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Questions and Answers
What is the treatment of choice for lipoid proteinosis causing hoarseness of voice?
What is the treatment of choice for lipoid proteinosis causing hoarseness of voice?
What genetic mutation is associated with Legius syndrome, which presents without tumors, freckles, lipoma, macrocephaly, and ADHD?
What genetic mutation is associated with Legius syndrome, which presents without tumors, freckles, lipoma, macrocephaly, and ADHD?
In a case of severe itchy macular hyperpigmentation on the back (macular amyloidosis), what investigation would be most appropriate?
In a case of severe itchy macular hyperpigmentation on the back (macular amyloidosis), what investigation would be most appropriate?
What would be the next step for a patient suspected of systemic amyloidosis?
What would be the next step for a patient suspected of systemic amyloidosis?
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What is the next step for a female patient with macular amyloidosis?
What is the next step for a female patient with macular amyloidosis?
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In a pediatric patient with erythema and bone pain, histological findings of epithelioid granuloma and few lymphocytes point to a gene defect associated with which syndrome?
In a pediatric patient with erythema and bone pain, histological findings of epithelioid granuloma and few lymphocytes point to a gene defect associated with which syndrome?
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What gene defect is associated with Fabry's disease?
What gene defect is associated with Fabry's disease?
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A male patient with an erythematous rash and bone pain should have a bone x-ray performed on which site if the skull or cranium is not present?
A male patient with an erythematous rash and bone pain should have a bone x-ray performed on which site if the skull or cranium is not present?
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What is the most common association of macular amyloidosis?
What is the most common association of macular amyloidosis?
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What mutation is responsible for causing Langerhans cell histiocytosis?
What mutation is responsible for causing Langerhans cell histiocytosis?
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In a patient with cutaneous amyloidosis, what organ association is commonly seen?
In a patient with cutaneous amyloidosis, what organ association is commonly seen?
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(Tubers xanthoma) bilateral nodules on the Achilles tendon are typically associated with an elevation in which investigation?
(Tubers xanthoma) bilateral nodules on the Achilles tendon are typically associated with an elevation in which investigation?
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(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
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In a patient with neurofibromatosis, what association is commonly seen?
In a patient with neurofibromatosis, what association is commonly seen?
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In a case of Wilson's disease, what would you expect to find in the epidermis?
In a case of Wilson's disease, what would you expect to find in the epidermis?
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In a patient with Wilson's disease, what would you expect to find in the epidermis?
In a patient with Wilson's disease, what would you expect to find in the epidermis?
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In a case of severe itchy macular hyperpigmentation on the back (macular amyloidosis), what investigation would be most appropriate?
In a case of severe itchy macular hyperpigmentation on the back (macular amyloidosis), what investigation would be most appropriate?
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A male patient with an erythematous rash and bone pain should have a bone x-ray performed on which site if the skull or cranium is not present?
A male patient with an erythematous rash and bone pain should have a bone x-ray performed on which site if the skull or cranium is not present?
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In a patient with cutaneous amyloidosis, what organ association is commonly seen?
In a patient with cutaneous amyloidosis, what organ association is commonly seen?
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(Tubers xanthoma) bilateral nodules on the Achilles tendon are typically associated with an elevation in which investigation?
(Tubers xanthoma) bilateral nodules on the Achilles tendon are typically associated with an elevation in which investigation?
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(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
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In a case of Wilson's disease, what will you expect to find in the epidermis?
In a case of Wilson's disease, what will you expect to find in the epidermis?
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In a pediatric patient with erythema and bone pain, histological findings of epithelioid granuloma and few lymphocytes point to a gene defect associated with which syndrome?
In a pediatric patient with erythema and bone pain, histological findings of epithelioid granuloma and few lymphocytes point to a gene defect associated with which syndrome?
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A female patient with macular amyloidosis would most likely require what investigation next?
A female patient with macular amyloidosis would most likely require what investigation next?
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A child with porphyria would most likely benefit from which treatment approach?
A child with porphyria would most likely benefit from which treatment approach?
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A patient with skin-colored papules and elastic skin on the neck and angoid streaks on retina should consider taking which action next?
A patient with skin-colored papules and elastic skin on the neck and angoid streaks on retina should consider taking which action next?
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What investigation would be most appropriate for a patient with sever itchy macular hyperpigmentation on the back (macular amyloidosis)?
What investigation would be most appropriate for a patient with sever itchy macular hyperpigmentation on the back (macular amyloidosis)?
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For a 10-year-old child with normal findings but scars on knuckles, which porphyria investigation would be expected to be positive and which negative?
For a 10-year-old child with normal findings but scars on knuckles, which porphyria investigation would be expected to be positive and which negative?
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In a case of severe itchy macular hyperpigmentation on the back (macular amyloidosis), what would be the most appropriate association?
In a case of severe itchy macular hyperpigmentation on the back (macular amyloidosis), what would be the most appropriate association?
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In a case of lipoid proteinosis causing hoarseness of voice, what is the most appropriate treatment?
In a case of lipoid proteinosis causing hoarseness of voice, what is the most appropriate treatment?
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In a patient with neurofibromatosis, what association is commonly seen?
In a patient with neurofibromatosis, what association is commonly seen?
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What association would be commonly found in a patient with Legius syndrome caused by SPRED1 gene?
What association would be commonly found in a patient with Legius syndrome caused by SPRED1 gene?
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Which investigation is typically elevated in a patient with tuberous xanthoma (bilateral nodules on the Achilles tendon)?
Which investigation is typically elevated in a patient with tuberous xanthoma (bilateral nodules on the Achilles tendon)?
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(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
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In a patient with cutaneous amyloidosis, what organ association is commonly seen?
In a patient with cutaneous amyloidosis, what organ association is commonly seen?
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What would be the next step for a patient suspected of systemic amyloidosis?
What would be the next step for a patient suspected of systemic amyloidosis?
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A male patient with an erythematous rash and bone pain should have a bone x-ray performed on which site if the skull or cranium is not present?
A male patient with an erythematous rash and bone pain should have a bone x-ray performed on which site if the skull or cranium is not present?
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What genetic mutation is associated with Legius syndrome, which presents without tumors, freckles, lipoma, macrocephaly, and ADHD?
What genetic mutation is associated with Legius syndrome, which presents without tumors, freckles, lipoma, macrocephaly, and ADHD?
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Which gene defect is associated with Legius syndrome, presenting without tumors, freckles, lipoma, macrocephaly, and ADHD?
Which gene defect is associated with Legius syndrome, presenting without tumors, freckles, lipoma, macrocephaly, and ADHD?
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In a case of lipoid proteinosis causing hoarseness of voice, what is the most appropriate treatment?
In a case of lipoid proteinosis causing hoarseness of voice, what is the most appropriate treatment?
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What investigation would be most appropriate for a patient with severe itchy macular hyperpigmentation on the back (macular amyloidosis)?
What investigation would be most appropriate for a patient with severe itchy macular hyperpigmentation on the back (macular amyloidosis)?
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In a patient with generalized hyperpigmentation, hepatomegaly, and diabetes, what association would be expected?
In a patient with generalized hyperpigmentation, hepatomegaly, and diabetes, what association would be expected?
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Which investigation would be most appropriate for a 10-year-old child with normal findings but scars on knuckles, to differentiate between porphyria types?
Which investigation would be most appropriate for a 10-year-old child with normal findings but scars on knuckles, to differentiate between porphyria types?
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(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
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What is the next most appropriate step for a female patient with macular amyloidosis?
What is the next most appropriate step for a female patient with macular amyloidosis?
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In a case of juvenile xanthogranuloma, what would be the next most appropriate step?
In a case of juvenile xanthogranuloma, what would be the next most appropriate step?
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For a 40-year-old female with generalized purpuric eruption and sole ulcer, what would be the most appropriate treatment?
For a 40-year-old female with generalized purpuric eruption and sole ulcer, what would be the most appropriate treatment?
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What should be monitored during treatment for mastocytosis aggravated by a drug?
What should be monitored during treatment for mastocytosis aggravated by a drug?
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In a patient with skin-colored papules, elastic skin on the neck, and angoid streaks on the retina, what action is most appropriate?
In a patient with skin-colored papules, elastic skin on the neck, and angoid streaks on the retina, what action is most appropriate?
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What is the best investigation to order for a patient with perforating disease, consistent clinical features, and renal failure?
What is the best investigation to order for a patient with perforating disease, consistent clinical features, and renal failure?
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What investigation is needed for a patient with nodules on the olecranon ligament?
What investigation is needed for a patient with nodules on the olecranon ligament?
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What is the treatment of choice for end-stage renal disease with perforating disease?
What is the treatment of choice for end-stage renal disease with perforating disease?
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A 3-month-old child presents with vomiting and brown lesions, and an X-ray shows osteolytic lesions. What is the most appropriate treatment?
A 3-month-old child presents with vomiting and brown lesions, and an X-ray shows osteolytic lesions. What is the most appropriate treatment?
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What is the most appropriate treatment for an infant with low weight and multiple brown lesions with X-ray findings of osteolytic lesions?
What is the most appropriate treatment for an infant with low weight and multiple brown lesions with X-ray findings of osteolytic lesions?
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In a patient with lipoid proteinosis causing hoarseness of voice, which treatment should be avoided due to the potential severity of adverse reactions?
In a patient with lipoid proteinosis causing hoarseness of voice, which treatment should be avoided due to the potential severity of adverse reactions?
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In a case of generalized hyperpigmentation, hepatomegaly, and diabetes, what association would be expected?
In a case of generalized hyperpigmentation, hepatomegaly, and diabetes, what association would be expected?
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What investigation is most appropriate for a 10-year-old child with normal findings but scars on knuckles?
What investigation is most appropriate for a 10-year-old child with normal findings but scars on knuckles?
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In a case of macular amyloidosis, what investigation would be most appropriate?
In a case of macular amyloidosis, what investigation would be most appropriate?
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Which gene defect is associated with Legius syndrome, presenting without tumors, freckles, lipoma, macrocephaly, and ADHD?
Which gene defect is associated with Legius syndrome, presenting without tumors, freckles, lipoma, macrocephaly, and ADHD?
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What is the next most appropriate step for a patient suspected of systemic amyloidosis?
What is the next most appropriate step for a patient suspected of systemic amyloidosis?
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What is the next most appropriate step for a female patient with macular amyloidosis?
What is the next most appropriate step for a female patient with macular amyloidosis?
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In a case of Langerhans cell histiocytosis, which investigation would be needed if the skull or cranium is not present?
In a case of Langerhans cell histiocytosis, which investigation would be needed if the skull or cranium is not present?
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In a patient with nodules on the olecranon ligament, what investigation would be most appropriate?
In a patient with nodules on the olecranon ligament, what investigation would be most appropriate?
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In a patient with vesicular eruption on hand, arm, and face, with no inflammatory infiltrate in the histopathology, what would be the most appropriate treatment?
In a patient with vesicular eruption on hand, arm, and face, with no inflammatory infiltrate in the histopathology, what would be the most appropriate treatment?
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In a case of Hypothesia and hypohydrosis, which investigation would be most appropriate?
In a case of Hypothesia and hypohydrosis, which investigation would be most appropriate?
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In a case of scleromyxoedema with waxy papules on the face and upper back, what would be the most appropriate treatment?
In a case of scleromyxoedema with waxy papules on the face and upper back, what would be the most appropriate treatment?
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In an infant with low weight and multiple brown lesions, which treatment is most appropriate if X-ray findings show osteolytic lesions?
In an infant with low weight and multiple brown lesions, which treatment is most appropriate if X-ray findings show osteolytic lesions?
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(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?
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In a pediatric patient with erythema and bone pain, histological findings of epithelioid granuloma and few lymphocytes point to a gene defect associated with which syndrome?
In a pediatric patient with erythema and bone pain, histological findings of epithelioid granuloma and few lymphocytes point to a gene defect associated with which syndrome?
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In a patient with skin-colored papules, elastic skin on the neck, and angoid streaks on retina, what action is most appropriate?
In a patient with skin-colored papules, elastic skin on the neck, and angoid streaks on retina, what action is most appropriate?
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Study Notes
Lipoid Proteinosis
- Treatment of choice for hoarseness of voice: Voice therapy
- Avoid corticosteroids due to potential severe adverse reactions
Legius Syndrome
- SPRED1 gene defect is associated with Legius syndrome without tumors, freckles, lipoma, macrocephaly, and ADHD
Macular Amyloidosis
- Most appropriate investigation: Skin biopsy
- Next step for suspected systemic amyloidosis: Further investigations like echocardiogram, bone marrow biopsy, and renal function tests
- Next step for female patients: Genetic testing for mutations in the FGA gene
Systemic Amyloidosis
- Next step for suspected systemic amyloidosis: Further investigations like echocardiogram, bone marrow biopsy, and renal function tests
Pediatric Erythema & Bone Pain
- Histological findings of epithelioid granuloma and few lymphocytes suggest Birbeck granule deficiency associated with Chediak-Higashi syndrome
Fabry's Disease
- Gene defect associated with Fabry's disease: α-galactosidase A deficiency
Erythematous Rash & Bone Pain
- Bone x-ray for a male patient with erythematous rash and bone pain should be performed on the long bones if skull or cranium is not present.
Cutaneous Amyloidosis
- Common organ association: Renal involvement
Tubers Xanthoma
- Bilateral nodules on Achilles tendon are typically associated with elevated lipid levels
Angiokeratoma
- Hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis point to a defect in α-galactosidase A enzyme
Neurofibromatosis
- Common association: Lisch nodules on the iris
Wilson's Disease
- Expected finding in the epidermis: Increased melanin deposition
Porphyria
- Treatment for a child with porphyria: Avoidance of sunlight and photoprotective measures
Skin-Colored Papules, Elastic Skin, and Angoid Streaks
- Action to consider: Genetic testing for Ehlers-Danlos syndrome
Porphyria Investigation
- A 10-year-old child with normal findings and scars on knuckles:
- Expected positive investigation: Porphobilinogen deaminase activity
- Expected negative investigation: Uroporphyrinogen I synthase deficiency
Juvenile Xanthogranuloma
- Next step: Observation and follow-up
Generalized Purpuric Eruption and Sole Ulcer
- Treatment: Corticosteroids
Mastocytosis
- Monitor liver function tests during treatment for mastocytosis to assess drug-induced liver injury.
Perforating Disease
- Investigation: Skin biopsy
Nodules on the Olecranon Ligament
- Investigation: Skin biopsy
End-Stage Renal Disease with Perforating Disease
- Treatment: Kidney transplantation
3-Month-Old Child with Vomiting, Brown Lesions, and Osteolytic Lesions
- Treatment: Bisphosphonates
Hypothesia and Hypohydrosis
- Investigation: Nerve conduction studies
Scleromyxoedema
- Treatment: Topical corticosteroids
10-Year-Old Child with Normal Findings and Scars on Knuckles
- Investigation: Porphobilinogen deaminase activity
Langerhans Cell Histiocytosis
- Investigation: Bone marrow biopsy
Vesicular Eruption on Hand, Arm, and Face
- Treatment: Topical corticosteroids
Generalized Hyperpigmentation, Hepatomegaly, and Diabetes
- Association: Hemochromatosis
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Description
Test your knowledge of metabolic disorders with this quiz covering lipoid proteinosis and systemic amyloidosis. Answer questions about treatment options, diagnostic procedures, and management of these conditions.
