; Optic glioma; ≥2 Lisch nodules; Distinctive bony lesion: dyplasia of the sphenoid bone or dysplasia or thinning of long bone cortex; A first-degree relative with NF1.
What is Paget's disease?
What is Paget's disease?
Paget's disease of bone (osteitis deformans) is a condition involving cellular remodeling and deformity of one or more bones.
What are the microscopic level changes seen in Paget's disease?
What are the microscopic level changes seen in Paget's disease?
Excessive bone breakdown and subsequent disorganized new bone formation.
What can the structural changes in Paget's disease cause?
What can the structural changes in Paget's disease cause?
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Is Pheochromocytoma a diagnostic criteria for Neurofibromatosis (NF1)?
Is Pheochromocytoma a diagnostic criteria for Neurofibromatosis (NF1)?
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Study Notes
Neurofibromatosis (NF1)
- Diagnostic criteria for NF1 are not explicitly defined, but it is characterized by the presence of two or more of the following: café-au-lait macules, neurofibromas, axillary or inguinal freckling, optic glioma, and a family history of NF1.
Paget's Disease
- Paget's disease is a chronic bone disorder characterized by abnormal bone remodeling, leading to bone deformity and weakness.
Microscopic Changes in Paget's Disease
- At the microscopic level, Paget's disease is characterized by an increase in the number and activity of osteoclasts, leading to excessive bone resorption, and an subsequent increase in osteoblastic activity to repair the damaged bone.
Structural Changes in Paget's Disease
- The structural changes in Paget's disease can cause bone deformity, pain, and increased risk of fractures, as well as other complications such as hearing loss, nerve damage, and increased risk of osteoarthritis.
Pheochromocytoma and Neurofibromatosis (NF1)
- Pheochromocytoma, a rare tumor of the adrenal gland, is not a diagnostic criteria for Neurofibromatosis (NF1), but it is a common complication of NF1, occurring in up to 3% of NF1 patients.
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Description
Test your knowledge on Neurofibromatosis (NF1) with this quiz! Learn about the diagnostic criteria including café-au-lait spots, neurofibromas, freckling, optic glioma, Lisch nodules, and more. Challenge yourself and improve your understanding of this genetic condition.
