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Metabolic Dan Flashcards

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1
Q

T/F

Hereditary coproporphyria causes skin disease only

A

False

Skin + acute attacks

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2
Q

T/F

Porphyria cutanea tarda (PCT) is the most common type of porphyria

A

True

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3
Q

T/F

Acute intermittent porphyria (AIP) causes acute attacks only

A

True
no skin disease
AIP is alone in this group

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4
Q

Which porphyrias cause skin disease only?

A

Porphyria cutanea tarda (PCT)
Congenital erythropoietic porphyria (CEP)
Erythropoieic protoporphyria (EPP)

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5
Q

Which porphyrias cause skin disease and acute attacks?

A 
Hereditary coproporphyria (HC)
Variegate porphyria (VP)
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6
Q

T/F

Porphyrias all result from a total deficiency of one of the enzymes required for the biosynthesis of haem

A

False

from a partial deficiency of one of the enzymes

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7
Q

T/F

‘Bullous porphyrias’ includes all the skin disease causing porphyrias

A

False

EPP causes pain and erythema on sun exposure not bullae

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8
Q

T/F

All of the porphyrias except AIP cause cutaneous disease

A

True

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9
Q

T/F

Porphyrins absorb photons of infrared light, with wavelength peak at 408nm

A

False

visible violet light with peak at 408nm = the Soret band

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10
Q

T/F

Most types of porphyrias are inherited

A

True

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11
Q

T/F

Most patients with an inherited porphyria get symptoms eventually

A

False

Most remain asymptomatic

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12
Q

T/F

Accumulation of hydrophobic porphyrins leads to blistering skin disease on light exposure

A

False

Hydrophilic porphyrins accumulate in skin causing blistering

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13
Q

T/F
Accumulation of lipophilic protoporphyrins leads to an immediate cutaneous burning sensation after exposure to light, accompanied by erythema, and oedema

A

True

this occurs in EPP

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14
Q

T/F

Variegate porphyria causes immediate cutaneous burning sensation after exposure to light

A

False
In VP hydrophilic (uro- and copro-) and hydrophobic (proto-) porphyrins accumulate but the blistering skin disease predominates clinically

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15
Q

T/F

Acute porphyria attack is an acute and potentially fatal illness

A

True

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16
Q

T/F

In liver, a small proportion of available haem is incorporated into cytochrome P450 proteins

A

False

this is the main fate of haem in the liver

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17
Q

T/F

Acute porphyria attacks are caused by penicillins

A

False

not one of the main causes but can be true for individuals

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18
Q

What are the triggers of acute attakcs in porphyrias?

A 
FIG BEANS
Fever/
Infection
Griseofulvin
Barbiturates
(o)Estrogen
Alcohol
Nutritional (fasting)
Sulfonamides
Or 
5 M’s 
Medication
Menstruation(Oe) - esp luteal phase of cycle
Maladie
Malnutrition (fasting)
Merlot (alcoholism)
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19
Q

What are the features of acute attacks in porphyrias?

A

6 P’s
Porphobilinogen deaminase deficiency and build up of Porphobilinogen
Precipitated by the 5 M’s
Pain in abdomen – in 95% of cases
Psychological symptoms – anxiety/agitation, hallucination, delirium, depression
Peripheral neuropathy – patchy numbness and paraesthesias
Pee Problems – dysuria, retention, Port-wine (dark purple) urine on standing/UV light

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20
Q

T/F

Haem is synthesised from Glycine + AcetylCoA

A

False

Glycine + SuccinylCoA

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21
Q

What are the substrates involved in the haem biosynthesis pathway?

A

‘Glycine & SuccinylCoA All Placed high in Urine Cup Produces Protoporphyrin 9’

Glycine + SuccinylCoA
δ Aminolevulinic acid
Porphobilinogen
Hydroxymethylbilane
Uroporphyrinogen (III)
Coproporphyrinogen(s)
Protoporphyrinogen IX
Protoporphyrin IX
(Haem)
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22
Q

T/F

The enzyme deficiency in PCT is Uroporphyrinogen decarboxylase (UROD)

A

True

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23
Q

T/F

The main substrate that builds up in PCT is coproporphyrinogen

A

False

Uroporphyrinogen (III)

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24
Q

What are the enzymes involved in the haem biosynthesis pathway?

A 
‘All Sin All hyde, Porphos Uses Urine Cups on Poor Ferrets’ 
Ala Synthase 
Ala Dehydratase 
Porphobilinogen (PBG) deaminase (AIP)
Uroporphyrinogen (III) synthase (CEP)
Uroporphyrinogen decarboxylase(PCT) UROD
Coproporphyrinogen oxidase (HC)
Protoporphyrinogen oxidase (VP0
Ferrochelatase (EPP)
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25
Q

What are the porphyrias and associated enzymes involved in the haem biosynthesis pathway?

A

Enzymes - (All Sin All hyde,) Porphos Uses Urine Cups on Poor Ferrets’
Porphyrias - All Congenital Porphyrias Have Variable Presentations

Porphobilinogen deaminase (AIP)
Uroporphyrinogen (III) synthase (CEP)
Uroporphyrinogen decarboxylase(PCT)
Coproporphyrinogen oxidase (HC)
Protoporphyrinogen oxidase (VP0
Ferrochelatase (EPP)
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26
Q

T/F

The first 2 enzymes in the haem biosynthesis pathway dont cause porphyrias if they are deficient

A

False
Cause rare porphyrias - dont need to know about these

Ala Synthase (X-linked dom porphyria)
Ala Dehydratase (ALA-dehydratase deficiency porphyria - rare, no skin disease)
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27
Q

T/F

Urinary porphobilinogen deaminase is raised during acute attacks of porphyria

A

False
Urinary porphobilinogen is raised
porphobilinogen deaminase is the deficient enzyme

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28
Q

T/F

Acute intermittent porphyria (AIP) is the most rare acute porphyria

A

False

Most common

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29
Q

T/F

Most inherited porphyrias are AR

A 
False
Most are AD
CEP is AR
rare cases of EPP are recessive
PCT is 75% acquired (type 1), almost 25% AD (type 2) and a tiny proportion types 3 (familial, inheritence unknown) or 'toxic' acquired type due to halogenated aromatic hydrocarbons in herbicides
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30
Q

What are the high risk factors for developing hepatocellular carcinoma in PCT pts?

A

male
age >50 at presentation
symptoms longer >10yrs prior to treatment
severe changes on liver bx at presentation
Hep C infection

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31
Q

T/F

There are two types of PCT

A

False
2 man types account for the vast majority but there are other;
Type I - sporadic acquired
Type II - AD
Type III - rare familial, inheritence unknown
Toxic type
Also Hepatoerythropoietic porphyria (HEP) - Pt is homozygous for gene mutation so >90% reduction in UROD - NB mutation diffrent to those seen in type II

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32
Q

What are the histo features of PCT (and other bullous porphyrias)?

A

Cell-poor subepidermal bulla
festooning
caterpillar bodies in epi
PAS +ve, diastase resistant thickening (hyalinization) of upper dermal vessels and BM (reduplication of BM)
IMF +ve for IgG +/- IgM, complement + fibringoen at DEJ

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33
Q

T/F

CEP is a common mild porphyria

A

False
very rare AR, congenital onset of symptoms
mutilating ‘warewolf’ type
severe cutaneous photosensitivity, blistering, erosions, crusts, ulcerations
Extensive scarring and deformation of hands
Also;
Brown stained teeth
osteopenia and fractures
haemolytic anaemia and splenomegally
Hypertransfusion inhibits endogenous haem synthesis but iron overload becomes problematic

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34
Q

T/F

>50% of PCT pts have increased total body iron stores

A

True

60%

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35
Q

T/F

80% of PCT pt have inherited hameochromatosis

A

False

20% in USA and N europe

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36
Q

T/F

Homozygous haemochromatosis mutation increases the risk of developing PCT by 20x

A

False

60x increase

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37
Q

T/F

Iron overload in PCT pts who do not have haemochromatosis is due to excess dietary iron

A

False

cause unknown

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38
Q

T/F

Heterozygous haemochromatosis mutation increases the risk of developing PCT by 20x

A

False

risk unknown if heterozygous

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39
Q

T/F

Hep C infection amongst PCT pts is highest in Southern Europe

A

True
then USA
then N Europe

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40
Q

T/F

20% of alcoholics with cirrhosis develop PCT

A

False

2%

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41
Q

T/F

Alcohol is an important trigger for PCT in susceptible pts

A 
True
Main triggers are;
Subclinical genetic haemochromatosis
HepC
Acohol
Oestrogens (OCP or HRT)
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42
Q

T/F

Ingested oestrogens are the sole risk factor for PCT in most female pts

A

False

sole risk factor for PCT in >25% of female pts

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43
Q

T/F

15% of PCTs pts have cirrhosis

A

True

Must investigate liver

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44
Q

What are the causes of Phrynoderma

A 
Toad-like skin
Vit A, C or E deficiency
B-complex deficiency
Essential fatty acid deficiency
general malnutrition.
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45
Q

T/F
Medications that induce symptoms of Pellagra include:
Isoniazid

A

True

Isoniazid, 5-FU, 6-mercaptopurine, azathioprine, phenytoin, chloramphenicol, sulfonamides, antidepressants.

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46
Q

T/F

Medications that induce symptoms of Pellagra include: Systemic 5-fluorouracil

A

True

Isoniazid, 5-FU, 6-mercaptopurine, azathioprine, phenytoin, chloramphenicol, sulfonamides, antidepressants

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47
Q

T/F

Medications that induce symptoms of Pellagra include: 6-Mercapto Purine

A

True

Isoniazid, 5-FU, 6-mercaptopurine, azathioprine, phenytoin, chloramphenicol, sulfonamides, antidepressants

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48
Q

T/F

Medications that induce symptoms of Pellagra include: Sulphonamides

A

True

Isoniazid, 5-FU, 6-mercaptopurine, azathioprine, phenytoin, chloramphenicol, sulfonamides, antidepressants

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49
Q

T/F

Regarding Porphyria’s: Photosensitivity is seen in Variegate Porphyria

A

True

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50
Q

T/F

Hypertrichosis is seen in Hepato-Erythropoietic Porphyria

A

True

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51
Q

T/F

Lithium is safe in patients with acute hepatic Porphyria

A

True

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52
Q

T/F

Frusemide is safe in patients with acute hepatic Porphyria

A

False

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53
Q

T/F

10% of Porphyria Cutanea Tarda patients present in childhood

A

False

childhood presentation very rare

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54
Q

T/F

Regarding dystrophic calcification, it is more commonly associated with adult onset Dermatomyositis over Juvenile

A

False

Juvenille>adult

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55
Q

T/F

Regarding dystrophic calcification, calcification tends to go within the first year of disease onset

A

False

rarely nodules improve spontaneously after many years in dermatomyositis cases

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56
Q

T/F

Regarding dystrophic calcification, the buttocks are frequently affected

A

True

elbows, knees, shoulders, buttocks

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57
Q

T/F

Regarding dystrophic calcification, calcified nodules may improve spontaneously

A

True

rarely nodules improve spontaneously after many years in dermatomyositis cases

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58
Q

T/F

Regarding dystrophic calicification, calcinosis has been described in all clinical subsets of Lupus Erythematosus

A

True

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59
Q

T/F

Coproporphyrins are lipophilic

A

False
uro- and copro-porphyrins are hydrophilic
protoporphyrins are lipophilic

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60
Q

T/F

In EPP, protoporphyrin accumulates in RBCs mainly

A

True

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61
Q

What tests should be done on blood samples for porphyria?

A

plasma porphyrins and red cell porphyrin analysis + plasma spectrofluorometry if available

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62
Q

T/F

Protoporphyrin accumulates in the red cells in PCT

A

False
red cells are normal in PCT
Protoporphyrin accumulates in red cells in EPP

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63
Q

Where is the plasma fluorometry peak in PCT?

A

615-620 nm
same for;
PCT, CEP and HC

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64
Q

T/F

Biochemical findings are the same in HEP as in PCT

A

False

largely the same but also have red cell zinc-protoporphyrin

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65
Q

What are the biochemical findings in PCT?

A 
Urine - Uroporphyrin III
Feaces - Isocoproporphyrin
Red cell porphyrins - normal
Plasma porphyrins - Uroporphyrin III
Plasma spectrofluorometry peak - 615-620nm
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66
Q

T/F

plasma and urine porphyrins are increased in renal failure

A

True

In renal failure it is essential to send faecal sample

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67
Q

T/F
Faecal sample may be the only way to tell HC and CEP apart as all other prarameters can be the same esp in renal failure pts

A

True

68
Q

T/F

For porphyria testing, all specimens should be kept at 4 degrees in the dark and analysed within 48hrs

A

False
room temp okay
must be kept dark though

69
Q

How does CEP present?

A

Manifests shortly after birth with severe cutaneous photosensitivity, blistering, erosions, crusts, ulcerations
Extensive scarring and deformation of hands
Also;
- Brown stained teeth
- osteopenia and fractures
- haemolytic anaemia and splenomegally

70
Q

What are the risk factors for developing PCT?

A

Subclinical genetic haemochromatosis
HepC
Alcohol abuse
Oestrogens
Others – haemodialysis, HIV, T2DM, HepA or B, SLE, dermatomyositis, sideroblastic anaemia, thallasaaemia, haem malignancy, tamoxifen, dialysis
- Polychlorinated hydrocarbons (herbicides) (cause toxic type PCT)

71
Q

How does PCT present?

A

Type I (acquired) presents in middle age whilst Type II (AD) can occur at a younger age

72
Q

What is the link between excess iron in the liver and PCT?

A

UROD enzyme is inactivated by an inhibitor in the liver. The inhibitor is generated in the liver by reactive oxygen species in presence of iron. The accumulated uroporphyrinogen diffuses from plasma into surrounding tissues, causing a phototoxic reaction in upper dermis of sun-exposed skin.
Therefore elevated iron in the liver increases the inhibitor of UROD and results in build up of uroporphyrinogen.

73
Q 
T/F
Hepatoerythropoietic porphyria (HEP) is caused by a mutation in the gene for Coproporphyrinogen oxidase
A

False
HEP is due to a homozygous form of familial PCT and associated with over 90% reduction in UROD activity. The mutation in UROD gene is different to that seen in type 2 PCT. Clinically similar to CEP with photosensitivity during infancy and mutilating scarring of face and fingers

Coproporphyrinogen oxidase gene is mutated in HC

74
Q

What are the clinical fetaures of PCT?

A
  • Increased photosensitivity and skin fragility
    Blistering, erosions, crusts, milia, scars in sun-exposed sites
    Post-inflammatory hyperpigmentation, hypertrichosis, patchy scarring alopecia, morpheaform and sclerodermoid changes
75
Q

T/F

PCT patients are at higher risk of hepatocellular carcinoma as porphyrins are carcinogenic to liver

A

True

76
Q

T/F

Most patients with genetic Hereditary Coproporphyria get skin involvement

A

False
only 10-20% do
Blistering features like PCT
presents from puberty onwards

77
Q

T/F

In Variegate Porphyria 80% of pts with mutation are asymptomatic

A

True

78
Q

T/F

Variegate Porphyria is more common in south america than elsewhere

A

False

common in south africa

79
Q

T/F

Pts who are homozygous for the AD muattion in VP get severe acute porphyria attacks

A

False

severe skin disease similar to CEP but do not get acute attacks

80
Q

In VP what proportion of symptomatic pts get skin disease or acute attacks?

A

Manifests from puberty as skin fragility on backs of hands after sun exposure
Of symptomatic pts (only about 20% w/ gene mut);
- 70% have cutaneous involvement (same as PCT)
- 17% will ever suffer an acute attack

81
Q

How does EPP present?

A

Manifests in first yr of life
Babies crying for no obvious reason
Immediate pain, burning, stinging on exposure to bright sunlight of nose, cheeks, dorsal hands within minutes
Only clinical sign is subtle oedema of hands during an attack +/- erythema and then wax-like scarring
- No blisters unless severe attack
Can develop rough pebbly skin over nose, forehead and cheeks
thick skin on knuckles and IPJs
shallow linear or punctuate scars on cheeks or forehead and radial scars around lips

82
Q

T/F

Protoporphyric or EPP induced liver failure is a rare complication of EPP

A

True
In 1% of EPP cases
Protoporphyrins toxic to bile ducts and liver. Need to block theatre lights during liver transplant to prevent severe toxic reaction

83
Q

What is the immediete management of acute attacks of porphyria?

A

Diagnose by testing urinary PBG level – if normal cannot be acute porphyria
Identification and elimination of precipitating factors (porphyrinogenic drugs; alcohol; hormones)
Admit to ICU and input from porphyria specialists
Careful fluid balance management with correction of hyponatremia
Adequate pain therapy, e.g. with opioid analgesics
Adequate therapy of nausea and vomiting, e.g. with promethazine, ondansetron + may need anxiolytics
IV administration of either: (1) heme arginate or (2) hemin over several days with more extended treatment for severe cases
If necessary, until heme preparations become available, intravenous glucose infusions
Measurement of urinary porphyrin excretion during the acute attack (daily, if possible) esp porphobilinogen

84
Q

What is the long term management of pts with forms of porphyria prone to acute attacks?

A

Give a list of ‘safe-drugs’ from Porphyria drug database (e.g. safe antihypertensives to use in a patient with acute porphyrias)
NB: even if on safe list not 100% safe in an individual; always check previous reactions if known
Abstain from alcohol, cannabis, prolonged calorie-restricted diets
Wear emergency identification bracelet (e.g. MediAlert)
Screen relatives for clinically latent disease (AD types), genetic counselling (pt if AD, parents if AR)
Can reassure patients with PCT, EPP, and CEP that acute attacks are not part of their disease
Some pts with frequent uncontrolled acute attacks need liver Tx

85
Q

What is the approach to pts with skin types of porphyria?

A

Need to: 1) Make diagnosis, 2) Look for triggers & 3) Assess liver disease
Ix: urine and red cell porphyrins, plasma porphyrins and plasma fluorometry (or urine + faecal porphyrins)
FBC, ELFTs, Iron studies, Hep A/B/C/ HIV serology, HFE gene studies (haemochromatosis), αFP (HCC tumour marker), fasting BSL, ANA, G6PD
Liver USS
Referral to gastroenterologist for consideration of liver bx
Derm Mx
1 Photoprotection, e.g. broad-spectrum PHYSICAL sunscreens and/or protective clothing, window screens for home and car
2 Avoidance of sunlight exposure and trauma
3 For VP or HC can try Oral β-carotene or canthaxanthine
PCT and EPP have more specific different treatments

86
Q

What is the specific Rx of PCT?

A

Venesection - first line:
200–500 ml every 1-4 weeks over ~3–6 months - targets are;
keep Hb >100 (100-120)
continue until ferritin levels low-normal 20-30
and transferrin sats 15%
- This depletes liver iron and allows enzyme function to return to normal
Blisters resolve in 3/12, skin fragility in 6-9 & porphyrins normalise in 12 – stop venesection when porphyrin tests normal
Venesection is usually 1st line, esp if;
- homozygous haemochormatosis mutation
(Cys282tyr AKA C282Y)
- Or Pathologically high serum ferritin – likely haemochromatosis (most have this)
- Or have HepC liver disease requiring iron depletion
Measurement of urinary porphyrin excretion to monitor therapeutic outcome
Low-dose antimalarials - usually 2nd line option;
HCQ 200 mg twice weekly (e.g. on Monday and Thursday) over 6–12 months, until porphyrin excretion is within normal range
can use chloroquine at 125-250mg twice per week. Antimalarials form complexes w/ uroporphyrin and increases its excretion in bile
Second line therapies:
- Desferrioxamine infusions (iron chelating agent) – good for renal failure pts
- EPO used to treat ESRF-related PCT or as an adjuvant to venesection when Hb is low but ferritin remains elevated (forces iron into new RBCs)
Treatment of Hep C with interferon, ribavirin, telapravir
Treatment of HIV with HAART
Plasmapheresis/Plasma exchange
long term follow up for all pts – venesection induced remission lasts longer – about 2.5yrs, antimalarial remission lasts 1.5-2 years

87
Q

What is the Rx for EPP?

A

Strict and absolute photoprotection. Avoid sunlight exposure (common window glass does not provide protection)
-for acute painful skin – fans, cold water; may need admission for opiates
-Oral β-carotene: 30–90 mg/day in children; 60–180 mg/day in adults. Desirable maximum plasma level: 600–800 mcg/dl. Administration during the spring, summer and autumn, with a hiatus during the winter in higher latitudes
- nbUVB in spring can reduce severity of attacks
-Afamelanotide-α-MSH; 20 mg every 60 days as a resorbable implant) may increase tolerance to light exposure
-Consider cholestyramine or charcoal to reduce enterohepatic recirculation of porphyrins and bile acids in order to enhance hepatic porphyrin excretion if pt develops liver problems; results vary
-BMT used in rare severe cases esp if liver disease
MUST have annual LFTs and red cell protoporphyrin conc to assess for liver failure

88
Q

What is Rx of CEP?

A

1 Photoprotection, e.g. broad-spectrum sunscreens and/or protective clothing
2 Strict avoidance of sunlight exposure
3 Change day–night rhythm
4 Hypertransfusion to inhibit endogenous haem synthesis
5 Splenectomy (reduces hemolysis and platelet consumption)
6 hematopoietic stem cell transplantation

89
Q

What is Rx of HEP

A

1 Photoprotection, e.g. broad-spectrum sunscreens and/or protective clothing
2 Strict avoidance of sunlight exposure and trauma
3 Change day–night rhythm
4 Of note, therapeutic approaches used in porphyria cutanea tarda (e.g. phlebotomy, antimalarials) are not effective

90
Q

What are the causes of pseudoporphyria?

A

Usually due to drugs which cause damage to DEJ by low grade phototoxicity esp in presence of CRF – kind of phototoxic drug eruption
esp NODD – Naproxen, OCP, Doxy, Dapsone
Naproxen is number 1 cause
many other causes
Can be induced by regular strong UVA exposure alone e.g. sunbathing with UVB sunscreen only or using IVA sunbed

91
Q

What is pseudoporphyria?

A

Kind of low grade phototoxicity
Closely resemble PCT or VP
Most common in CRF
Histo the same as PCT
Must work up and exclude PCT with biochemical tests
Foecal porphyrin analysis differentiates true PCT from pseudoporphyria in renal haemodialysis pts
Rx by withdrawing drug and strict sun protection
Resolves in weeks usually

92
Q

T/F

Mucin is component of dermal extracellular matrix, and is normally produced in small amounts by fibroblasts

A

True
jelly-like amorphous mixture of acid glycosaminoglycans
capable of absorbing 1000 times its own weight in water

93
Q

What are the stains for mucin?

A

colloidal iron

alcian blue pH2.5

94
Q

T/F

mucin stains with PAS

A

False

95
Q

What are the types of primary cutaneous mucinosis?

A

Primary dermal mucinoses and secondary dermal
Primary are:
Generalised (Diffuse)
• Lichen Myxoedematosus (Papular mucinosis)
- Generalized (Scleromyxoedema)
- Localized = CLANS (as in the local lichen mixed CLANS)
Cutaneous (acral) (Papular)mucinosis of infancy
Localised (discrete) papular lichen myxoedematosus
Acral persistent papular mucinosis
Nodular lichen myxoedematosus
Self-healing papular mucinosis
Juvenile type
Adult type
- Misc lichen myxoedematosis cases not fitting onto above groups
• Reticular erythematous mucinosis (REM)

Focal
• Focal mucinoses
- Cutaneous focal mucinosis
- Digital mucous cyst (myxoid cyst)

96
Q

What are the types of secondary cutaneous mucinosis?

A 
• Scleredema 
- Secondary to streptococcal infection  
- Associated with monoclonal gammopathy 
- Associated with IDDM 
• Myxoedema (mucinosis associated with abnormal thyroid function)
- Generalized 
- Localized e.g. pretibial
• Follicular mucinosis 
- Benign types
- Lymphoma type
• Secondary mucinoses assoc w/ other inflammatory dermatoses, skin cancers or systemic diseases 
e.g. BCCs, SLE, CutLE, dermatomyositis, Degos disease, CTCL
97
Q

T/F

Scleromyxoedema is almost always associated with monoclonal gammopathy IgM

A

False

almost always associated with IgG monoclonal gammopathy

98
Q

T/F

50% of scleromyxoedema pts progress to multiple myeloma

A

False

99
Q

What are the skin changes in scleromyxoedema?

A

• Numerous, 2-3mm firm waxy closely spaced papules in symmetrical distribution on Head and neck, upper trunk, hands, forearms, and thighs.
• Glabella typically involved = leonine facies
• Can koebnerise
NB No papules seen in scleredema or scleroderma
• Often strikingly linear array
• Surrounding shiny and indurated skin (i.e. sclerodermoid appearance) + erythema, oedema, brownish discoloration
• NB skin is thickened but moveable over subcutis not bound down like in scleroderma
• Progression = coalescing of papules to erythematous indurated plaques, skin stiffening, decreased motility of mouth and joints

100
Q

T/F

scleromyxoedema is a rare condition occuring in middle age and affecting men and women equally?

A

True

101
Q

T/F

scleromyxoedema can be associated with HIV

A

True

monoclonal gammopathy is most usual but can be HIV

102
Q

What is the doughnut sign in scleromyxoedema?

A

central depression surrounded by an elevated rim (due to skin thickening) on PIP joints mimics GA

103
Q

What is the salt & pepper sign and who gets it?

A

hypopigmentation w/ perifollicular retained pigment

seen in systemic sclerosis or scleromyxoedema

104
Q

What are the systemic features of sclermyxoedema?

A 
Dysphagia
proximal muscle weakness due to myositis
peripheral neuropathy (insidious onset in older men)
arthropathies
carpal tunnel syndrome
restrictive or obstructive lung disease
scleroderma-like renal disease
105
Q

What is the concern when a pt with sclermyxoedema presents with dysarthria and flu-like illness?

A

Dermato-neuro syndrome:
potentially life-threatening encephalopathy; begins abruptly with worsening of skin lesions, flu-like prodrome, fever, seizures, and eventual unexplained coma
NB: dysarthria and flu-like illness indicates patient should be promptly admitted to hospital for close observation

106
Q

What are the histological features of the papular mucinoses?

A

Triad of features:
• Diffuse mucin in upper and mid reticular dermis
• Increased collagen deposition (fibrosis)
• Marked proliferation of irregularly arranged fibroblasts

107
Q

T/F

Lichen myxodematosus is the same as Papular mucinosis

A

True

108
Q

T/F

Scleromyxedema is the generalised sclerodermoid form of lichen myxodematosus

A

True

109
Q

What investiagtions are done in ?sclermyxoedema?

A 
Diagnosis;
 - skin Bx
Exclude DDs;
 - TFTs, thyroid Abs
 - ANA. ENA
Asses for triggers;
 - EPP, BJP, Immunofixation
 - HIV
Assess severity/complications;
FBC
ELFTs
\+/-
• RFTs
• CXR/CT
• Urinalysis
• EMG
• Muscle biopsy
110
Q

T/F

1st line Rx for scleromyxoedeam includes Melphalan chemotherapy, Systemic steroids, IVIg and Plasmapheresis

A 
True
1st line
•	Melphalan chemo - Nit mustard deriv
•	Systemic steroids - v high dose
•	IVIg
•	Plasmapheresis
2nd line
•	Thalidomide 
•	TCS
•	ILCS
•	Isotretinoin
•	Etretinate
•	Topical CNI
3rd line
•	Autologous SCT
•	UVA1/PUVA
•	CsA
•	Cyclophosphamide
•	MTX
•	chlorambucil
•	Electron beam XRT
•	IFNalpha
•	ECP
•	vincristine
•	Surgery if needed for functional improvemen
111
Q

T/F

Localised lichen myxoedematosus is strongly associated with monoclonal gammopathy

A 
False
localised (diffuse) types have no associations
112
Q

T/F

Self-healing cutaneous mucinosis resolves over months to years

A

False

weeks to months

113
Q

T/F

Reticular erythematous mucinosis (REM) can be hard to distinguish from Jessners lymphocytic infiltrate?

A

True

114
Q

T/F

Reticular erythematous mucinosis (REM) can be hard to distinguish from Discoid lupus?

A

False

tumid lupus

115
Q

What are the clinical features of REM?

A

F>M, usually middle aged, can be any age inc kids
Photodistributed areas of reticular erythema on trunk
Pinkish erythema in fine reticular pattern
Plaque variant looks ‘sheet-like’
Most often on central chest or mid upper back
Infiltrated appearance, areas expand in size

116
Q

T/F

Rarely REM can turn into LE or MF

A

True

117
Q

What are the associations of Reticular erythematous mucinosis (REM)?

A

Hyper or hypothyroidism
DLE
Carcinoma
Thrombocytopenic purpura

118
Q

T/F

Reticular erythematous mucinosis (REM) can turn into scleromyxoedema

A

False

119
Q

T/F

Hydroxyxhloroquine is an effective Rx for Reticular erythematous mucinosis (REM)

A 
True
HCQ clears in 1-2 months
UVA1 2nd line
NB steroids dont work
should photoprotect
120
Q

T/F

Reticular erythematous mucinosis (REM) requires lifelong therapy

A

False
often responds to HCQ
Can resolve spontaneously after many years
but long term f/u if doesn’t clear as may get MF

121
Q

T/F

Self-healing cutaneous mucinosis mainly affects adults

A

False

mainly children, rarely adults

122
Q

What are the causes of scleredema?

A 
3 major causes;
•Recent (febrile) infection (65-90%)
- especially Streptococcal
• Diabetes mellitus (‘scleredema diabeticorum’      
      scleredema of Buschke’)
- Obese middle-aged men
- Insulin-dependent DM 
• Monoclonal gammopathy
- Usually IgG-kappa or IgA

Other infections can trigger scleredema;
influenza, measles, mumps, scarlet fever, impetigo, cellulitis, pharyngitis, HIV
and other condtions;
RA, Sjogren’s, hyperparathyroidism, malignant insulinoma, multiple myeloma

123
Q

T/F

Increased fibroblast numbers are seen in scleredema

A

False
No increased number of fibroblasts
(in contrast to scleromyxedema)

124
Q

T/F

In scleredema caused by diabetes controlling hyperglycaemia makes the scleredema improve

A

False
Control of hyperglycemia dose NOT influence skin
But in the other types treating the infection or monoclonal gammopathy can improve the skin

125
Q

What are the systemic features of scleredema?

A 
Systemic manifestations (in all forms):
• Serositis (pleural and pericardial effusions)
• Dysarthria and dysphagia
• Myositis, parotitis 
• Ocular (e.g. ophthalmoplegia)
• Cardiac (muscle involvement – CCF)
• Parotitis
126
Q

T/F

scleredema sometimes persists for years?

A

True
post infection type resolves most quickly; months to years
Other types often last indefinitely

127
Q

What are the treatments for scleredema?

A 
Bath or cream PUVA 1st line
UVA1 2nd line 
nbUVB
High dose IV penicillin
CsA 5mg/kg
128
Q

T/F

Methotrexate is effective in scleredema

A

False

129
Q

T/F

50% of follicular mucinosis is associated with lymphoma

A

False

0nly 15-30%

130
Q

T/F

alopecia is always present in follicular mucinosis (alopecia mucinosa)

A

False

not always

131
Q

T/F

A lymphoma in follicular mucinosis is always T cell

A

False

usually T cell but can be B cell

132
Q

T/F

Lymohoma cases of follicular mucinosis affect a younger age group than benign cases

A

False
• Benign cases present in slightly younger average age group
– 2-75 range peak ages 20-40
• Lymphoma type pts can be 20-70, peak age 45

133
Q

What are the types of follicular mucinosis?

A

3 groups – 2 benign and 1 lymphoma-associated;

  1. Most cases – solitary or few lesions, develop in wks, clear in 2 months to 2 years
  2. Persistant or progressive lesions, lasts years
  3. lymphoma associated type – lymphoma present from outset – histo can be subtle though
134
Q

T/F

Follicular mucinosis is mainly found on the trunk

A

False

Mainly scalp, face, neck, shoulders

135
Q

T/F

In follicular mucinosis a monoclonal TCR gene rearrangement indicated lymphoma type

A

False
Is suggestive but not diagnsotic
even if monclonal on TCR can still be benign

136
Q

What are the histological findings of follicular mucinosis?

A

Cystic space forms in outer root sheath and seb gland and mucin accumulates in space
Follicle can be destroyed leaving cyst w/ mucin and degenerate root sheath cells
Benign forms have many eos
lymphoma type has many (atypical) lymphocytes and histo features of MF

137
Q

What is treatemnt ladder for follicular mucinosis?

A 
No Rx is an option
1st line
•	TCS
•	ILCS
•	Dapsone
•	Minocycline
2nd line
•	PUVA or UVA1
•	Indomethacin
•	Isotretinoin
•	HCQ
•	PDT
•	Superficial XRT
•	Low dose pred if very itchy
•	IFN +/- acitretin
138
Q

T/F

Macular and lichen amyloidosis are due to AA amyloid

A

False

Macular and lichen amyloidosis of the skin have altered cytokeratins as the main fibrillar protein

139
Q

T/F

Nodular amyloid of skin or elsewhere has AL fibrillar protein

A

True

140
Q

How are amyloidoses classified?

A 
Can think of Amyloid as
Localized - Cutaneous
 - Primary 
 - Secondary
Systemic
 - Primary
 - Secondary
141
Q

What is amyloid?

A

Amyloid is a term for a family of biochemically unrelated proteins which may be deposited extracellularly and cause tissue dysfunction
• Deposits of amyloid contain one of several fibrillar proteins along with Amyloid P component which prevents proteolysis of the amyloid fibrils, and also associated extracellular matrix components such as GAGs and proteoglycans
• Many types of amyloid have ‘AA’ or ‘AL’ proteins as the main fibrillar protein

142
Q

What are the types of Primary (localized) cutaneous amyloidosis (PLCA)?

A

Macular amyloidosis
Lichen amyloidosis (AKA papular amyloidosis)
Biphasic (Macular & Lichen/papular together)
Nodular
Dyschromic

143
Q

What conditions are associated with lichen amyloidosis?

A 
Lichen and macular amyloidosis have same associations
Genoderms - Mach Likes Pashing 2 Mens Dysko Palms 
o	Pachyonychia congenita
o	Dyskeratosis congenita
o	Familial PPKs
o	MEN 2A
Autoimmune
o	PBC (primary biliary cirrhosis)
o	Scleroderma
o	SLE
o	Dermatomyositis
144
Q

T/F

Nodular amyloidosis is associated with SLE and Dermatomyositis

A

False

Nodular amyloidosis is associated with Sjogren’s and diabetes and monclonal gammopathy

145
Q

T/F

Priamry cutaneous amyloidosis is always acquired

A

False
Dyschromic amyloidosis (amyloidosis cutis dyschromia)
o Rare congenital variant of primary cutaneous amyloidosis
o Characteristic macular and/or papular lesions with a guttate leukoderma on a background of hyperpigmentation on sun exposed skin
o May be hypersensitivity to UVB

146
Q

T/F

Macular amyloidosis is most commonly seen in young adult women

A

True

147
Q

T/F

Macular amyloidosis has a rippled appearance of hyperpigmentation

A

True

148
Q

T/F

Macular amyloidosis occurs on the back most often and also the chest and buttocks

A

True

149
Q

T/F

Macular amyloidosis can be pruritic or asymptomatic

A

True

150
Q

T/F

There is clinical overlap between macular amyloidosis of scapular area and pigmented notalgia paraesthetica in same area

A

True

151
Q

T/F

Macular amyloidosis is the most common type of priamry cutaneous amyloidosis

A

False

Lichen amyloidosis is most common

152
Q

T/F

Lichen amyloidosis is always pruritic

A

True

153
Q

T/F

Lichen amyloidosis occurs unilaterally or symmetrically on extensor surfaces

A

True
Yes starts unilateral then may becomes bilateral and usually on extensors
can affect anal or sacral regions esp in oriental men

154
Q

T/F

Nodular amyloid affects women more than men

A

False
M=F but nod amyloid is rare overall
macular amyloid affects women more

155
Q

T/F

Nodular amyloid is a type of extramedullary plasmacytoma

A

True

The AL fibrillar protein is produced by a local abnormal clonal expansion of plasma cells

156
Q

T/F

Nodular amyloid has a 35% risk of having or developing systemic amyloidosis

A

False

about 7% risk but need long term f/u

157
Q

What are the histo features of nodular amyloidosis?

A

Diffuse deposition of amyloid in dermis, subcutis and blood vessel walls
May be plasma cell infiltrate in perivascular distribution
Should do amyloid stains and light chain immunostains

158
Q

T/F

topical steroids are ineffective in treating cutaneous amyloidosis

A

False
Potent TCS under occlusion are first line
Can combine with sal acid as keratolytic for lichen amyloidosis
Tacrolimus 0.1% ung – good topical 2nd line choice

159
Q

T/F

Physical treatments are of use in cutaneous amyloidosis

A 
True
o	ILCS
o	UVB
o	PUVA
o	Dermabrasion
o	Ablative CO2 laser
o	QS KTP laser
o	PDL
NB Acitretin 0.5mg/kg- 1st line systemic but topicals and physical Rx may be better than oral medication
• For nodular lesions consider;
o	Excision +/- graft
o	Shave or C&C
o	Cryo
o	Electrodessication
o	Ablative CO2 laser; PDL has also been used
160
Q

T/F

Primary systemic amyloidosis is most often associated with a plasma cell dyscrazia including myeloma

A

True

161
Q

T/F

Skin involvement is rare in primary systemic amyloidosis

A

False

common

162
Q

T/F

Skin involvement is rare in secondary systemic amyloidosis with a chronic inflammatory or infectious disease

A

True

163
Q

T/F

macroglossia + clubbing is a classic presenting combination in systemic amyloidosis

A

False

macroglossia + carpal tunnel syndrome

164
Q

Which dermatologic disease can cause secondary systemic amyloidosis?

A

Psoriasis/ chronic pustular psoriasis
Hidradenitis suppuritiva
Dystrophic EB

165
Q

Other than dermatologic disease what can cause secondary systemic amyloidosis?

A 
RA
Ankylosing spondylosis
Scleroderma
Dermatomyositis
SLE
Lepromatous leprosy
TB
166
Q

What are the types of porphyria?
which affect skin?
which are the ‘bullous porphyrias’

A

‘A Very Hot PEC’
Acute attacks only
- Acute intermittent porphyria (AIP)
Cutaneous disease and acute attacks
- Variegate porphyria (VP)
- Hereditary coproporphyria (HC)
Cutaneous disease only
- Porphyria cutanea tarda (PCT) (+ Hepatoerythropoietic porphyria (HEP): homozygous form of familial PCT)
- Erythropoieic protoporphyria (EPP)
- Congenital erythropoietic porphyria (CEP)
(note this is not the order they arise in when arranged by their enzymes in the haem pathway)
All affect skin except AIP
- there are some other v rare porphyrias which do not affect skin
All cutaneous porphyrias except EPP are bullous porphyrias

Medical dermatology Dan (41 decks)

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