Metabolic Disorders Quiz: Lipoid Proteinosis and Systemic Amyloidosis

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Questions and Answers

What is the treatment of choice for lipoid proteinosis causing hoarseness of voice?

Acitretin (correct)

Steroid

Chemo

Anti siRNA

What genetic mutation is associated with Legius syndrome, which presents without tumors, freckles, lipoma, macrocephaly, and ADHD?

SPRED1 gene mutation (correct)

Fibrous dysplasia gene mutation

GNAS mutation

NF1 gene mutation

In a case of severe itchy macular hyperpigmentation on the back (macular amyloidosis), what investigation would be most appropriate?

Blood PTN fixation or detection

Congo red (correct)

Fat aspiration

Calcitonin level or thyroid scan

What would be the next step for a patient suspected of systemic amyloidosis?

Serum protein electrophoresis Signup and view all the answers

What is the next step for a female patient with macular amyloidosis?

Consult an endocrinologist Signup and view all the answers

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?

TNFR1 syndrome Signup and view all the answers

What gene defect is associated with Fabry's disease?

GLA gene Signup and view all the answers

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?

Spine Signup and view all the answers

What is the most common association of macular amyloidosis?

No known specific association Signup and view all the answers

What mutation is responsible for causing Langerhans cell histiocytosis?

Mutation in BRAF gene Signup and view all the answers

In a patient with cutaneous amyloidosis, what organ association is commonly seen?

(Renal) kidney involvement Signup and view all the answers

(Tubers xanthoma) bilateral nodules on the Achilles tendon are typically associated with an elevation in which investigation?

(Cholesterol) serum cholesterol levels Signup and view all the answers

(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?

(Galactosidase A) alpha-galactosidase A Signup and view all the answers

In a patient with neurofibromatosis, what association is commonly seen?

Pheochromocytoma development Signup and view all the answers

In a case of Wilson's disease, what would you expect to find in the epidermis?

Elastic fiber accumulation Signup and view all the answers

In a patient with Wilson's disease, what would you expect to find in the epidermis?

Elastic fibers Signup and view all the answers

In a case of severe itchy macular hyperpigmentation on the back (macular amyloidosis), what investigation would be most appropriate?

Bone marrow biopsy Signup and view all the answers

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?

Spine Signup and view all the answers

In a patient with cutaneous amyloidosis, what organ association is commonly seen?

Renal impairment Signup and view all the answers

(Tubers xanthoma) bilateral nodules on the Achilles tendon are typically associated with an elevation in which investigation?

Cholesterol level Signup and view all the answers

(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?

Galactosidase A Signup and view all the answers

In a case of Wilson's disease, what will you expect to find in the epidermis?

Elastic fibers Signup and view all the answers

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?

ACE Fabry's disease defect (picture) Signup and view all the answers

A female patient with macular amyloidosis would most likely require what investigation next?

Immunofixation Signup and view all the answers

A child with porphyria would most likely benefit from which treatment approach?

Phlebotomy Signup and view all the answers

A patient with skin-colored papules and elastic skin on the neck and angoid streaks on retina should consider taking which action next?

Start Biologic Signup and view all the answers

What investigation would be most appropriate for a patient with sever itchy macular hyperpigmentation on the back (macular amyloidosis)?

Congo red Signup and view all the answers

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?

Urine porphyrin: negative, Blood porphyrin: positive Signup and view all the answers

In a case of severe itchy macular hyperpigmentation on the back (macular amyloidosis), what would be the most appropriate association?

Systemic amyloidosis Signup and view all the answers

In a case of lipoid proteinosis causing hoarseness of voice, what is the most appropriate treatment?

Chemo Steroid + Melphalan Signup and view all the answers

In a patient with neurofibromatosis, what association is commonly seen?

Café au lait macules Signup and view all the answers

What association would be commonly found in a patient with Legius syndrome caused by SPRED1 gene?

Macrocephaly Signup and view all the answers

Which investigation is typically elevated in a patient with tuberous xanthoma (bilateral nodules on the Achilles tendon)?

Calcitonin level Signup and view all the answers

(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?

alpha-galactosidase A Signup and view all the answers

In a patient with cutaneous amyloidosis, what organ association is commonly seen?

Kidney Signup and view all the answers

What would be the next step for a patient suspected of systemic amyloidosis?

Blood or urine electrophoresis Signup and view all the answers

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?

Arm Signup and view all the answers

What genetic mutation is associated with Legius syndrome, which presents without tumors, freckles, lipoma, macrocephaly, and ADHD?

SPRED1 gene Signup and view all the answers

Which gene defect is associated with Legius syndrome, presenting without tumors, freckles, lipoma, macrocephaly, and ADHD?

SPRED1 Signup and view all the answers

In a case of lipoid proteinosis causing hoarseness of voice, what is the most appropriate treatment?

Steroid Acitretin Signup and view all the answers

What investigation would be most appropriate for a patient with severe itchy macular hyperpigmentation on the back (macular amyloidosis)?

Congo red Signup and view all the answers

In a patient with generalized hyperpigmentation, hepatomegaly, and diabetes, what association would be expected?

McCune-Albright syndrome by GNAS mutation Signup and view all the answers

Which investigation would be most appropriate for a 10-year-old child with normal findings but scars on knuckles, to differentiate between porphyria types?

Urine porphyrin negative blood porphyrin positive Signup and view all the answers

(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?

Fabry's disease enzyme Signup and view all the answers

What is the next most appropriate step for a female patient with macular amyloidosis?

Seek evaluation by an ophthalmologist. Signup and view all the answers

In a case of juvenile xanthogranuloma, what would be the next most appropriate step?

Consult with an ophthalmologist. Signup and view all the answers

For a 40-year-old female with generalized purpuric eruption and sole ulcer, what would be the most appropriate treatment?

Methotrexate. Signup and view all the answers

What should be monitored during treatment for mastocytosis aggravated by a drug?

Serum creatinine levels. Signup and view all the answers

In a patient with skin-colored papules, elastic skin on the neck, and angoid streaks on the retina, what action is most appropriate?

Introduce simvastatin. Signup and view all the answers

What is the best investigation to order for a patient with perforating disease, consistent clinical features, and renal failure?

Serum creatinine test. Signup and view all the answers

What investigation is needed for a patient with nodules on the olecranon ligament?

[X-ray of the affected area. Signup and view all the answers

What is the treatment of choice for end-stage renal disease with perforating disease?

[NBUVB phototherapy]. Signup and view all the answers

A 3-month-old child presents with vomiting and brown lesions, and an X-ray shows osteolytic lesions. What is the most appropriate treatment?

Vincristine or vinblastine Signup and view all the answers

What is the most appropriate treatment for an infant with low weight and multiple brown lesions with X-ray findings of osteolytic lesions?

Vincristine Signup and view all the answers

In a patient with lipoid proteinosis causing hoarseness of voice, which treatment should be avoided due to the potential severity of adverse reactions?

Chemo Steroid + Melphalan Signup and view all the answers

In a case of generalized hyperpigmentation, hepatomegaly, and diabetes, what association would be expected?

Hemochromatosis Signup and view all the answers

What investigation is most appropriate for a 10-year-old child with normal findings but scars on knuckles?

Blood porphyrine positive Signup and view all the answers

In a case of macular amyloidosis, what investigation would be most appropriate?

Congo red Signup and view all the answers

Which gene defect is associated with Legius syndrome, presenting without tumors, freckles, lipoma, macrocephaly, and ADHD?

SPRED1 gene Signup and view all the answers

What is the next most appropriate step for a patient suspected of systemic amyloidosis?

Blood or urine electrophoresis Signup and view all the answers

What is the next most appropriate step for a female patient with macular amyloidosis?

Consult an ophthalmologist. Signup and view all the answers

In a case of Langerhans cell histiocytosis, which investigation would be needed if the skull or cranium is not present?

X-ray on the leg. Signup and view all the answers

In a patient with nodules on the olecranon ligament, what investigation would be most appropriate?

Cholesterol levels test. Signup and view all the answers

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?

Phlebotomy if porphyria cutanea tarda (PCT) is present. Signup and view all the answers

In a case of Hypothesia and hypohydrosis, which investigation would be most appropriate?

Mucinosis muco-polysaccharide test. Signup and view all the answers

In a case of scleromyxoedema with waxy papules on the face and upper back, what would be the most appropriate treatment?

Intravenous immunoglobulin (IVIG) therapy. Signup and view all the answers

In an infant with low weight and multiple brown lesions, which treatment is most appropriate if X-ray findings show osteolytic lesions?

Vincristine therapy. Signup and view all the answers

(Angiokeratoma) presenting with hyperkeratosis and rete ridges encircling dilated vessels in the papillary dermis points to a defect in which enzyme?

[Galactosidase A]. Signup and view all the answers

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?

Defect in Fabry's disease gene (GLA galactosidase A). Signup and view all the answers

In a patient with skin-colored papules, elastic skin on the neck, and angoid streaks on retina, what action is most appropriate?

Consider biologic therapy. Signup and view all the answers

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.