Podcast
Questions and Answers
What is the primary goal of treating mastocytosis?
What is the primary goal of treating mastocytosis?
- Increase histamine release
- Prevent mast cell degranulation
- Relieve symptoms caused by mast cell mediators (correct)
- Eliminate mast cells
Which of the following is NOT a common symptom of Hand-Schuller-Christian disease?
Which of the following is NOT a common symptom of Hand-Schuller-Christian disease?
- Petechiae (correct)
- Exophthalmos
- Diabetes insipidus
- Lytic bone lesions
What mutation is primarily linked to prolonged systemic disease in mastocytosis?
What mutation is primarily linked to prolonged systemic disease in mastocytosis?
- c-kit mutation (correct)
- NRAS mutation
- JAK2 mutation
- GNAS mutation
Which variant of histiocytosis presents with widespread red, brown papules that crust over?
Which variant of histiocytosis presents with widespread red, brown papules that crust over?
What are Birbeck granules primarily involved in?
What are Birbeck granules primarily involved in?
How does eosinophilic granuloma typically present?
How does eosinophilic granuloma typically present?
Which treatment option is commonly used for mastocytosis to prevent degranulation of mast cells?
Which treatment option is commonly used for mastocytosis to prevent degranulation of mast cells?
What is a common feature of Letterer-Siwe disease?
What is a common feature of Letterer-Siwe disease?
What characteristic is true of ash leaf macules?
What characteristic is true of ash leaf macules?
Which of the following conditions is associated with multiple ash leaf macules?
Which of the following conditions is associated with multiple ash leaf macules?
What percentage of hemangiomas typically disappear by age 5?
What percentage of hemangiomas typically disappear by age 5?
Which type of hemangioma has a pebbly surface and is typically bright red?
Which type of hemangioma has a pebbly surface and is typically bright red?
Which statement best describes the growth pattern of superficial hemangiomas?
Which statement best describes the growth pattern of superficial hemangiomas?
Which of the following is NOT a characteristic of ash leaf macules?
Which of the following is NOT a characteristic of ash leaf macules?
Hemangiomas are more common in which of the following groups?
Hemangiomas are more common in which of the following groups?
What is a distinguishing feature of plaque-type hemangiomas?
What is a distinguishing feature of plaque-type hemangiomas?
What is the most common age group for impetigo to occur?
What is the most common age group for impetigo to occur?
What characteristic of impetigo lesions can help differentiate it from herpes simplex infections?
What characteristic of impetigo lesions can help differentiate it from herpes simplex infections?
What is the primary cause of typical impetigo?
What is the primary cause of typical impetigo?
What type of impetigo is characterized by blister formation due to exfoliative toxin?
What type of impetigo is characterized by blister formation due to exfoliative toxin?
What should be done immediately when impetigo is suspected?
What should be done immediately when impetigo is suspected?
Which of the following is true regarding café-au-lait macules?
Which of the following is true regarding café-au-lait macules?
Which treatment is used for mild cases of impetigo?
Which treatment is used for mild cases of impetigo?
What can happen if desmoglein type 1 protein is cleaved by the exfoliative toxin in bullous impetigo?
What can happen if desmoglein type 1 protein is cleaved by the exfoliative toxin in bullous impetigo?
What is the general treatment for superficial hemangiomas that commonly ulcerate?
What is the general treatment for superficial hemangiomas that commonly ulcerate?
Which of the following accurately describes urticaria pigmentosa?
Which of the following accurately describes urticaria pigmentosa?
What type of hemangioma is more likely to require treatment due to its location?
What type of hemangioma is more likely to require treatment due to its location?
What is a common presentation of a solitary mastocytoma?
What is a common presentation of a solitary mastocytoma?
What recent treatment has shown promise for hemangiomas?
What recent treatment has shown promise for hemangiomas?
Which mechanism is most well described in the context of excessive mast cell proliferation?
Which mechanism is most well described in the context of excessive mast cell proliferation?
What is the main distinguishing factor between solitary mastocytoma and urticaria pigmentosa?
What is the main distinguishing factor between solitary mastocytoma and urticaria pigmentosa?
What symptom is associated with rubbing a mastocytoma?
What symptom is associated with rubbing a mastocytoma?
Flashcards
Impetigo
Impetigo
A common bacterial skin infection, often seen in young children, presenting with sticky, honey-colored crusts and typically affecting the face.
Bullous Impetigo
Bullous Impetigo
A type of impetigo characterized by large blisters, often caused by Staphylococcus aureus strains producing exfoliative toxins.
Exfoliative Toxin
Exfoliative Toxin
A toxin produced by certain bacteria like Staphylococcus aureus, causing breakdown of cell-to-cell adhesion in the skin's upper layer.
Desmoglein Type 1
Desmoglein Type 1
A protein found in desmosomes, which are structures responsible for holding skin cells together.
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Café-au-lait Macule
Café-au-lait Macule
Flat, sharply bordered brown skin patches, often present at birth or developing in early childhood.
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Neurofibromatosis
Neurofibromatosis
A genetic condition characterized by excessive growth of nerve tissue, often accompanied by café-au-lait macules and other skin lesions.
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Five or More Café-au-lait Macules
Five or More Café-au-lait Macules
The presence of five or more café-au-lait macules greater than 5 millimeters in diameter.
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Evaluation for Neurofibromatosis
Evaluation for Neurofibromatosis
When the presence of café-au-lait macules raises concerns about neurofibromatosis, a thorough evaluation should be conducted.
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What is an Ash Leaf Macule?
What is an Ash Leaf Macule?
A white, flat, oval-shaped mark on the skin, usually measuring 1-3 cm in diameter. They are often present at birth but may develop within the first two years of life.
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What is tuberous sclerosis?
What is tuberous sclerosis?
A rare skin condition characterized by the presence of multiple ash leaf macules, seizures, and developmental delays.
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What is a hemangioma?
What is a hemangioma?
A common benign tumor of blood vessels that often grows rapidly in infancy before slowly shrinking until it disappears. They can occur on the skin, mucous membranes, and internal organs.
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What is a superficial hemangioma?
What is a superficial hemangioma?
Bright red, raised bumps on the skin with a pebbly surface. They grow rapidly for a year and then gradually shrink and disappear.
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What are deep hemangiomas?
What are deep hemangiomas?
A type of hemangioma that is usually bluish in color and can be difficult to distinguish from surrounding skin. They are located deeper in the skin.
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What is a mixed hemangioma?
What is a mixed hemangioma?
A hemangioma that has both a superficial and deep component, appearing as a combination of raised red bumps and a bluish base.
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What is a plaque type hemangioma?
What is a plaque type hemangioma?
A type of superficial hemangioma that is flat and slightly raised, often covering a large area. They are frequently linked to other birth defects.
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What is ulceration in hemangiomas?
What is ulceration in hemangiomas?
The process of a hemangioma becoming ulcerated, commonly occurring due to rapid growth.
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Hemangioma
Hemangioma
A benign, vascular tumor that usually fades with time, but can cause problems if located near vital structures.
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Propranolol
Propranolol
A common treatment for hemangiomas that can accelerate their disappearance.
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Hemangioma Ulceration
Hemangioma Ulceration
Inflammation and potential infection of superficial hemangiomas, often causing pain.
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Mastocytosis
Mastocytosis
A rare disease characterized by an abnormal proliferation of mast cells.
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Urticaria Pigmentosa
Urticaria Pigmentosa
The most common form of cutaneous mastocytosis, featuring multiple brown-yellow papules that often exhibit Darier's sign.
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Darier's Sign
Darier's Sign
The hallmark of mastocytosis, where rubbing a papule causes a red hive-like reaction.
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c-kit mutation
c-kit mutation
A genetic mutation in the KIT gene that leads to the uncontrolled growth and survival of mast cells.
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Systemic Mastocytosis
Systemic Mastocytosis
A rare, systemic form of mastocytosis where mast cells invade multiple organs, potentially leading to associated conditions.
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c-kit Gene
c-kit Gene
A gene encoding the KIT protein, a tyrosine kinase receptor, implicated in the abnormal proliferation of mast cells in mastocytosis.
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Letterer-Siwe disease
Letterer-Siwe disease
A type of histiocytosis that typically affects infants and presents with skin lesions, enlarged organs, and systemic involvement.
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Hand-Schuller-Christian disease
Hand-Schuller-Christian disease
A type of histiocytosis that presents with diabetes insipidus, exophthalmos, and bone lesions.
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Eosinophilic granuloma
Eosinophilic granuloma
A type of histiocytosis that presents as a single, localized bone lesion.
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Hashimoto-Pritzker disease
Hashimoto-Pritzker disease
A type of histiocytosis that affects newborns and presents with widespread skin papules and nodules that heal spontaneously.
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Langerhans cells
Langerhans cells
Specialized cells within the immune system that act as antigen-presenting cells, normally found in the skin.
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Impetigo
- Impetigo is a common skin infection, typically affecting young children.
- Characterized by superficial ulcers with honey-colored crusting, often on the face.
- Can sometimes resemble herpes simplex, requiring a culture for accurate diagnosis.
- Bullous impetigo presents as blisters at the site of infection, caused by a specific toxin.
- Treatment usually involves topical antibiotics (e.g., mupirocin) for mild cases and oral antibiotics (e.g., dicloxacillin, cephalexin) for more severe cases, including Staph Scalded Skin Syndrome.
- Bacterial culture is recommended but treatment should begin prior to results.
Café-au-Lait Macules
- Common, usually harmless, flat, brown spots.
- More frequent in African-Americans.
- Can appear at birth or develop during childhood.
- Five or more macules over 5mm in diameter in a patient should prompt evaluation for neurofibromatosis.
- Infants with one or two macules are not at increased risk for neurofibromatosis.
- Treatment is not typically needed.
Ash Leaf Macules
- Uncommon, flat, white spots, typically oval-shaped.
- Usually present at birth or develop within the first two years of life.
- Measure 1-3 cm in diameter.
- May be a manifestation of tuberous sclerosis.
- Evaluation for tuberous sclerosis is warranted if multiple ash leaf macules or other associated symptoms are present.
- No specific treatment is needed, primarily a need for observation.
Hemangioma
- Common childhood vascular tumor.
- Typically appears within the first few weeks of life.
- More common in females and premature infants.
- Two main types: superficial (red, pebbly, typically resolves by age 9) and deep (bluish, difficult to delineate borders).
- Mixed hemangiomas are combinations of both types.
- Most hemangiomas resolve spontaneously.
- Treatment may be considered for hemangiomas located near critical structures or causing significant problems.
- Methods may include intralesional steroids, systemic steroids, or propranolol.
Mastocytosis
- Uncommon disorder, frequently presenting in children.
- Characterized by excessive mast cell proliferation.
- Two main forms: solitary mastocytomas (single lesion) and urticaria pigmentosa (multiple lesions).
- Lesions appear as brown-yellow papules or nodules.
- Diagnosis often confirmed by Darier's sign (hive-like reaction when the lesion is rubbed).
- Treatment typically focuses on symptom relief using antihistamines and avoiding mast cell degranulators (like alcohol and opioids).
Histiocytosis
- Rare but serious group of disorders.
- Characterized by proliferation of abnormal histiocytes.
- Can present at birth or later in childhood.
- Several forms exist, including Letterer-Siwe disease, Hand-Schuller-Christian disease, eosinophilic granuloma, and Hashimoto-Pritzker disease.
- Letterer-Siwe disease is often characterized by skin lesions, bone involvement, and systemic symptoms, presenting early in life.
- Treatment varies depending on the specific type and extent of disease, and may range from topical therapy to chemotherapy.
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