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Derm Andrews > 26- Errors In Metabolism > Flashcards

26- Errors In Metabolism Flashcards

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Dermatology Board Prep 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

“Salt 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

Sjögren
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 parts— 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 ceramidase— 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

Derm Andrews (25 decks)

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