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FD9 > 47 - The Ichthyosis > Flashcards

47 - The Ichthyosis Flashcards

1
Q

Parental consanguinity may suggest _____ inheritance

A

Autosomal recessive

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2
Q

Chorionic villous sampling performed in the

A

1st trimester

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3
Q

Amniocentesis performed in the

A

2nd trimester

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4
Q

Symptoms of salicylic acid intoxication

A

Nausea
Tinnitus
Dyspnea
Hallucinations

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5
Q

Most common ichthyosis

A

Ichthyosis vulgaris

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6
Q

Gene mutation and protein: ichthyosis vulgaris

A

FLG

Filaggrin

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7
Q

Scale is usually most prominent on the extensor surfaces of the extremities, with flexural sparing
Diaper area tends to be spared

A

Ichthyosis vulgaris

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8
Q

Mode of inheritance: ichthyosis vulgaris

A

Autosomal semidominant

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9
Q

Associated findings include hyperlinear palms, palmar/plantar thickening, keratosis pilaris, atopy

A

Ichthyosis vulgaris

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10
Q

Gene mutation and protein: X-linked recessive ichthyosis

A

STS

Steroid sulfatase

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11
Q

Scaling is most prominent on the extensor surfaces, with significant involvement of the flexural areas
Comma-shaped corneal opacities
Increased risk of cryptorchidism and testicular cancer

A

X-linked recessive ichthyosis

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12
Q

Steroid sulfatase hydrolyzes sulfate esters, which include

A

Cholesterol sulfate

Sulfated steroid hormones

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13
Q

Absence of steroid sulfatase enzyme in the fetal placenta leads to

A

Low maternal urinary estrogens

Failure of labor to initiate or progress normally

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14
Q

Majority of maternal urinary estrogens are derived from the

A

Fetal adrenal glands

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15
Q

During the first _____ of life, the collodion membrane breaks up and peels off

A

2 weeks

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16
Q

Types of autosomal recessive congenital ichthyosis

A
  1. Lamellar ichthyosis
  2. Congenital ichthyosiform erythroderma
  3. Harlequin ichthyosis
  4. Netherton syndrome
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17
Q

ARCI:
Large, dark, platelike scales
Infants may be red at birth, adults have little to no erythroderma
Ectropion, eclabium
Scarring alopecia most prominent at the periphery

A

Lamellar ichthyosis

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18
Q

ARCI:
Generalized redness and fine, white scales
Little to no ectropion, eclabium or alopecia

A

Congenital ichthyosiform erythroderma

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19
Q

Gene mutation and protein: lamellar ichthyosis

A

TGM1

Transglutaminase 1

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20
Q

Bathing suit ichthyosis is a type of

A

Lamellar ichthyosis

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21
Q

Thick, shiny plates of stratum corneum separated by deep, red fissures that tend to form geometric patterns
Poorly developed or absent ears
Marked ectropion and eclabium
Fingertips are tapered with hyperconvexity of the nails

A

Harlequin ichthyosis

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22
Q

Ichthyosis linearis circumflexa
Trichorrhexis invaginata
Atopy

A

Netherton syndrome

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23
Q

Polycyclic, serpiginous, migratory, double-edged scale at the margins of erythematous plaques

A

Ichthyosis linearis circumflexa

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24
Q

Distal hair segment is telescoped into the proximal one

Also known as “bamboo hair”

A

Trichorrhexis invaginata

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25
Q

Trichorrhexis invaginata is caused by abnormal cornification of the

A

Inner root sheath

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26
Q

Trichorrhexis invaginata is more commonly observed on

A

Eyebrow hair

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27
Q

Gene mutation and protein: congenital ichthyosiform erythroderma

A

ALOXE3 - lipoxygenase 3

ALOX12B - 12(R)-lipoxygenase E3

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28
Q

Gene mutation and protein: Harlequin ichthyosis

A 
ABCA12
Adenosine triphosphate (ATP)-binding cassette (ABC) transporter
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29
Q

Normal lamellar granules are not found
Small vesicles that lack internal structure
No evidence of the lipid lamellar that form between granular and cornified cells

A

Harlequin ichthyosis

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30
Q

Gene mutation and protein: Netherton syndrome

A 
SPINK5
LEKTI (lymphoepithelial Kazal-type related inhibitor
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31
Q

Topical and systemic retinoids should be avoided in patients with _____ because they can further exacerbate the condition

A

Netherton syndrome

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32
Q

Types of keratinopathic ichthyosis

A
  1. Epidermolytic ichthyosis
  2. Superficial epidermolytic ichthyosis/ichthyosis bullosa of Siemens
  3. Ichthyosis hysterix Curth-Macklin
  4. Annular epidermolytic ichthyosis
  5. Ichthyosis with confetti
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33
Q

Mode of transmission: epidermolytic ichthyosis

A

Autosomal dominant

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34
Q

Presents at birth with blistering, redness and peeling
Generalized hyperkeratosis
Characteristic odor, thought to be related to superinfection by mixed flora
Corrugated scale that becomes accentuated in areas of body folds

A

Epidermolytic ichthyosis

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35
Q

Variant of epidermal nevus caused by a postzygotic spontaneous mutation
Hyperkeratosis alternating with normal skin distributed in streaks along Blaschko lines

A

Linear ichthyosiform erythroderma

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36
Q

Mode of transmission: superficial epidermolytic ichthyosis

A

Autosomal dominant

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37
Q

Corrugated hyperkeratosis, particularly over flexural areas
Loss of the uppermost epidermis (predominantly the stratum corneum), yielding a characteristic collarette-like depressed area that has been described as “mauserung” (molting)

A

Superficial epidermolytic ichthyosis

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38
Q

Gene mutation and protein: superficial epidermolytic ichthyosis

A

KRT2

Keratin 2

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39
Q

Mode of inheritance: annular epidermolytic ichthyosis

A

Autosomal dominant

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40
Q

Severe, intermittent scaling and blistering resolves during puberty
Residual, limited plaques with corrugated scale and erythema primary in flexural and intertriginous skin
Widespread, migratory, polycyclic, and annular scaling plaques

A

Annular epidermolytic ichthyosis

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41
Q

Gene mutation and protein: annular epidermolytic ichthyosis

A

KRT10, KRT1

Keratins 10 and 1

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42
Q

On electron microscopic examination, clumping of filaments is observed to begin in the first suprabasal layer

A

Epidermolytic ichthyosis

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43
Q

Congenital erythroderma, malformation of the auricle, tapering of the digits
Palmoplantar keratoderma
Small islands of normal-appearing skin beginning in childhood

A

Ichthyosis with confetti

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44
Q

Severe palmar/planes involvement implies mutations in

A

KRT1

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45
Q

Occurs only in the suprabasal epidermis of palmar and plantar skin

A

KRT9

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46
Q

Does not feature marked skin fragility

No evidence of filament aggregates

A

Ichthyosis with confetti

47
Q

Connexin disorders include

A

Keratitis-ichthyosis-deafness syndrome

Erythrokeratodermia variabilis et progressiva

48
Q

Well-demarcated, erythematous, hyperkeratotic plaques that are symmetrically distributed over the extremities and buttocks, and often the face
Trunk tends to be spared

A

Erythrokeratodermia variabilis et progressiva

49
Q

Mode of inheritance: erythrokeratodermia variabilis et progressiva

A

Autosomal dominant

50
Q

Hyperkeratosis, acanthosis, papillomatosis, capillary dilatation
Severe papillomatosis and suprapapillary thinning may result in a “church spire” appearance

A

Erythrokeratodermia variabilis et progressiva

51
Q

Mode of inheritance: keratitis-ichthyosis-deafness syndrome

A

Autosomal dominant

52
Q

Distinctive plaques may have a discrete border and a verrucous appearance with crusting and may be conspicuously figurate and symmetric on the face
Prominent follicular hyperkeratosis which can result in scarring alopecia
“Leather-like” palmar/plantar keratoderma

A

Keratitis-ichthyosis-deafness syndrome

53
Q

Gene mutation and protein: erythrokeratodermia variabilis et progressiva

A

GJB3, GJB4, GJA1

Connexin 31, 30.3, 43

54
Q

Family of proteins that aggregate to form gap junctions that are important channels for intercellular communication

55
Q

Gene mutation and protein: keratitis-ichthyosis-deafness syndrome

A

GJB2

Connexin 26

56
Q

Oral retinoids has been reported to be of little benefit and possibly to exacerbate the corneal neovascularization

A

Keratitis-ichthyosis-deafness syndrome

57
Q

Lack the generalized hyperkeratosis in most ichthyoses
Painless, easy peeling skin without scarring
Exacerbation by friction and humidity
First appearance from the second day to mid-first decade of life

A

Peeling skin disorders

58
Q

Gene mutation and protein: PSS1

A

CDSN

Corneodesmosin

59
Q

Loss of _____ expression eliminates the adhesion between the upper epidermis and the stratum corneum and disrupts terminal differentiation

A

Corneodesmosin

60
Q

Gene mutation and protein: PSS2

A

TGM5

Transglutaminase 5

61
Q

Expressed in the granular layer of skin
Central to the formation of the cornified envelop, cross-linking structural proteins including involucrin, loricin, filaggrin, and small proline-rich proteins

A

Transglutaminase 5

62
Q

Gene mutation and protein: PSS3

A

Autosomal recessive mutations in CHST8

N-acetylgalactosamine-4-O-sulfotrasferase

63
Q

Enzyme central to the production of sulfated glycosaminoglycans in the epidermis

A

N-acetylgalactosamine-4-O-sulfotrasferase

64
Q

Gene mutation and protein: PSS4

A

Autosomal recessive mutations in CSTA

Cystatin A

65
Q

Cysteine protease inhibitor expressed throughout the epidermis
Central role in desmosomal adhesion in basal layers

66
Q

Gene mutation and protein: PSS5

A

Autosomal recessive mutations in SERPINB8

Protease inhibitor

67
Q

Neutral lipid storage disease with ichthyosis

A

Chanarin-Dorfman syndrome

68
Q

Mode of inheritance: Chanarin-Dorfman syndrome

A

Autosomal recessive

69
Q

Accumulation of triglycerides in the cytoplasm of keratinocytes, leukocytes, muscle, liver, fibroblasts, and other tissues with normal blood lipid levels
Generalized lamellar scales
Corrugated accentuation of hyperkeratosis in flexures
Collodion baby

A

Chanarin-Dorfman syndrome

70
Q

Gene mutation: neutral lipid storage disease without ichthyosis

71
Q

Extracutaneous involvement is more severe in neutral lipid storage disease with or without ichthyosis

A

More severe in neutral lipid storage disease without ichthyosis

72
Q

Histopathology of oil red O or Sudan III stains shows lipid droplets in dermal cells and in acrosyringia of eccrine ducts

A

Chanarin-Dorfman syndrome

73
Q

Gene mutation: Chanarin-Dorfman syndrome

74
Q

CHILD syndrome is a rare disorder consisting of

A

Congenital hemidysplasia
Ichthysiform erythroderma
Limb defects

75
Q

CHILD syndrome is found almost exclusively in

76
Q

Mode of inheritance: CHILD syndrome

A

X-linked dominant

77
Q

Gene mutation and protein: CHILD syndrome

A

NSDHL (NADPH steroid dehydrogenase-like protein)

3beta-hydroxysteroid dehydrogenase

78
Q

Functions in the post-squalene cholesterol biosynthetic pathway, catalyzing intermediate steps in the conversion of lanosterol to cholesterol

A

3beta-hydroxysteroid dehydrogenase

79
Q

Improvement of skin findings in _____ was achieved by topical application of

A

Cholesterol

Lovastatin

80
Q

Also known as peroxisomal biogenesis disorder complentation group 11

A

Rhizomelic chondrodysplasia punctata

81
Q

Mode of inheritance: rhizomelic chondrodysplasia punctata

A

Autosomal recessive

82
Q

Dwarfism caused by symmetric shortening of the proximal long bones, specific radiologic abnormalities (ie, presence of stippled calcifications of cartilage, vertebral clefting), joint contractures, congenital cataracts, ichthyosis and severe mental retardation

A

Rhizomelic chondrodysplasia punctata

83
Q

Symmetric shortening of the proximal bones

A

Rhizomelia

84
Q

Gene mutation and protein: rhizomelic chondrodysplasia punctata

A

PEX7

Peroxin 7

85
Q

Gene mutation and protein: X-linked chondrodysplasia punctata

A

ARSE

Arylsulfatase E

86
Q

Conradj-Hunermann-Happle syndrome

A

X-linked dominant chondrodysplasia punctata

87
Q

Mosaic pattern of skin involvement along Blashcko lines caused by mosaic X-chromosome inactivation (lyonization)
Occurs almost exclusively in females
Presents at birth as congenital ichthyosiform erythroderma that clears over months and is replaced by linear hyperkeratosis, follicular atrophoderma, and pigmentary abnormalities

A

X-linked dominant chondrodysplasia punctata

88
Q

Gene mutation: X-linked dominant chondrodysplasia punctata

A

EBP (enopamil-binding protein)

89
Q

Downstream of NSDLH in the cholesterol synthetic pathway

90
Q

Gene mutation: ichthyosis follicularis, alopecia, and photophobia syndrome

91
Q

Polyhydramnios in the 2nd trimester
Premature delivery of infants with erythrodermic, edematous, caseous scaling skin resembling excessive vernix caseosa, respirating distress, and transient peripheral eosinophilia

A

Ichthyosis prematury syndrome

92
Q

Gene mutation: ichthyosis prematury syndrome

A

FATP4 (fatty acid transport protein 4 gene)

93
Q

Mode of inheritance: multiple sulfatase deficiency

A

Autosomal recessive

94
Q

Gene mutation and protein: multiple sulfatase deficiency

A

Sulfatase modifying factor 1 (SUMF1)

C alpha-formylglycine

95
Q

Heredopathia atactica polyneuritiformis

A

Refsum disease

96
Q

Rare, progressive, degenerative disorder of lipid metabolism resulting from the failure to break down dietary phytanic acid and its subsequent accumulation in tissues

A

Refsum disease

97
Q

Mode of inheritance: Refsum disease

A

Autosomal recessive

98
Q

Gene mutation and protein: Refsum disease

99
Q

Treatment of Refsum disease

A

Dietary restriction of foods containing phytanic acid and its precursors

100
Q

Congenital ichthyosis - most involved areas are the sides and back of the neck, lower abdomen, and flexures
Spactic paralysis
Mental retardation
Presence of glistening white dots in the macula of the retina

A

Sjogren-Larsson syndrome

101
Q

Mode of inheritance: Sjogren-Larsson syndrome

A

Autosomal recessive

102
Q

Caused by fatty alcohol:NAD oxidoreductase deficiency

A

Sjogren-Larsson syndrome

103
Q

Gene mutation: Sjogren-Larsson syndrome

104
Q

Mode of inheritance: trichothiodystrophy

A

Autosomal recessive

105
Q

Characteristic features of sulfur deficient, brittle hair that exhibits alternating birefringence (tiger tail banding) when viewed under polarizing microscopy

A

Trichothiodystrophy

106
Q

Most common skin findings in trichothiodystrophy

A

Ichthyosis (65%)

Photosensitivity (42%)

107
Q

Gene mutation and protein: trichothiodystrophy

A

ERCC2
TFIIH

+other mutations

108
Q

Y/N: Trichothiodystrophy patients have been observed to be at high risk for the development of skin cancer

A

No - have not been observed

109
Q

Acquired ichthyosis has been described in association with

A 
Malignancies
Drugs
Endocrine and metabolic disease
Malnutrition 
HIV and other infections
Autoimmune conditions
110
Q

Most common malignancy reported with acquired ichthyosis

A

Hodgkin disease

111
Q

Type of acquired ichthyosis with sharply demarcated, round or oval scaly patches with hypo- or hyperpigmentation

A

Pityriasis rotunda

112
Q

Confluent and reticulated papillomatosis of Gougerot and Carteaud are seen in

A

Young adults

113
Q

Confluent and reticulated papillomatosis of Gougerot and Carteaud tend to be localized predominantly on the

A

Neck, upper trunk (intermammary and interscapular regions) and axillae

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