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Dermatology > Sec 24 Skin in Nutritional, Metabolic and Heritable Disease Pt 1 > Flashcards

Sec 24 Skin in Nutritional, Metabolic and Heritable Disease Pt 1 Flashcards

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1
Q

Clinical features of Marasmus

A 
Affects infants <1 year
Failure to thrive
Dry, thin, loose, wrinkled skin
Hair loss; fine brittle hair; alopecia 
Fissuring and impaired growth of nails 
Loss of subcutaneous fat and muscle mass 
Loss of buccal fat (monkey facies)
Rectal prolapse, abdominal distension
Diarrhea, constipation
Angular cheilitis
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2
Q

Clinical features of Kwashiokor

A

Affects children between 6 months and 5 years
Failure to thrive, edema
Irritability, lethargy, apathy
Generalized dermatitis - “flaking enamel paint,” “cracked pavement”
Increased pigmentation on arms and legs
Hair color changes (red tint → gray–white; “flag sign”)
Distension of abdomen

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3
Q

Skin manifestations of Essential Fatty Acid Deficiency

A 
Xerosis 
Scaly erythema, intertriginous erosions 
Traumatic purpura, poor wound healing 
Brittle nails, alopecia 
Hyper- and hypopigmentation of hair
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4
Q

Ocular manifestations of Vitamin A deficiency

A

Impaired dark adaption Xerophthalmia
Corneal xerosis, ulceration, keratomalacia
Corneal perforation, blindness

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5
Q

Mucocutaneous manifestations of Vitamin A deficiency

A

Xerosis
Dermatomalacia (skin fissuring)
Phrynoderma

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6
Q

Mucosal manifestations of Vitamin A deficiency

A

Xerostomia
Hypotonia
Hypogeusia

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7
Q

Manifestations of Vitamin A toxicity

A

Dry, scaly skin with desquamation
Peeling of palms and soles, follicular hyperkeratosis
Cheilitis, fissuring of lips and angles of mouth
Alopecia
Anorexia, nausea, vomiting
Myalgias, arthralgias
Blurred vision, pseudotumor cerebri
Skeletal changes: premature closure of the epiphyses, spontaneous bone fractures

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8
Q

Rickets

A 
Rachitic rosary
Craniotabes, frontal bossing 
Lateral bowing of lower extremities 
Widening of wrists, scoliosis, fractures 
Dental defects 
Rarely hypocalcemic seizures
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9
Q 
Chromosome 12q14
Mutations in Vitamin D receptor
End-organ unresponsiveness to Vitamin D
Atrichia with papilla and milia + eyebrows/eyelashes
Alopecia by 1-3 months of age
A

Vitamin D-resistant Rickets Type I

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10
Q 
Chromosome 8p12
Mutations in human hairless gene
Defect in Cartagena remodeling
Atrichia with papules and milia; + eyebrows/eyelashes
Alopecia by 40 days to 4 months
A

Generalized atrichia

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11
Q

Acute signs of Riboflavin deficiency

A

Erythema
Epidermal necrolysis
Mucositis

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12
Q

Chronic signs of Riboflavin deficiency

Ariboflavinosis

A

Angular stomatitis
Cheilosis with erythema, xerosis, and fissuring
Glossitis
Seborrheic dermatitis-like dermatitis (typical sites and flexural areas of limbs and genitalia)
Dyssebacia (plugging of sebaceous glands)
Photophobia and conjunctivitis

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13
Q

Skin manifestations of Scurvy

A 
Follicular keratotic plugging 
Corkscrew hairs 
Perifollicular purpura 
Lower extremity edema with ecchymosis 
Poor wound healing and dehiscence
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14
Q

Mucosal manifestations of Scurvy

A

Swelling, ecchymoses, and bleeding of gingiva

Hemorrhagic gingivitis, necrosis, loss of teeth

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15
Q

Cutaneous findings in Iron deficiency

A

Nails: Fragile, longitudinally ridged
Lamellated brittle nails → thinning, flattening of nail plate, koilonychia
Hair: Lusterless, dry, focally narrow and split hair shafts, heterochromia of black hair. Hair loss.
Mucous membranes: Aphthous stomatitis, angular stomatitis, glossodynia, atrophied tongue papillae
Blue sclerae
Pruritus

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16
Q

Clinical features of Acrodermatitis Enteropathica

A

Eczematous and erosive dermatitis (periorificial and acral areas)
Alopecia
Diarrhea
Lethargy, irritability
Whining and crying
Superinfection with Candida albicans and Staphylococcus aureus

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17
Q

Clinical presentation of Noma

A

Rapid progression of soreness of mouth, halitosis, purulent oral discharge, tenderness of lips and cheeks
Necrotizing stomatitis starting at alveolar margin and extending to mucosal surface of cheek Swelling and blue–black discoloration of cheek → cone-shaped black necrosis, tissue destruction, and ulceration

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18
Q

Key finding in PEM which appear first as wasting then stunting

A

Failure to thrive

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19
Q

Poor weight gain

A

Wasting

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20
Q

Decreased rates of linear growth

A

Stunting

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21
Q

Earliest manifestation of Vitamin A deficiency

A

Ocular changes

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22
Q

Alternate bands of light- and dark-colored within the hair shaft

A

Flag sign

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23
Q

Indicator of protein energy wasting

A

Elevated soluble CD14

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24
Q

Derivative of linoleic converted into prostaglandins, eicosanoids, and leukotrienes

A

Arachidonic acid

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25
Q

Two most clinically important metabolites of Vitamin A

A
  1. Retinal

2. Retinoic acid

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26
Q

White patches on the sclera from corneal keratin desquamation and overgrowth

A

Bitot spots

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27
Q

Severe deficiency in VAD manifesting as deep skin fissuring

A

Dermomalacia

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28
Q

Water-soluble form of Vitamin A that is not absorbed or hydrolyzed to retinoic acid in Vitamin A replete humans

A

Retinoyl glucoronide

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29
Q

Recommended daily allowance of Vitamin A

A

1,000-5,000 IU

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30
Q

Recommended treatment for VAD

A

100,000-300,000 IU

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31
Q

Acute Vitamin A toxicity

A

20x RDA - child

100x RDA - adult

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32
Q

Chronic Vitamin A toxicity

A

> 25,000 IU for more than 6 years

>100,000 IU for more than 6 months of preformed

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33
Q

Early cutaneous sign of Vitamin A toxicity

A

Dryness of the lips

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34
Q

Benign disorder characterized by yellow-orange skin pigmentation

A

Carotenemia

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35
Q

Carotene deposits here because of high lipid content

A

Stratum corneum

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36
Q

Carotenemia

A

3-4x normal levels or >250 ug/dL

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37
Q

Essential for regulation of calcium and phosphorus metabolism by acting on the GI tract to increase calcium and phosphate absorption, by stimulating bone resorption of calcium and phosphate, and by stimulating renal tubules to increase reabsorption of calcium and phosphate

A

Vitamin D

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38
Q

Vitamin important in retinal photoreceptor function, epithelial proliferation, and keratinization

A

Vitamin A

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39
Q

Vitamin D can be synthesized in the epidermis from this precursor

A

7-dehydrocholesterol

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40
Q

Autosomal recessive defect in renal vitamin D-1-a-hydroxylase treated with supplements of 1,25-hydroxyvitamin D

A

Type I Rickets

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41
Q

Rare autosomal recessive end-organ resistance to physiologic levels of 1,25-hydroxyvitamin D treated with supplementation of high doses of 1,25-hydroxyvitamin D

A

Type II Rickets

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42
Q

Fraying and widening of the metaphysis in the costochondral junctions of the anterior ribs seen in Vitamin D deficients

A

Rachitic rosary

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43
Q

Poor calcification of the skull bones giving a ping-pong ball feel seen in Vitamin D deficients

A

Craniotabes

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44
Q

Early radiographic signs of rickets

A

Widening of the epiphyseal plate

Blurring of the epiphyseal and metaphyseal junction

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45
Q

Potentially fatal manifestation of vitamin D deficiency

A

Dilated cardiomyopathy

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46
Q

RDA of Vitamin D

A

5-10 ug

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47
Q

Treatment for Vitamin D deficiency

A

200-400 ug daily for 2-3 months

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48
Q

Fat-soluble vitamin that excessive intake may augment effects of anti-coagulant medications

A

Vitamin E

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49
Q

Rare autosomal recessive severe spinocerebellar neurodegenerative disorder with mutations in a-tocopherol transfer

A

Ataxia with isolated Vitamin E

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50
Q

Necessary cofactor in the carboxylation of glutamate residues on coagulation factors II, VII, IX, X and proteins C and S

A

Vitamin K

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51
Q

Vitamin K deficiency in neonates leading to impaired coagulation and hemorrhage

A

Hemorrhagic Disease of the Newborn (HDN)

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52
Q

Unexpected bleeding from severe Vitamin K deficiency in 2-12 week old infants who are primarily breastfed and receive no or inadequate Vitamin K prophylaxis

A

Late HDN

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53
Q

Lab findings in Vitamin K deficiency

A

Increased PT

Increased aPTT

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54
Q

Abnormal “protein induced by vitamin K absence” (PIVKA)

A

des-g-carboxyprothrombin (DCP)

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55
Q

Neonatal prophylaxis of Vitamin K

A

0.5-1.0 mg

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56
Q

Acute treatment for Vitamin K deficiency

A

Fresh frozen plasma

5-10mg Vitamin K Parenteral or IM

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57
Q 
Vitamin B1
Vitamin B2
Vitamin B3
Vitamin B6
Vitamin B9
Vitamin B12
A 
Thiamine
Riboflavin
Niacin
Pyridoxine
Folate
Cobalamin
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58
Q

Essential co-enzyme in:

  1. NADPH synthesis
  2. Carbohydrate metabolism
  3. Deoxyribose and ribose synthesis
A

Vitamin B1

  1. NADPH synthesis - transketolase
  2. Carbohydrate metabolism - pyruvate dehydrogenase
  3. Deoxyribose and ribose synthesis - a-ketoglutarate dehydrogenase
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59
Q

Thiamine deficiency state arising in chronic alcoholism

A

Beriberi

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60
Q

Early signs of Beriberi

A

Irritability, apathy, restlessness, vomiting

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61
Q

Classic manifestation of infantile beriberi

A

aphonia - laryngeal nerve paralysis

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62
Q

Symmetric distal peripheral neuropathy involving both sensory and motor systems

A

Dry beriberi

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63
Q

Neuropathy and signs of cardiac involvement (cardiomegaly, cardiomyopathy, congestive heart failure, peripheral edema, tachycardia), rarely pulmonary hypertension, peripheral edema and painful burning tongue

A

Wet beriberi

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64
Q

Diagnosis of thiamine deficiency

A

Erythrocyte thiamine transketolase

Blood thiamine transketolase

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65
Q

Thiamine RDA

A

0.5 mg per 1,000 kcal

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66
Q

Used in oxidation-reductions in cellular respiration and oxidative phosphorylation

A

Riboflavin as 2 coenzymes:

  1. Flavin mononucleotide
  2. Flavin-adenine dinucleotide
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67
Q

Diagnosis for Riboflavin

A

Screening: Erythrocyte glutathione reducatase activity
Confirm: Trial of riboflavin supplementation

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68
Q

RDA Riboflavin

A

0.6 mg per 1,000 kcal

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69
Q

Treatment for Riboflavin deficiency

A

1-3 mg (infants and children)

10-20 mg (adults)

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70
Q

Vitamin cofactor that can be obtained for the diet or synthesized endogenously from tryptophan

A

Niacin
Exists as:
1. Nicotinamide adenine dinucleotide (NAD)
2. Nicotinamide adenine dinucleotide phosphate (NADP)
to Nicotinamide
to Nicotinic acid

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71
Q

Deficiency in niacin

A

Pellagra

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72
Q

Rare autosomal recessive disorder with pellagra-like symptoms in childhood caused by defect in neutral brush border system resulting in malabsorption of amino acids

A

Hartnup disease

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73
Q

Metabolic disorder where 60% of tryptophan is converted to serotonin

A

Carcinoid syndrome

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74
Q

Medications that can induce pellagra symptoms

A 
Isoniazid
5-Fluorouracil
6-mercaptopurine
phenytoin
chloramphenicol
azathioprine
sulfonamides
antidepressants
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75
Q

Pellagra 4D

A
  1. Dermatitis - painful erythematous pruritic patches in photodistributed areas
  2. Diarrhea
  3. Dementia
  4. Death
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76
Q

Diagnosis of pellagra

A

Measurement of urinary metabolites

  1. N-methynicotinamide
  2. Pyridone
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77
Q

Treatment of pellagra

A

500 mg per day

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78
Q

RDA of Vitamin B3

A

15-20mg niacin

60 mg tryptophan

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79
Q

Most common form of Vitamin B6

A

Pyridoxal-5-phosphate

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80
Q

Medications causing Pyridoxine deficiency

A

Isoniazid
Hydralazine
Penicillamine
OCP

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81
Q

RDA Vitamin B6

A

2mg adult males

  1. 6mg adult females
  2. 3mg infants
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82
Q

Treatment of pyridoxine deficiency

A

100mg pyridoxine per day

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83
Q

Medications implicated in folate deficiency

A 
Methotrexate
Trimethoprim
OCP
Pyrimethamine
Phenobarbital
Phenytoin
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84
Q

Treatment of folate deficiency

A

1-5mg folic acid

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85
Q

Important coenzyme for

  1. DNA protein and lipid metabolism and
  2. fat and carbohydrate metabolism
A

Cobalamin

  1. methycobalamin
  2. 5’-adenosylcobalamin
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86
Q

Deficiency in Vitamin B12 from malabsorption

A
  1. Decreased gastric acid states leaving more b12 food-bound
  2. Decreased intrinsic factor
  3. Microbial competition in the gut
  4. Impaired absorption
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87
Q

Atrophic red and painful tongue with atrophy of the filiform papillae

A

Hunter’s glossitis

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88
Q

Hyperpigmentation in Vitamin B12 most commonly affects

A

palmar creases
flexural regions
pressure points

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89
Q

Cobalamin deficiency diagnosis

A

Measure serum cobalamin levels

<200 pg/mL

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90
Q

Treatnment of Cobalamin deficiency

A

1mg per week for 1 month cyanocobalamin then 1mg every month

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91
Q

Antioxidant and essential cofactor in several biological reactions (collagen biosynthesis, prostaglandin metabolism, fatty acid transport, norepinephrine synthesis)

A

Vitamin C

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92
Q

Vitamin C deficiency

A

Scurvy

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93
Q

Scurvy 4H

A
  1. Hemorrhagic signs
  2. Hyperkeratosis of hair follicles
  3. Hypochodriasis
  4. Hematologic abnormalities
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94
Q

Radiograph: metaphyseal spurs with marginal fractures

A

Pelkan sign

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95
Q

Radiograph: a ring of increased density surrounding the epiphysis

A

Wimberger sign

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96
Q

Radiograph: widening of the zone of provisional calcification

A

White line of Frankl

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97
Q

Radiograph: transverse band of radiolucency in the metaphysis

A

Scurvy line or Trummerfeld zone

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98
Q

RDA Vitamin C

A

40-60mg

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99
Q

Therapeutic dose of Vitamin C

A

100-300mg

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100
Q

Biotin as coenzyme

A
  1. acetyl-CoA carboxylase - FA synthesis and lipogenesis
  2. pyruvate carboxylase - gluconeogenesis
  3. propionyl-CoA carboxylase
  4. 3-methylcrotonyl-CoA carboxylase
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101
Q

Associated with defect in holocarboxylase synthetase with symptoms developing during first 6 weeks of life presenting with bright red scaling dermatosis on scalp, eyebrows, and eyelashes typically fatal

A

Neonatal (early onset) form Multiple carboxylase deficiency

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102
Q

Presents after 3 months of age caused by biotidinase deficiency with scaly erythematous perioroficial dermatitis may have irreversible sensorineural hearing loss and reversible metabolic encephalopathy

A

Juvenile (infantile or late onset) form Multiple carboxylase deficiency

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103
Q

RDA Biotin

A 
30 ug (neonates)
100-200 ug (adults)
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104
Q

Treatment Biotin deficiency

A

150 ug acquired
10-40 mg holocarboxylase deficiency
5-10 mg biotinidase deficiency

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105
Q

X-linked syndrome of neurologic disorder (loss of developmental milestones, hypotonia, seizures), failure to thrive, steel wool appearance of hair, depressed nasal bridge, ptosis and reduced facial movements

A

Menkes disease - MNK gene

106
Q

Selenium deficiency associated with multifocal myocarditis leading to fatal cardiomyopathy seen in women and young children

A

Keshan disease

107
Q

Selenium deficiency associated with osteoarthropathy that affects the epiphyseal and articular cartilage and epiphyseal growth plates, resulting in enlarged joints and shortened fingers and toes

A

Kaschin-Beck disease

108
Q

Used in several biological pathways including heme synthesis, oxidation-reduction reactions and collagen synthesis

A

Iron

109
Q

Important micronutrient that is an essential component of many metalloenzymes important in protein and nucleic acid synthesis

A

Zinc

110
Q

Rare autosomal recessive disorder of zinc absorption with defect in intestinal zinc transporter human ZIP4 protein encoded on SLC39A4 gene

A

Acrodermatitis Enteropathica

111
Q

Treatment zinc deficiency

A

0.5-1.0 mg/kg children

15-30 mg adults

112
Q

AR presents with characteristic psoriasiform dermatitis on trunk and extremities with diffuse alopecia and brittle hair associated with poor feeding, lethargy, hypotonia, vomiting and dehydration

A

Acrodermatitis acidemica

113
Q

Semiessential AA derived from phenylalanine starting point for synthesis of cathecholamines, thyroid hormones, and melanogenesis

A

Tyrosine

114
Q

Rare AR distinctive clinical symptom complex involving the eyes (lead to permanent visual impairment), skin (hyperkeratotic yellowish skin on pressure-bearing areas which are painful non pruritic) and CNS (mental retardation)

A

Tyrosinemia type II

Richner-Hanhart syndrome

115
Q

Ophthalmologic features of Tyrosinemia type II

A

early - tearing, redness, pain and photophobia

late - corneal clouding and central or paracentral opacities

116
Q

Urinary tyrosine metabolites

A

p-hydroxyphenylpyruvic acid
p-hydroxyphenyllactic acid
p-hydroxyphenylacetic acid
N-acetyltyrosine

117
Q

AR disorder of aromatic AA metabolism caused by deficiency of phenylalanine hydroxylase presents with mental retardation, diffuse hypopigmentation, seizures, eczematous dermatitis and photosensitivity

A

Phenylketonuria

118
Q

Disease - deficient enzyme:
Ochronosis
Dark urine (when pH is above 7)
Black cerumen, eccrine, and apocrine secretions
Scleral pigmentation (triangular)
Xray: marked intervertebral disk calcification

A

Alkaptonuria - Homogentisic acid oxidase (AR)

119
Q 
Disease - deficient enzyme:
Trichorrhexis nodosa 
Rough skin
Hepatomegaly
Mental retardation
A

Argininosuccinic aciduria - Argininosuccinase (AR)

120
Q 
Disease - deficient enzyme:
Thick skin 
Coarsening of face
Sagging skinfolds 
Increased acne 
Photosensitivity
A

Aspartylglycosaminuria - Aspartylglycosamidase (AR)

121
Q 
Disease - deficient enzyme:
Erythematous rash 
Alopecia
Oral candidiasis 
Seborrheic dermatitis 
Glossitis
A

Biotinidase deficiency - Biotinidase (AR)

122
Q

Disease - deficient enzyme:
Light, short hair with interrupted cuticle
Somatic and metal retardation
Ammonia intolerance

A

Citrullinemia - Argininosuccinate synthetase (AR)

123
Q

Disease - deficient enzyme:
Pellagra-like lesions
Photosensitivity

A

Hartnup Disease - Defect of neutral amino acid transport in renal and intestinal brush border (AR); increases excretion of tryptophan metabolites

124
Q

Disease - deficient enzyme:

Light-colored hair and eyes

A

Histidinemia - Histidase (AR)

125
Q

Disease - deficient enzyme:
Seborrheic dermatitis
Alopecia

A

Holocarboxylase synthetase deficiency - Holocarboxylase synthetase (AR)

126
Q 
Disease - deficient enzyme:
Fine, sparse, friable hair 
Thin skin
Livedo reticularis
Malar flush
Vascular occlusions 
Marfanoid habitus
A

Homocystinuria - Cystathionine B-synthetase (AR)

127
Q

Disease - deficient enzyme:
Chronic stomatitis
Ulcerated gums, gingivitis
Photosensitivity

A

Hydroxykynureninuria - Kynureninase (AR)

128
Q

Disease - deficient enzyme:

Ichthyosis

A

Hyperprolinemia - Proline oxidase (AR)

129
Q

Disease - deficient enzyme:
Chronic skin ulcers
Recurrent infections

A

Iminodipeptiduria (prolidase deficiency) - Prolidase (AR)

130
Q

Disease - deficient enzyme:

Odor of sweaty feet, alopecia

A

Isovaleric acidemia - Isovaleryl-coenzyme A dehydrogenase (AR)

131
Q

Disease - deficient enzyme:
White hair
Dried celery or oasthouse odor
Edema

A

Methionine malabsorption syndrome - Defective methionine transport

132
Q

Disease - deficient enzyme:
Hypopigmentation
Atopic dermatitis
Scleroderma

A

Phenylketonuria -
Phenylalanine hydroxylase (AR)
Dihydropterine reductase
Defective dihydropterine synthesis

133
Q

Disease - deficient enzyme:
Painful, acral erosions
Hyperkeratosis
Corneal/conjunctival plaques and erosions

A

Tyrosinemia II - Tyrosine aminotransferase (AR)

134
Q

Disease - deficient enzyme:

Urticaria

A

Xanthurenic aciduria - Kynureninase (AD)

135
Q

Caused by extra cellular deposition of insoluble abnormal fibrils derived from aggregation of misfolded proteins

A

Amyloidosis

136
Q

Most common type of systemic amyloidosis more than 60% of cases, and may occur in association with any monoclonal B cell dyscrasia may present with macroglossal and periorbital ecchymoses

A

AL amyloidosis

137
Q

Derived from monoclonal immunoglobulin light chains and consist of the whole or part of the VL domain

A

AL fibrils

138
Q

An apolipoprotein of HDL which like CRP is synthesized by hepatocytes under the transcriptional regulation of cytokines

A

Serum amyloid A protein

139
Q

Most common cause of hereditary amyloidosis causes FAP thus presenting with progressive severe peripheral and/or autonomic neuropathy sometimes with cardiac involvement

A

Transthyretin TTR systemic amyloidosis

140
Q

Potential complication of any disorder associated with a sustained acute phase response can be inflammatory (95%), infective or neoplastic disorder with nephrotic syndrome in 50% of cases

A

AA amyloidosis

141
Q

Systemic amylodosis with cutaneous findings of petechiae and purpura on eyelids, beard area and upper chest, xanthomatous papules or plaques and amyloidotic hyperpigmented keratotic lesions

A

AL amyloidosis

142
Q

Hereditary amyloidosis with petechial eruptions

A

Lysozyme amyloidosis

143
Q

Hereditary amyloidosis with yellowish infiltrated plaques and acanthosis nigricans-type lesions

A

Apolipoprotein AI amyloidosis

144
Q

Usually affects upper back and limbs which can persist for many years with pruritic small brownish macules distributed in a rippled pattern with female preponderance

A

Macular amyloidosis

145
Q

Histopathology: Macular amyloidosis

A

Amyloid deposits confined to the papillary dermis later coalescing expand the papillae and displace the rete ridges laterally

146
Q

Most common type of cutaneous amyloidosis in Chinese individuals characterized by intensely pruritic eruption of multiple discrete hyperkeratotic paules that coalesce to form gray-brown plaques distributed on the extensor surfaces of the lower extremities spreading to the extensor aspects of arms and trunk

A

Lichen amyloidosis

147
Q

Rare syndrome in Japanese and Chinese males in which pigmented macules and glossy hyperkeratotic lesions raduate out from anus

A

Anosacral cutaneous amyloidosis

148
Q

A rare complication of long-term insulin use in diabetics at sites of repeated insulin injection

A

Insulin-derived amyloidosis

149
Q

Very rare AD disorder characterized by chronic pruritus from childhood or early teenage years and hyperkeratotic papules and/or hyperpigmented macules on limbs or trunk associated with mutations in OSMR and IL31RA

A

Familial primary localized cutaneous amyloidosis

150
Q

Observed when tissue stained with aniline dye Congo red is viewed under cross-polarized light in amyloidosis

A

Red-green dichroism

151
Q

T or F: Immunohistochemistry is definitive for AL amyloidosis

A

False

Immunohistochemistry is definitive for AA amyloidosis

152
Q

This safe noninvasive method can be used for diagnosis and quantitative monitoring of amyloid deposits

A

SAP scintigraphy

153
Q

Presenting feature and ultimate cause of death in AL amyloidosis

A

Restrictive cardiomyopathy

154
Q

Hereditary amyloidosis with characteristic clinical picture of corneal lattice dystrophy and cranial neuropathy

A

Gelsolin-related amyloidosis

155
Q

Treatment of choice to prevent AA amyloidosis in FMF

A

Colchicine

156
Q

Periarticular and, occasionally, systemic amyloidosis associated with long-term dialysis

A

Aβ2M Amyloidosis

β2-microglobulin

157
Q

Senile systemic amyloidosis with prominent cardiac involvement

A

ATTR Amyloidosis

Normal plasma transthyretin

158
Q

Autosomal dominant systemic amyloidosis Familial amyloid polyneuropathy

A

ATTR Amyloidosis

Genetically variant transthyretin

159
Q

Hereditary cerebral hemorrhage with cerebral and systemic amyloidosis

A

ACys

Genetically variant cystatin C

160
Q

Systemic amyloidosis with predominant renal involvement

A

ALECT2

Leukocyte cell-derived chemotaxin-2 Systemic amyloidosis with predominant renal involvement (LECT2)

161
Q

Autosomal dominant systemic amyloidosis

Non-neuropathic with prominent liver and renal involvement

A

ALys

Genetically variant lysozyme

162
Q

Autosomal dominant systemic amyloidosis

May be neuropathic, prominent liver and renal involvement

A

AApoAI

Genetically variant apolipoprotein AI

163
Q

Autosomal dominant systemic amyloidosis Non-neuropathic with prominent renal involvement

A 
AApoAII
Genetically variant apolipoprotein AII
or
AFib
Genetically variant fibrinogen A α chain
164
Q

IL-1-mediated Monogenic Autoinflammatory Syndromes

A

Familial Cold Autoinflammatory syndrome (FCAS)
Muckle–Wells syndrome (MWS)
Neonatal-onset Multisystem Inflammatory Disease (NOMID)
Deficiency of the IL-1-receptor Antagonist (DIRA)

165
Q

Partially IL-1-mediated Monogenic Autoinflammatory Syndromes

A

Familial Mediterranean Fever (FMF)
Hyperimmunoglobulin D syndrome (HIDS)
Mevalonic aciduria (MA)
Pyogenic Arthritis, Pyoderma gangrenosum, and Acne syndrome (PAPA)

166
Q

Other Monogenic Autoinflammatory Syndromes

A

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
Pediatric granulomatous arthritis (PGA)
Majeed’s syndrome
Early-onset in ammatory bowel disease (IBD)

167
Q

Cryopyrinopathies

A
  1. Familial Cold Autoinflammatory syndrome (FCAS)
  2. Muckle–Wells syndrome (MWS)
  3. Neonatal-onset Multisystem Inflammatory Disease (NOMID)
168
Q

Cryopyrinopathies are autosomal dominant disorders with gain of function mutations in

A

NLRP3/CIAS1

169
Q

Cryopyrin and adaptor proteins form this multimolecular complex that activates caspase-1, an ezyme that cleaves pro-IL-1B into IL-1 fragment

A

NLRP3 inflammasome

170
Q

Presents with fever, urticaria-like eruption that is nonpruritic, conjunctivitis, arthralgia and elevations in acute-phase reactants

A

Cryopyrinopathies

171
Q

CAP with episodes are triggered by exposure to cold temperatures or air drafts and present with fevers, eruption, joint pain, conjunctivitis and headaches that lasts for 12-48 hours then resolve which starts in early childhood

A

Familial Cold Autoinflammatory syndrome (FCAS)

172
Q

CAP with urticaria-like eruptions at birth or within hours of birth can have fevers, eruption, joint pain, conjunctivitis and headaches that are continuous and not precipitated by cold exposure; may have episcleritis, optic disc edema or sensorineural hearing loss

A

Muckle–Wells syndrome (MWS)

173
Q

CAP with urticaria-like eruptions at birth or within hours of birth with initial presentation of fevers, urticaria-like eruption, leukocytosis, elevated acute phase reactants, joint swelling, arthralgia, conjunctivitis and sensorineural hearing loss; may have CNS inflammation with aseptic leptomeningitis and neutrophilic pleocytosis

A

Neonatal-onset Multisystem Inflammatory Disease (NOMID)

174
Q

Most commonly involved in characteristic bony overgrowth in patients with NOMID

A

Epiphyses of distal femur and proximal tibia of knee

175
Q

Histopathology: Epidermis is unaffected with mild edema of papillary dermis and the superficial dermal capillaries are dilated; predominantly neutrophilic inflammatory infiltrate (neutrophilic urticaria)

A

Cryopyrinopathies (CAPS)

176
Q

Treatment: Cryopyrinopathies

A

IL-1 blocking agents

177
Q

Complications: Muckle–Wells syndrome (MWS)

A

Hearing loss

Development of amyloidosis

178
Q

Complications: Neonatal-onset Multisystem Inflammatory Disease (NOMID)

A 
Early onset hearing loss
Mental retardation
Progressive vision loss due to progressive optic nerve atrophy
Central atrophy
Severe bony overgrowth
Joint contractures
179
Q

Recombinant IL-1 receptor antagonist

A

Anakinra
FCAS: 0.5-1.5 mg/kg/day
NOMID: 6-10 mg/kg/day

180
Q

Long acting IL-1 Trap - a fusion of the IL-1 receptor and the Fc portion of IgG
(FDA approved for FCAS and MWS)

A

Rilonacept

181
Q

IL-1B-blocking antibody

FDA approved for FCAS and MWS

A

Canakinumab

182
Q

Does not respond to IL-blocking agents

A

Bony overgrowth

183
Q

AR disease caused by mutations in gene MEFV encoding pyrin

A

Familial Mediterranean Fever (FMF)

184
Q

Most common monogenic autoinflammatory disease

A

Familial Mediterranean Fever (FMF)

185
Q

Presents with 1-3 day episodes of fever with serositis, which typically consists of sterile peritonitis, pleuritis, arthritis that can last upto 1 week and eruption that can be induced by physical exertion and emotional stress

A

Familial Mediterranean Fever (FMF)

186
Q

Second most common clinical finding in FMF

A

Abdominal pain

187
Q

Most characteristic eruption of FMF but rarely present in isolation usually in the lower limbs as warm, tender, swollen erythematous plaques 10-15 cm in diameter with well-defined borders which may be bilateral initiated by prolong walking and subside within 24-48 hours

A

Erysipeloid erythema

188
Q

Histopathology: Perivascular and interstitial inflammatory infiltrate composed of neutrophils and lymphocytes in dermis with prominent edema of the papillary dermis and dilation of superficial dermal capillaries

A

Familial Mediterranean Fever (FMF)

189
Q

AR disorders caused by mutations in MVK gene which encodes mevalonate kinase, an enzyme involved in the cholesterol and isoprenoid biosynthesis pathyway

A 
Hyperimmunoglobulin D syndrome (HIDS)
Mevalonic aciduria (MA)
190
Q

Two missense mutations in HIDS

A

V377I

I268T

191
Q

Enzyme that catalyzes the first step in mevalonate metabolism, rate-limiting step in conversion from mevalonate to mevalonate phosphate and can be examined in patient’s fibroblasts, lymphocytes and lymphoblasts

A

Mevalonate kinase

192
Q

Presents with erythematous macules, papules and nodules which may be confluent or solitary and oral aphthous ulcers with fever, gastrointestinal symptoms like abdominal pain, vomiting and diarrhea (90%), articular symptoms (80%), painful axillary and/or inguinal lymphadenopathy (90%) and splenomegaly

A

Hyperimmunoglobulin D syndrome (HIDS)

193
Q

Presents with erythematous macules, papules and nodules which may be confluent or solitary and oral aphthous ulcers with febrile episodes, systemic inflammation, severe failure to thrive, lymphadenopathy, developmental delay, anemia, hepatosplenomegaly, central cataracts, dysmorphic facies, cerebellar ataxia, diarrhea and malabsorption

A

Mevalonic aciduria (MA)

194
Q

Histopathology: Perivascular neutrophilic and lymphocytic infiltrate with slight leukocytoclasis and fibrinoid changes of vessel walls

A 
Hyperimmunoglobulin D syndrome (HIDS)
Mevalonic aciduria (MA)
195
Q

Immunoflourescence of HIDS/MA

A

Perivascular deposits of IgD and Ce in granular pattern

196
Q

Definitive diagnosis for HIDS

A

Genetic testing

197
Q

T or F: Colchicine is effective for HIDS/MA

A

False

198
Q

Rare AD disorder caused by mutation in CD2BP1 on chromosome 15q24 that encodes proline-serine-threonine-phosphatase-interacting protein 1 (PSTPIP1)

A

Pyogenic Arthritis, Pyoderma gangrenosum, and Acne (PAPA) syndrome

199
Q

AD disease caused by mutations in TNFRSF1A on chromosome 12p13 that encodes TNF receptor 1 resulting from loss of cysteine residue

A

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

200
Q

Presents with fever 38-41 C for more than 3 days, disabling myalgia, abdominal pain, skin eruption, serositis, non erosive asymmetric monoarticular arthritis and eye involvement (conjunctivitis, periorbital edema)

A

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

201
Q

Characteristic skin lesions in TRAPS

A

Centrifugal migratory erythematous patch which migrates from periphery to the center

202
Q

Histopathology: Mild perivascular lymphocytic infiltrate in dermis and edema of upper dermis with C3 and C4 deposition around small vessels in dermis

A

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

203
Q

Most severe complications of TRAPS

A

Systemic AA amyloidosis

Development of renal failure

204
Q

Treatment: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

A

NSAIDs - mild attacks
Etanercept
Anakinra

205
Q

Very rare AD with mutation in gene NOD2 on chromosome 16q12 encoding NACHT-leucine-rich repeat receptors presenting with early-onset “sarcoidosis” with generalized skin eruption and arthritis and uveitis

A

Pediatric Granulomatous Arthritis
Familial - Blau syndrome
Sporadic - de novo mutations in early sarcoidosis

206
Q

Very rare AR with mutation in LPIN2 on chromosome 18p encoding lipin-2 with neutrophilic dermatosis; with chronic recurrent multifocal osteomyelitis and congenital dyserythropoeitic anemia

A

Majeed syndrome

207
Q

Treatment for chronic recurrent multifocal osteomyelitis in Majeed syndrome

A

NSAIDs or corticosteroids

208
Q

Treatment for congenital dyserythropoeitic anemia in Majeed syndrome

A

RBC transfusion

209
Q

Very rare AR with mutation in IL10RA on chromosome 11q23 encoding IL-10 receptor presenting with early onset folliculitis, enterocutaneous fistulae, perianal abscess and anocutaneous fistula

A

Early-onset inflammatory bowel disease (IBD)

210
Q

Plaques or nodules consisting of abnormal lipid deposition and foam cells in skin or tendons

A

Xanthomas

211
Q

Multiple, reddish-yellow papules that appear suddenly and are arranged in crops on the extensor surface of the extremities and the buttocks

A

Eruptive xanthomata

212
Q

Nodules that are frequently localized to the extensor surfaces of the elbows, knees, knuckles, and buttocks

A

Tuberous xanthomata

213
Q

Firm subcutaneous nodules found in fascia, ligaments, Achilles tendons, or extensor tendons of the hands, knees, and elbows

A

Tendinous xanthomata

214
Q

Yellow macules, soft papules, or plaques found commonly on the upper eyelids (xanthelasma palpebrarum), the wrists and palms (xanthoma striatum palmare), and in intertriginous areas

A

Planar xanthomata

215
Q

Treatment options for xanthelasma

A

Surgical excision
Ablative laser therapy
Trichloroacetic acid
Cryotherapy

216
Q

Macrophages that contain lipid

A

Foam cells

217
Q

Most abundant sterol in the body

A

Cholesterol

218
Q

Cholesterol is a precursor for

A

Bile acids - cholic acid and chenodeoxycholic acid

Steroid hormones - estrogen, testosterone and cortisol

219
Q

Eruptive xanthomata

A 
Familial lipoprotein lipase deficiency 
ApoC-II deficiency
ApoA-I and apoA-I/C-III deficiency 
Familial hypertriglyceridemia 
Familial hypertriglyceridemia with chylomicronemia
Obesity
Cholestasis
Diabetes
Medications: retinoids, estrogen therapy, protease inhibitors
220
Q

Tuberous xanthomata

A 
Familial hypercholesterolemia 
Familial dysbetalipoproteinemia 
Phytosterolemia
Monoclonal gammopathies 
Multiple myeloma 
Leukemia
221
Q

Tendinous xanthomata

A 
Familial hypercholesterolemia 
Familial defective apoB
Familial dysbetalipoproteinemia 
Phytosterolemia 
Cerebrotendinous xanthomatosis
222
Q

Palmar xanthomata

A

Familial dysbetalipoproteinemia

Homozygous apoA-I deficiency

223
Q

Intertriginous xanthomata

A

Familial homozygous hypercholesterolemia

Cholestasis

224
Q

Diffuse planar xanthomata

A

Familial hypercholesterolemia

225
Q

Xanthelasma

A

Familial dysbetalipoproteinemia

Monoclonal gammopathies

226
Q

Corneal arcus

A

Familial hypercholesterolemia

227
Q

Plant sterols

A

B-sitosterol

Campesterol

228
Q

Most effective treatment for Phytosterolemia because it is a specific inhibitor of NPC1L1

A

Ezetimibe

229
Q

LDL levels in Familial Hypercholesterolemia

A

Heterozygotes - 300 mg/dl

Homozygotes - 600 mg/dl

230
Q

Optimal therapy in Homozygotic Familial Hypercholesterolemia

A

LDL apheresis
Ezetimibe
High dose statin

231
Q

Optimal therapy in Heterozygotic Familial Hypercholesterolemia

A

Ezetimibe

Statin

232
Q

Defects in ABCG5 and ABCG8 with elevated plasma levels of B-sitosterol and campesterol

A

Phytosterolemia

233
Q

Definitive diagnosis: Phytosterolemia

A

Measurement of plant sterols by gas chromatography

234
Q

Rare disease with cholestanol in tendons and brain tissue thus at risk for developing cerebellar ataxia and dementia

A

Cerebrotendinous xanthomatosis

235
Q

Definitive diagnosis: Cerebrotendinous xanthomatosis

A

Measurement of cholestanol by gas chromatography

236
Q

Treatment of choice: Cerebrotendinous xanthomatosis

A

Chenodeoxycholate 250mg TID

237
Q

Characteristic cutaneous feature of Dysbetalipoproteinemia

A

Xanthoma striatum palmare

238
Q

Treatment for marked HDL deficiency (<10mg/dL)

A 
LDL <70 mg/dL
Triglyceride <150 mg/dL
Smoking cessation
SBP <130 mmHg
HBA1c <7.0%
239
Q

Inherited syndrome of biliary hypoplasia leading to elevated serum cholesterol that decrease over time presents with facies of prominent forehead, hypertelorism, pointed chin, and nasal dystrophy

A

Alagille syndrome

240
Q

Nonacute Porphyrias

A 
Porphyria Cutanea Tarda
Erythropoietic Protoporphyria
Congenital Erythropoeitic Porphyria
Hepatoerythropoeitic Porphyria
X-linked Dominant Protoporphyria
241
Q

Acute Porphyrias

A

Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
ALA Dehydratase Deficiency Porphyria

242
Q

Porphyrias that are not photosenstive

A

Acute Intermittent Porphyria

ALA Dehydratase Deficiency Porphyria

243
Q

Ezymatic Defect: Porphyria Cutanea Tarda

A 
Decreased UROD (all tissues - familial; liver - sporadic)
Increased ALAS1 (liver, kidney, fibroblasts and lymphocytes)
244
Q

Ezymatic Defect: Erythropoietic Protoporphyria

A

Decreased FECH (BM and fibroblasts)

245
Q

Ezymatic Defect: Congenital Erythropoeitic Porphyria

A

Decreased UROS (erythrocytes and fibroblasts)

246
Q

Ezymatic Defect: Hepatoerythropoeitic Porphyria

A

Decreased UROD (erythrocytes and liver)

247
Q

Ezymatic Defect: X-linked Dominant Protoporphyria

A

Increased ALAS2 (erythrocytes)

248
Q

Ezymatic Defect: Acute Intermittent Porphyria

A

Decreased PBGD (erythrocytes, liver, fibroblasts, lymphocytes, amnion cells)

249
Q

Ezymatic Defect: Variegate Porphyria

A

Decreased PPOX (liver and fibroblasts)

250
Q

Ezymatic Defect: Hereditary Coproporphyria

A

Decreased CPOX (fibroblasts, lymphocytes, liver)

251
Q

Ezymatic Defect: ALA Dehydratase Deficiency Porphyria

A

Decreased ALAD

252
Q

Decreased in Lead poisoning

A

Aminolevulinic acid dehydratase (ALAD)

Ferrochelatase (FECH)

253
Q

Heme biosynthetic pathway

A 
Aminolevulinic acid synthase ALAS
Aminolevulinic acid dehydratase ALAD
Porphobilinogen deaminase PBGD
Uroporphyrinogen III synthase UROS
Uroporphyrinogen decarboxylase UROD
Coproporphyrinogen oxidase CPOX
Protoporphyrinogen oxidase PPOX
Ferrochelatase FECH
254
Q

Soret band

A

400-410 nm

255
Q

Acute symptoms are notably absent in patients with chronic hepatic prophyrias

A

Porphyria Cutanea Tarda

Variegate Porphyria

256
Q

Most common type of porphyria worldwide

A

Porphyria Cutanea Tarda

257
Q

Second most common cutaneous prophyria

A

Erythropoietic Protoporphyria

258
Q

Most recent type of protoporphyria recognized

A

X-linked Dominant Protoporphyria

259
Q

Most mutilating of the cutaneous prophyria

A

Congenital Erythropoeitic Porphyria

260
Q

Pathognomonic finding in Congenital Erythropoeitic Porphyria

A

Erythrodontia (red-stained teeth)

261
Q

Most common acute porphyria

A

Acute Intermittent Porphyria

Dermatology (26 decks)

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