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Chapter 47 - The Ichthyoses Flashcards

1
Q

MODE OF INHERITANCE

Ichthyosis vulgaris

A

Autosomal Semidominant

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2
Q

MODE OF INHERITANCE

Epidermolytic ichthyosis

A

Autosomal Dominant

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3
Q

MODE OF INHERITANCE

Superficial epidermolytic

A

Autosomal Dominant

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4
Q

MODE OF INHERITANCE

Erythrokeratodermia variabilis

A

Autosomal Dominant

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5
Q

MODE OF INHERITANCE

Progressive symmetric erythrokeratoderma

A

Autosomal Dominant

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6
Q

MODE OF INHERITANCE

Keratitis–ichthyosis–deafness (KID) syndrome

A

Autosomal Dominant

Recessive has been reported

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7
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

ONSET

Ichthyosis vulgaris

A

Infancy or childhood

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8
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

ONSET

Epidermolytic ichthyosis

A

Birth

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9
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

ONSET

Superficial epidermolytic

A

Birth

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10
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

ONSET

Erythrokeratodermia variabilis, Generalized type

A

Birth

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11
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

ONSET

Erythrokeratodermia variabilis, Localized type

A

Variable

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12
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

ONSET

Progressive symmetric
erythrokeratoderma

A

Shortly after birth

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13
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

ONSET

Keratitis–ichthyosis–deafness (KID) syndrome

A

Birth/infancy

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14
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

Fine or centrally tacked-down scale with superficial fissuring; relative flexural sparing, worse on lower extremities; hyperlinear palms and soles

A

Ichthyosis vulgaris

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15
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

Heterogeneous; may have verrucous, firm, hyperkeratotic (hystrix) spines, often linearly arrayed in flexural creases; blisters; may have erythroderma and/or palmar/plantar keratoderma

A

Epidermolytic ichthyosis

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16
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

Redness and blistering at birth; later develop hyperkeratosis, accentuated over flexures; mauserung (molting): collarette-like lesion where uppermost epidermis has been lost

A

Superficial epidermolytic ichthyosis

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17
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

Generalized hyperkeratosis and figurate, migratory red patches

A

Erythrokeratodermia variabilis, Generalized type

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18
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

Localized hyperkeratotic plaques with figurate, migratory red patches

A

Erythrokeratodermia variabilis, Localized type

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19
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

Erythematous, scaly plaques, symmetrically distributed over extremities, buttocks, and face; stabilize in early childhood; trunk tends to be spared

A

Progressive symmetric erythrokeratoderma

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20
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

Progressive corneal opacification; either mild generalized hyperkeratosis or discrete erythematous plaques, which may be symmetric; neurosensory deafness

A

Keratitis–ichthyosis–deafness (KID) syndrome

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21
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Keratosis pilaris; atopy

A

Ichthyosis vulgaris

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22
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Frequent skin infections; characteristic pungent odor

A

Epidermolytic ichthyosis

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23
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Red patches move over minutes to hours; may be triggered by changes in temperature

A

Erythrokeratodermia variabilis, Generalized type

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24
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Hyperkeratotic plaques may be induced by trauma; considerable intrafamilial variability

A

Erythrokeratodermia variabilis, Localized type

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25
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Follicular hyperkeratosis, scarring alopecia, dystrophic nails, susceptibility to infection

A

Keratitis–ichthyosis–deafness (KID) syndrome

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26
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

GENE

Ichthyosis vulgaris

A

FLG

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27
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

GENE

Epidermolytic ichthyosis

A

KRT1, KRT10

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28
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

GENE

Superficial epidermolytic ichthyosis

A

KRT2

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29
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

GENE

Erythrokeratodermia variabilis, Generalized type

A

GJB3, GJB4, GJA

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30
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

GENE

Progressive symmetric erythrokeratoderma

A

LOR, GJB4

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31
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

GENE

Keratitis–ichthyosis–deafness (KID) syndrome

A

GJB2

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32
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

Ichthyosis vulgaris

A

Absence of filaggrin

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33
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

Epidermolytic ichthyosis

A

Keratin 1 or 10

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34
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

Superficial epidermolytic ichthyosis

A

Keratin 2, which is expressed in superficial epidermis

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35
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

Erythrokeratodermia variabilis, Generalized type

A

Connexin 30.3, 31, or 43; connexins form gap junction channels between cells

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36
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

Progressive symmetric erythrokeratoderma

A

Loricrin, connexin 30.3

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37
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

Keratitis–ichthyosis–deafness (KID) syndrome

A

Connexin 26; connexins form gap junction channels between cells

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38
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

FUNCTION
Uncertain—may aggregate keratin filaments and be a precursor to stratum corneum humectants

A

Filaggrin

Ichthyosis vulgaris

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39
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

FUNCTION
Structural protein abnormality leading to keratin intermediate filament dysfunction—epidermal fragility

A

Keratin 1, 2, 10

Epidermolytic ichthyosis
Superficial epidermolytic ichthyosis

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40
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

FUNCTION
Intercellular communication

A

Connexin

Erythrokeratodermia variabilis, Generalized type
Progressive symmetric erythrokeratoderma
Keratitis–ichthyosis–deafness (KID) syndrome

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41
Q

TABLE 47-1
Features of Selected Ichthyoses with Dominant Inheritance

PROTEIN

FUNCTION
Cornified envelope precursor

A

Loricrin

Progressive symmetric erythrokeratoderma

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42
Q

MODE OF INHERITANCE

X-linked recessive ichthyosis

A

X-linked recessive

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43
Q

MODE OF INHERITANCE

Chondrodysplasia punctata

A

X-linked recessive

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44
Q

MODE OF INHERITANCE

Chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome)

A

X-linked dominant

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45
Q

CHILD syndrome

A

X-linked

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46
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

ONSET

X-linked recessive ichthyosis

A

Birth or infancy

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47
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

ONSET

CHILD syndrome

A

Birth

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48
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

ONSET

Chondrodysplasia punctata X-linked recessive

A

Birth

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49
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

ONSET

X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome)

A

Birth

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50
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

DIAGNOSIS

Fine to large scales; comma-shaped corneal opacities on posterior capsule

A

X-linked recessive ichthyosis

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51
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

DIAGNOSIS

May begin as erythroderma, linear or whorled atrophic areas or hyperkeratosis, alopecia, skeletal abnormalities, short stature

A

Chondrodysplasia punctata X-linked recessive

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52
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

DIAGNOSIS

Congenital ichthyosiform erythroderma at birth; clears and is replaced by linear hyperkeratosis, follicular atrophoderma and pigmentary abnormalities, and stippled calcifications on radiographs

A

X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome)

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53
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

DIAGNOSIS

Congenital hemidysplasia, ichthyosiform erythroderma, limb defects

A

CHILD syndrome

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54
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Cryptorchidism; female carriers may have corneal opacities and delay of onset or progression of labor in affected pregnancies

A

X-linked recessive ichthyosis

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55
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Cataracts, deafness

A

Chondrodysplasia punctata X-linked recessive

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56
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Occurs almost exclusively in females; hair shaft abnormalities, short stature, cataracts

A

X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome)

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57
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Occurs almost exclusively in females

A

CHILD syndrome

58
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

GENE

X-linked recessive ichthyosis

59
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

GENE

Chondrodysplasia punctata X-linked recessive

60
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

GENE

X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome)

61
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

GENE

CHILD syndrome

A

NSDHL; EBP reported

62
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

PROTEIN

X-linked recessive ichthyosis

A

Steroid sulfatase

63
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

PROTEIN

Chondrodysplasia punctata X-linked recessive

A

Arylsulfatase E

64
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

PROTEIN

X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome)

A

EBP, also known as 3B-hydroxysteroid-8,7-isomerase

65
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

PROTEIN

CHILD syndrome

A

NSDHL (3B-hydroxysteroid dehydrogenase); EBP reported

66
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

PROTEIN

FUNCTION
Lipid metabolism—abnormal cholesterol metabolism with accumulation of cholesterol sulfate

A

Steroid sulfatase

X-linked recessive ichthyosis

67
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

PROTEIN

FUNCTION
Lipid metabolism—ill defined: failure of hydrolysis of sulfate ester bonds

A

Arylsulfatase E

Chondrodysplasia punctata X-linked recessive

68
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

PROTEIN

FUNCTION
Lipid metabolism—abnormal cholesterol biosynthesis

A

EBP

X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome)

69
Q

TABLE 47-2
Features of Selected Ichthyoses with X-linked Inheritance

PROTEIN

FUNCTION
Lipid metabolism—postsqualene cholesterol biosynthesis

A

NSDHL

CHILD syndrome

70
Q

MODE OF INHERITANCE

Autosomal recessive congenital ichthyosis/Lamellar ichthyosis
(ARCI/LI)

A

Autosomal Recessive

71
Q

MODE OF INHERITANCE

Autosomal recessive congenital ichthyosis/Congenital ichthyosiform erythroderma
(ARCI/CIE)

A

Autosomal Recessive

72
Q

MODE OF INHERITANCE

Harlequin ichthyosis

A

Autosomal Recessive

73
Q

MODE OF INHERITANCE

Ichthyosis prematurity syndrome

A

Autosomal Recessive

74
Q

MODE OF INHERITANCE

Netherton syndrome

A

Autosomal Recessive

75
Q

MODE OF INHERITANCE

Sjögren-Larsson syndrome

A

Autosomal Recessive

76
Q

MODE OF INHERITANCE

Refsum disease

A

Autosomal Recessive

77
Q

MODE OF INHERITANCE

Trichothiodystrophy
(Tay syndrome)

A

Autosomal Recessive

78
Q

MODE OF INHERITANCE

Chanarin–Dorfman syndrome
(neutral lipid storage disease)

A

Autosomal Recessive

79
Q

MODE OF INHERITANCE

Neonatal ichthyosis–sclerosing cholangitis syndrome

A

Autosomal Recessive

80
Q

MODE OF INHERITANCE

Multiple sulfatase deficiency

A

Autosomal Recessive

81
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Autosomal recessive congenital ichthyosis
(ARCI)

A

Birth; often collodion presentation

82
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Harlequin ichthyosis

83
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Ichthyosis prematurity syndrome

84
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Netherton syndrome

85
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Sjögren-Larsson syndrome

A

Ichthyosis apparent at birth

86
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Refsum disease

A

Ichthyosis develops years after birth

87
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Trichothiodystrophy
(Tay syndrome)

A

Some have ichthyosis, which may be apparent at birth; may have collodion presentation

88
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Chanarin–Dorfman syndrome
(neutral lipid storage disease)

A

Birth; may have collodion membrane

89
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Neonatal ichthyosis–sclerosing cholangitis syndrome

90
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

ONSET

Multiple sulfatase deficiency

91
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Large, platelike, brown scale over most of the body; accentuated on lower extremities; ectropion, eclabium, and alopecia, palmar/ plantar involvement varies

A

Autosomal recessive congenital ichthyosis/Lamellar ichthyosis
(ARCI/LI)

92
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Fine, white scale; generalized erythroderma; palmar/plantar involvement varies

A

Autosomal recessive congenital ichthyosis/Congenital ichthyosiform erythroderma
(ARCI/CIE)

93
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Markedly thickened skin with geometric, deep fissures; at birth survivors develop severe erythroderma

A

Harlequin ichthyosis

94
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Premature delivery of infants with erythrodermic, edematous, caseous scaling skin resembling excessive vernix caseosa, evolves into dry, scaly skin with follicular accentuation with signs of atopy

A

Ichthyosis prematurity syndrome

95
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Ichthyosis linearis circumflexa or
similar to congenital ichthyosiform erythroderma; trichorrhexis invaginata

A

Netherton syndrome

96
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Generalized fine to coarse hyperkeratosis; spastic diplegia; mental retardation; retinal glistening white dots

A

Sjögren-Larsson syndrome

97
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Progressive neurologic dysfunction; skeletal, cardiac, and renal abnormalities

A

Refsum disease

98
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Brittle hair, photosensitivity, short stature, ichthyosis, intellectual impairment, microcephaly, recurrent infections

A

Trichothiodystrophy
(Tay syndrome)

99
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Generalized scaling, resembles congenital ichthyosiform erythroderma; variable extracutaneous involvement: cataracts, decreased hearing, psychomotor delay

A

Chanarin–Dorfman syndrome
(neutral lipid storage disease)

100
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Neonatal cholestatic jaundice, mild ichthyosis with fine, white scales

A

Neonatal ichthyosis–sclerosing cholangitis syndrome

101
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

Ichthyosis resembling X-linked recessive

A

Multiple sulfatase deficiency

102
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Heat intolerance

A

Autosomal recessive congenital ichthyosis
(ARCI)

103
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Restricted respiration, feeding; neonatal sepsis; often leads to neonatal death; failure to thrive

A

Harlequin ichthyosis

104
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Respiratory distress, and transient peripheral eosinophilia; the respiratory signs resolve

A

Ichthyosis prematurity syndrome

105
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Atopy; high serum levels of IgE; may have aminoaciduria; failure to thrive

A

Netherton syndrome

106
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Short stature, seizures

A

Sjögren-Larsson syndrome

107
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Retinitis pigmentosa, elevated plasma phytanic acid

A

Refsum disease

108
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Abnormally low sulfur content of hair

A

Trichothiodystrophy
(Tay syndrome)

109
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Severe pruritus; neurologic abnormalities; hepatic abnormalities; lipid droplets in circulating leukocytes

A

Chanarin–Dorfman syndrome
(neutral lipid storage disease)

110
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Scarring alopecia of the scalp and eyebrows, enamel dysplasia

A

Neonatal ichthyosis–sclerosing cholangitis syndrome

111
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

DIAGNOSIS

ASSOCIATED FEATURES
Neurologic deterioration; skeletal abnormalities; facial dysmorphism

A

Multiple sulfatase deficiency

112
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Autosomal recessive congenital ichthyosis
(ARCI)

A

ALOXE3
ALOX12B
NIPAL4
CYP4F22
PNPLA1, CERS3,
SDR9C7, SULT2B1

113
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Harlequin ichthyosis

114
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Ichthyosis prematurity syndrome

A

FATP4 (SLC27)

115
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Netherton syndrome

116
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Sjögren-Larsson syndrome

A

FALDH (ALDH10, ALDH3A2)

117
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Refsum disease

A

Most PAHX; PEX 7 also reported

118
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Trichothiodystrophy
(Tay syndrome)

A

Majority have defect in ERCC2 (XPD). A few have mutations in ERCC3 (XPB), GTF2H5 (TTDA), or TTDN1.

119
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Chanarin–Dorfman syndrome
(neutral lipid storage disease)

120
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Neonatal ichthyosis–sclerosing cholangitis syndrome

121
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

GENE

Multiple sulfatase deficiency

122
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Autosomal recessive congenital ichthyosis
(ARCI)

A

Lipoxygenase 3
12(R)-lipoxygenase E3
Magnesium transporter NIPA4
Cytochrome P450 family 4 subfamily F member 22
Patatin like phospholipase domain
containing 1, Ceramide synthase 3,
Short chain dehydrogenase/reductase family 9C member 7, Sulfotransferase family 2B member 1

123
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Harlequin ichthyosis

A

ATP-binding cassette, subfamily A, member 12

124
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Ichthyosis prematurity syndrome

A

Fatty acid transport protein 4

125
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Netherton syndrome

A

LEKTI (a serine protease inhibitor)

126
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Sjögren-Larsson syndrome

A

Fatty aldehyde dehydrogenase

127
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Refsum disease

A

Phytanoyl-CoA hydroxylase (PhyH)

128
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Trichothiodystrophy
(Tay syndrome)

A

Most XPD, XPB, TTDA, or TTDN1 in a few

129
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Chanarin–Dorfman syndrome
(neutral lipid storage disease)

A

Abhydrolase domain-containing protein 5

130
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Neonatal ichthyosis–sclerosing cholangitis syndrome

131
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

Multiple sulfatase deficiency

A

C alpha-formylglycine generating enzyme

132
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

FUNCTION
Lipid metabolism—membrane transport, abnormality of lipid metabolism

A

ATP-binding cassette, subfamily A, member 12

Harlequin ichthyosis

133
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

FUNCTION
Lipid metabolism—fatty acid transport

A

Fatty acid transport protein 4

Ichthyosis prematurity syndrome

134
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

FUNCTION
Protein metabolism—inhibits degradation of desmosomal proteins and perhaps filaggrin in stratum corneum

A

LEKTI

Netherton syndrome

135
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

FUNCTION
Lipid metabolism—fatty aldehyde metabolism

A

Fatty aldehyde dehydrogenase

Sjögren-Larsson syndrome

136
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

FUNCTION
Peroxisome abnormality—deficiency of phytanic acid catabolism; results in phytanic acid accumulation

A

Phytanoyl-CoA hydroxylase (PhyH)

Refsum disease

137
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

FUNCTION
Components of transcription factor TFIIH

A

Most XPD. XPB, TTDA, or TTDN1 in a few

Trichothiodystrophy
(Tay syndrome)

138
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

FUNCTION
Lipid metabolism—activates adipose-triglyceride lipase for lipolysis of triglycerides

A

Abhydrolase domain-containing protein 5

Chanarin–Dorfman syndrome
(neutral lipid storage disease)

139
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

FUNCTION
Tight junction

A

Claudin 1

Neonatal ichthyosis–sclerosing cholangitis syndrome

140
Q

TABLE 47-3
Features of Selected Ichthyoses with Autosomal Recessive Inheritance

PROTEIN

FUNCTION
Generates catalytic residue in active site of eukaryotic sulfatases

A

C alpha-formylglycine generating enzyme

Multiple sulfatase deficiency

Fitzpatrick Tables (55 decks)

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