26- Errors In Metabolism Flashcards

1
Q

Material deposited in the skin and other organs

Eosinophilic, homogenous and hyaline in appearance

Represents beta-pleated sheet forms of host-synthesized molecules

A

Amyloid

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2
Q

Cutaneous sx in 40%- shiny smooth firm flat topped or spherical papules, waxy color that resemble translucent vehicles

Involves kidneys liver heart GIT skin peripheral nerves

Glossitis with macroglossia

A

Primary systemic amyloidosis (AL amyloidosis)

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3
Q

Most common cutaneous manifestation of primary systemic amyloidosis

A

Purpuric lesions and ecchymoses

Eyelids limbs and oral cavity
Occurs after trauma

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4
Q

Patients with systemic amyloidosis are at increased risk for the development of

A

Skin cancer

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5
Q

This lab finding in systemic amyloidosis is associated with a 6 month survival

A

Elevated troponin

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6
Q

This type of amyloidosis is associated with chronic infection or inflammatory process

No skin involvement

A

Secondary amyloidosis (AA amyloidosis)

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7
Q

Most cases of secondary systemic amyloidosis are now related to chronic inflammatory conditions like

A

RA

Juvenile idiopathic arthritis
Ankylosing spondylitis
IBD
Behçet disease

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8
Q

SAA levels should be maintained at _____ mg/mL to have a good outcome

A

4mg/mL

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9
Q

Patients with these types of cutaneous amyloidosis often have coexisting atopic dermatitis

A

Macular

Lichen

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10
Q

Four forms of localized cutaneous amyloidosis

A

Macular
Lichen
Nodular
Familial

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11
Q

Systemic amyloidosis is excluded in post inflammatory hyperpigmentation with pigment incontinence by this histologic finding

A

Absence of amyloid deposits around blood vessels

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12
Q

What type of cutaneous amyloidosis?

Moderately pruritic brown rippled macules located in the interscapular region of the back

β€œSalt and pepper” rippled appearance of pigmentation

A

Macular amyloidosis

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13
Q

What type of cutaneous amyloidosis?

Paroxysmally itchy lichenoid papules, always bilaterally appearing on shins

Small brown discrete slightly scaly papules that group into plaques

A

Lichen amyloidosis

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14
Q

Treatment for lichen and macular amyloidosis

A
Reduce friction
High potency steroid
PUVA
UVB
laser therapy
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15
Q

Single or multiple tumefactions/nodules involve the acral areas

Asymptomatic, may grow slowly
Overlying epidermis may be atrophic or resemble large bullae

A

Nodular amyloidosis

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16
Q

Diseases associated with nodular amyloidosis

A

SjΓΆgren
Systemic sclerosis
RA

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17
Q

7% of patients in this type of amyloidosis can progress to systemic amyloidosis

A

Nodular

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18
Q

Most common type of porphyria

A

Porphyria cutanea tarda

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19
Q

Most common in midlife
Photosensitivity that results in bullae on sun exposed partsβ€” rupture to form erosions and shallow ulcers

Hyperpigmentation of the skin, skin fragility in affected areas

Hypertrichosis and violaceous/pink tint of the face

A

PCT

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20
Q

Liver disease and history of alcoholism is common in patients with this type of porphyria

A

PCT

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21
Q

PCT is a well recognized cutaneous complication of this viral infection

A

HCV

22
Q

PCT is caused by a deficiency in what enzyme?

A

Uroporphyrinogen decarboxylase (UROD)

23
Q

Useful confirmatory test of PCT

A

Pink or coral red fluorescence of urine specimen under Wood’s light

24
Q

Treatment of PCT

A

Removal of offending agents- alcohol, sunlight

Phlebotomy- 500ml q2 weeks
Antimalarials -complex excess porphyrins which enhances excretion
-Chloroquine 125 mg or HCQ 100-200mg twice weekly

25
Q

Have histologic features of PCT but normal urine and serum porphyrins

No hypertrichosis, dyspigmentation

A

Pseudoporphyria

26
Q

Pseudoporphyria is usually caused by

A

NSAIDS- naproxen

27
Q

Cutaneous calcification from deposits of calcium and phosphorus in the skin

A

Calcinosis cutis

28
Q

What type of calcinosis cutis?

Occurs in preexisting lesion or inflammation
Normal systemic calcium metab, serum levels normal
Lesions affect skin only- small deposits of chalky granular material around fingers, elbows and other areas of trauma

A

Dystrophic calcinosis cutis

29
Q

Treatment for dystrophic calcinosis cutis

A

Surgical removal

Bisphosphonates
Diltiazem
Warfarin
IVIG, TNF inhibitors 
Thalidomide 
Colchicine
30
Q

What type of calcinosis cutis?

Calcifications in skin, elevated serum calcium and hyperphosphatemia

Associated with bone loss

A

Metastatic

31
Q

Most common metabolic condition associated with metastatic calcifications (metastatic calcinosis cutis)

A

Renal failure

32
Q

Most common form of ideopathic calcinosis cutis

A

Scrotal calcinosis

33
Q

Patients with Eruptive xanthoma has increased _______ (lipoprotein type)

A

Triglycerides

34
Q

What type of lipoprotein is increased in Tendinous xanthoma?

A

LDL

35
Q

Xanthoma that may not be associated with increased lipids

A

Xanthoma planum

36
Q

Most common type of xanthoma

A

Xanthelasma

37
Q

Treatment of xanthelasma

A

Surgical excision

38
Q

Ashkenazi Jews
Mutation in sphingomyelinase gene

Neurovisceral disease, Xanthomas, yellow brown induration of the skin

Death before age 50

A

Niemann Pick disease

39
Q

Most common lysosomal storage disease

A

Gaucher disease

40
Q

Deficient B-glucosidase- accumulation of glucosylceramide
Ashkenazi Jews

Hepatosplenomegaly, osteopenia, sclera pingueculae and bronze coloration

Neuro sx

A

Gaucher disease

41
Q

Rare x-linked lysosomal storage disease with mutation of a-galactosidase A gene

Punctate telangiectatic vesicular papules(angiokeratoma)
Corneal opacity, hypohidrosis, scanty hair, visceral dse, neuropathic pain

A

Fabry disease

42
Q

Type 1 Diabetic skin disorder

Well circumscribed firm depressed waxy yellow-brown plaques in anterior shin

A

Necrobiodis lipoidica

43
Q

Inborn error of tryptophan excretion

Pellagra like dermatitis after sunlight exposure, intermittent cerebellar ataxia, psychosis, aminoaciduria

A

Hartnup disease

44
Q

Autosomal recessive disorder of phenylalanine metabolism d/t phenylalanine hydroxylase deficiency

Mental deficiency, seizures, pseudoscleroderma and eczematous dermatitis

Blue eyes, blond hair and fair skin, light sensitivity

A

PKU

45
Q

Most common form of inherited aminoaciduria

A

PKU

46
Q

Autosomal recessive
Lack of renal and homogentisic acid oxidase

Dark urine that becomes black when standing
Scleral pigmentation (Osler sign), cartilage pigmentation

Blue or mottled brown macules in skin

A

Alkaptonuria

47
Q

Autosomal recessive derangement of copper transport

Hepatosplenomegaly and neuropsych changes
Azure lunulae (sky blue moon) of nails
Kayser-Fleischer rings at corneal edges
Hyperpigmentation on LE

A

Wilson disease

48
Q

Mucopolysaccharide metabolism lysosomal storage disease

Deficiency of a-iduronidase (breakdown of heparan and dermatan sulfate)

Mental retardation, hepatosplenomegaly, umbilical and inguinal hernia, facial dysmorphism (saddle nose, thick lips, large tongue)
Thickened skin with ridges and grooves

A
Hurler syndrome (MPS 1)
-mucopolysaccharidosis 1
49
Q

Deficiency of iduronate 2 sulfatase

Pebbly lesions on upper back, neck, chest, proximal arms or thighs

Dermatan and heparan sulfate are excreted in urine

A

Hunter syndrome

MPS II

50
Q

Periarticular nodules, joint swelling and deformation, weak cry, pulmonary failure and motor and mental retardation

Deficient ceramidaseβ€” accumulation of ceramide

Rubbery subcutaneous nodules

A

Farber disease

51
Q

Childhood hyperuricemia, gout, tophi, choreoathetosis, mental retardation and self mutilation

A

Lesch-Nyhan syndrome