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Questions and Answers
Which vitamin deficiency leads to inadequate collagen synthesis?
Which vitamin deficiency leads to inadequate collagen synthesis?
What is the urinary level range indicating vitamin C deficiency?
What is the urinary level range indicating vitamin C deficiency?
What are the late features of scurvy?
What are the late features of scurvy?
Which vitamin deficiency can lead to blindness?
Which vitamin deficiency can lead to blindness?
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What is the most commonly seen vitamin deficiency in children with chronic cholestatic liver disease?
What is the most commonly seen vitamin deficiency in children with chronic cholestatic liver disease?
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Which vitamin deficiency leads to inadequate synthesis of prothrombin and clotting factors?
Which vitamin deficiency leads to inadequate synthesis of prothrombin and clotting factors?
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What is the function of parathyroid hormone (PTH)?
What is the function of parathyroid hormone (PTH)?
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What are the characteristic bone lesions associated with hyperparathyroidism?
What are the characteristic bone lesions associated with hyperparathyroidism?
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What is the primary cause of hyperparathyroidism?
What is the primary cause of hyperparathyroidism?
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What are the potential consequences of hyperparathyroidism?
What are the potential consequences of hyperparathyroidism?
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What is the role of PTH in hyperparathyroidism?
What is the role of PTH in hyperparathyroidism?
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What distinguishes primary hyperparathyroidism from secondary hyperparathyroidism?
What distinguishes primary hyperparathyroidism from secondary hyperparathyroidism?
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Which Hodgkin lymphoma histologic subtype is the most common?
Which Hodgkin lymphoma histologic subtype is the most common?
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Which gene mutation causes Lipoid proteinosis?
Which gene mutation causes Lipoid proteinosis?
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What is the typical cause of acromegaly in adults?
What is the typical cause of acromegaly in adults?
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What is the most common oral hematologic malignancy?
What is the most common oral hematologic malignancy?
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What age group is diffuse large B-cell lymphoma most common in?
What age group is diffuse large B-cell lymphoma most common in?
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What imaging technique is involved in the diagnosis of acromegaly?
What imaging technique is involved in the diagnosis of acromegaly?
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What are the two main types of leukemia mentioned in the text?
What are the two main types of leukemia mentioned in the text?
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Which leukemia is characterized by the BCR-ABL gene translocation?
Which leukemia is characterized by the BCR-ABL gene translocation?
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What is the most common pediatric cancer mentioned in the text?
What is the most common pediatric cancer mentioned in the text?
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Which oral manifestation is associated with leukemia?
Which oral manifestation is associated with leukemia?
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What are the symptoms associated with plasma cell neoplasms like multiple myeloma?
What are the symptoms associated with plasma cell neoplasms like multiple myeloma?
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What is the peak incidence age range for Langerhans cell histiocytosis?
What is the peak incidence age range for Langerhans cell histiocytosis?
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Which genetic disorder is characterized by noncancerous growths and an increased risk of breast, thyroid, and endometrial cancer, often manifesting with multiple oral papillomatous papules?
Which genetic disorder is characterized by noncancerous growths and an increased risk of breast, thyroid, and endometrial cancer, often manifesting with multiple oral papillomatous papules?
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Which rare genetic disorder affecting bone and teeth development is caused by mutations in the TNSALP gene and can present with premature exfoliation of deciduous teeth?
Which rare genetic disorder affecting bone and teeth development is caused by mutations in the TNSALP gene and can present with premature exfoliation of deciduous teeth?
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Which autoimmune disorder is characterized by hyperthyroidism, goiter, exophthalmos, pretibial dermatopathy, and clubbing, and can be treated with teprotumumab, an IGF-IR inhibitor?
Which autoimmune disorder is characterized by hyperthyroidism, goiter, exophthalmos, pretibial dermatopathy, and clubbing, and can be treated with teprotumumab, an IGF-IR inhibitor?
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Which rare pustular eruption in the mouth is associated with inflammatory bowel diseases like ulcerative colitis and Crohn's disease?
Which rare pustular eruption in the mouth is associated with inflammatory bowel diseases like ulcerative colitis and Crohn's disease?
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Which autosomal dominant condition is characterized by hamartomatous polyps in the GI tract and increased cancer risks, often with dark macules around the mouth, eyes, and nostrils?
Which autosomal dominant condition is characterized by hamartomatous polyps in the GI tract and increased cancer risks, often with dark macules around the mouth, eyes, and nostrils?
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Which rare genetic disorder affecting bone and teeth development is commonly associated with the PHEX gene and can lead to delayed tooth eruption and enlarged pulp horns, increasing endodontic problems?
Which rare genetic disorder affecting bone and teeth development is commonly associated with the PHEX gene and can lead to delayed tooth eruption and enlarged pulp horns, increasing endodontic problems?
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Study Notes
Rare Genetic Disorders with Oral Manifestations
- Hyperparathyroidism can be primary or secondary, with causes including severe calcium or vitamin D deficiency, chronic kidney failure, and hereditary states like MEN type 1 and 2A.
- Cowden syndrome is characterized by noncancerous growths and an increased risk of cancers such as breast, thyroid, and endometrial cancer, often manifesting with multiple oral papillomatous papules.
- PTEN hamartoma tumor syndrome spectrum includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome, associated with mutations in the PTEN gene and increased cancer risks.
- Pyostomatitis vegetans is a rare pustular eruption in the mouth associated with inflammatory bowel diseases like ulcerative colitis and Crohn's disease.
- Addison disease, characterized by aldosterone and cortisol deficiency, presents with hypotension, metabolic acidosis, and hyperpigmentation due to increased MSH production from ↑ACTH.
- Peutz-Jeghers syndrome, an autosomal dominant condition, is characterized by hamartomatous polyps in the GI tract and increased cancer risks, often with dark macules around the mouth, eyes, and nostrils.
- Hypophosphatasia is a rare genetic disorder affecting bone and teeth development, caused by mutations in the TNSALP gene, and can present with premature exfoliation of deciduous teeth.
- Hypothyroidism can manifest as cretinism or myxedema and may result in delayed tooth eruption and hypoplasia or agenesis in the USA due to decreased iodine.
- Graves' disease, an autoimmune disorder, is characterized by hyperthyroidism, goiter, exophthalmos, pretibial dermatopathy, and clubbing, and can be treated with teprotumumab, an IGF-IR inhibitor.
- Vitamin D-resistant rickets, commonly associated with the PHEX gene, can lead to delayed tooth eruption and enlarged pulp horns, increasing endodontic problems.
- Oral manifestations of hypothyroidism include delayed tooth eruption, hypoplasia or agenesis in the USA, and may be associated with Hashimoto thyroiditis.
- Oral melanotic pigmentations can be associated with Addison disease, characterized by hyperpigmentation due to increased MSH production from ↑ACTH.
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Description
Test your knowledge of rare genetic disorders with oral manifestations in this quiz. Explore conditions such as Cowden syndrome, Peutz-Jeghers syndrome, and hypophosphatasia, and their unique impact on oral health.
