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genoderm, ped > ICHTHYOSES, > Flashcards

ICHTHYOSES, Flashcards

1
Q

• Darier’s disease (keratosis follicularis) mutation, inheritance

A

AD, calcium ATPase IIA2 (SERCA2).

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2
Q

• Darier’s disease (keratosis follicularis)

A

Hyperkeratotic papules in seborrheic area

acrokeratosis verruciformis of Hopf, palmar keratoses and pits

cobblestoning of oral and
rectal mucosae

red-white longitudinal nail bands, v-shaped distal nail nicks

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3
Q

Worsened by lithium

A

• Darier’s disease (keratosis follicularis)

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4
Q

AD, connexin 26 mutation, sporadic

inheritance,

A

KID syndrome:

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5
Q

AR/sporadic, ABCA12 gene reported

A

Harlequin fetus

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6
Q

Mutation in ABHD5 gene. Cannot break down triglycerides and these fats accumulate in skin, liver,
muscles, intestine, eyes, and ears.

A

Chanarin-Dorfman syndrome (Neutral lipid storage disease with ichthyosis):

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7
Q

keratitis-ichthyosis-deafness, generalized mild hyperkeratosis, erythematous, keratotic plaques, palmoplantar keratoderma

nonprogressive sensorineural deafness, progressive bilateral keratitis, with
secondary blindness

A

KID syndrome:

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8
Q

Large diamond-shaped plaques

of scale, low birth weight, ectropion and eclabium. High mortality rate.

A

Harlequin fetus

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9
Q

Cross-beta keratin

tonofilament structure

A

Harlequin fetus

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10
Q

Ichthyosis usually present at birth. Additional features:
hepatomegaly, cataracts, ataxia, hearing loss, short stature, myopathy, nystagmus, and mild
intellectual disability

A

Chanarin-Dorfman syndrome (Neutral lipid storage disease with ichthyosis):

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11
Q

– Decreased filligrin/profillagrin

A

Ichthyosis vulgaris

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12
Q

Compact hyperkeratosis with normal granular

A

XL Ichthyosis

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13
Q

• Steroid sulfatase gene

– Arylsulfatase C

A

XL Ichthyosis

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14
Q

Corneal opacities, cryptorchidism (testicular cancer risk) and prolonged labor for child’s mother

A

XL Ichthyosis

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15
Q

– Retention hyperkeratosis and decreased granular layer

A

Ichthyosis vulgaris

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16
Q
  • AD• Onset at 3 months of age

* Atopic derm and KP related

A

Ichthyosis vulgaris

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17
Q
  • Within a few weeks of life

* Neck most prominent (dirty appearance)

A

XL Ichthyosis

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18
Q
  • AD

* K1 and 10

A

BCIE (EHK)

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19
Q
  • AR

* Transglutaminase-1, 12R-lipoxygenase (ALOX12B), lipoxygenase 3 (ALOXE3)

A

NBCIE

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20
Q
  • Fine scaling with erythema
  • Flexures prominent
  • MR and growth retardation
  • Colloidian baby
A

NBCIE

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21
Q
  • AR

* Transglutaminase 1

A

Lamellar

22
Q
  • Colloidian baby
  • Ectropion, eclabion, alopecia
  • Thick scales, palms, sole
A

Lamellar

23
Q
  • Redness and blistering at birth

* Brown hyperkeratosis and erosions

A

Ichthyosis Bullosa of Siemens

24
Q

• AD

– K2e

A

Ichthyosis Bullosa of Siemens

25
Q
  • Bullae at birth

* Malodorous plaques, accentuated skin lines

A

BCIE (EHK)

26
Q

– Hyperkeratosis and upper dermal vacuolar with clumped keratin

A

BCIE (EHK)

27
Q

– Lipid laden vacuoles in keratinocytes and granulocytes

A

Triglyceride Storage Disease with Impaired Fatty Acid Oxidation

28
Q
  • AD
  • GJB3
  • GJB4
A

Erythrokeratoderma Variabilis

29
Q
  • Fixed hyperkeratotic plaques on face and extremities
  • Transient erythematous patches
  • Hypertrichosis
A

Erythrokeratoderma Variabilis

30
Q

– Gap junction protein connexin 31

A

GJB3 – EKV

31
Q

• GJB4

– Gap junction protein connexin 30.3

A

– EKV and erythema gyratum repens

32
Q
  • AR
  • Tight, restrictive adherent skin with fixed, pinched facies
  • Contractures of limbs
  • Death early
A

Restrictive Dermopathy

33
Q
  • Thick, restrictive plates

* Ectropion and bulging eyes

A

Harlequin Fetus

34
Q
  • AR

* ABCA12 gene/protein defect

A

Harlequin Fetus

35
Q

• Sepsis
• Death in one week normally
• Treatment
– Isotretinoin may prolong survival

A

Harlequin Fetus

36
Q
  • AR

* CG158

A

Triglyceride Storage Disease with Impaired Fatty Acid Oxidation

37
Q
  • Fine scaling on redness
  • Fatty liver
  • Ectropion, cataracts, myopathy, neuro
A

Triglyceride Storage Disease with Impaired Fatty Acid Oxidation

38
Q
  • AR

* FALDH def

A

Sjogren-Larsson

39
Q
  • Ichthyosis
  • MR, spasticity
  • “Glistening white dots” on retina
A

Sjogren-Larsson

40
Q
  • XD

* Sterol isomerase emopamil-binding protein

A

Chondrodysplasia Punctata (CP) (Conradi-Hunermann)

41
Q
  • Whorled/linear ichthyosis, erythroderma on Blaschko’s lines, follicular atrophoderma
  • Failure to thrive
  • Stippled and punctuate calcification of sternum, ribs, scapulae
  • Eye, kidney, CNS abnormalities
A

Chondrodysplasia Punctata (CP) (Conradi-Hunermann)

42
Q
  • AR

* Phytanoyl-CoA hydroxylase

A

Refsum

43
Q

Cannot metabolize phytanic acid

A

Refsum

44
Q
  • Fine scaling, thickened palms and soles

* Retinitis pigmentosa, 4th metatarsal shortening

A

Refsum

45
Q
  • XD

* NSDHL

A

CHILD

46
Q
  • UL icthyotic erythroderma (Blaschko’s)
  • IL defects
  • Cardiac
  • Lung
  • GU
A

CHILD

47
Q
  • AR

* Peroxisomal disease

A

Rhizomelic CP

48
Q

PEX7

A

Type I—Rhizomelic CP

49
Q

DHAPAT

A

Type II—Rhizomelic CP

50
Q

alkyl-DHAP synthetase

A

Type III—Rhizomelic CP

51
Q
  • Diffuse fine scaling, erythema and alopecia

* Dwarfism

A

Rhizomelic CP

genoderm, ped (8 decks)

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