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Misc Derm > Spitz 1a Ichthyoses > Flashcards

Spitz 1a Ichthyoses Flashcards

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Dermatology Board Prep flashcards
1
Q

*** are characterized by widespread distribution of skin scaling

A

Ichthyoses

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2
Q

*** are characterized by discrete areas of erythema and hyperkeratosis, but not necessarily scaling

A

Erythrokeratodermas

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3
Q

Retention hyperkeratosis, normal epidermal proliferation

A

Ichthyosis vulgaris

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4
Q

Ichthyosis vulgaris caused by Lack of *** leading to abnormal barrier function, increased TEWL, xerosis

A

filaggrin

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5
Q 
Ichthyosis vulgaris
Associated findings:
Inheritance:
Incidence:
Treatment:
A

Associated findings: KP, AD
Inheritance:AD. Heterozygous mild, homo severe
Incidence:1:250-2000
Treatment: emollients, humectants (urea)

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6
Q

icthyosis with “dirty neck” in infancy

A

X-linked ichthyosis

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7
Q

X-linked ichthyosis
Gene:
common PMH:

A

steroid sulfatase (STS)

failure of labor to begin, low placental sulfatase/estrogen, increased fetal DHEAS

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8
Q

Steroid sulfatase (STS) is located in ***and secreted between cells of the stratum corneum

A

lamellar bodies

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9
Q

STS degrades ***, producing cholesterol for the epidermal barrier

A

cholesterol sulfate and DHEAS

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10
Q

Cholesterol sulfate is an ***; in absence of steroid sulfatase, normal degradation of the stratum corneum desmosomes is inhibited, resulting in ###

A

***epidermal protease inhibitor

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11
Q

GU issue in X-linked ichthyosis

A

Cryotporchidism (20%)

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12
Q

increased risk of *** cancer

A

testicular (even if descended testes)

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13
Q

Why does labor fail to procress in Xlinked ichthyosis

A

Estrogen formation requires DHEAS deconjugation. Without estrogen, the cervix does not dilate, causing failure to progress

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14
Q

Xlinked ichthyosis: what do female carriers show on PE?

A

comma shaped corneal opacities

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15
Q

Xlinked ichthyosis: What would be your concern if this patient was unable to smell?

A

Contiguous gene deletion syndromes (10%)

  • Kallmann: MR, hypogonadism, anosmia
  • XLR chondrodysplasia punctata
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16
Q

XLR Disorders

pneumonic
CHAD’S Kinky WIFE

A 
Chronic Granulomatous Disease
 Hunter’s Disease
 Anhidrotic Ectodermal Dysplasia
 Dyskeratosis Congenita
 SCID
 Menke’s Kinky Hair
 Wiscott-Aldrich
 X-linked Ichthyosis
 Fabry’s Disease
 Ehlers-Danlos types 5 and 9
17
Q

ichthyosis with corrugated scale pattern

A

Epidermolytic hyperkeratosis (EHK)

aka Bullous congenital ichthyosiform erythroderma

18
Q

Epidermolytic hyperkeratosis (EHK) is also known as

A

Bullous congenital ichthyosiform erythroderma

19
Q 
Epidermolytic hyperkeratosis (EHK)
Inheritance:
Gene mutation:
Location
Phenotype:
A

Inheritance: AD (50% spontaneous)
Gene mutation: K1 and K10 (spinous layer)
Location: suprabasal keratinocytes
Phenotype: defective keratin filaments cause cytolysis and blistering/erosions

20
Q

***: Shedding of stratum corneum  painful erosions

A

mausering

21
Q

Mosaic variant of Epidermolytic hyperkeratosis (EHK)

A

ichthyosis hystrix

22
Q

Presentation of Epidermolytic hyperkeratosis (EHK)

A

widespread bullae, erythroderma, mausering

23
Q

A patient has flexural corrugated scale, and you notice the parent does as well, but there is no history of major erosions at birth. Diagnosis?

A

Ichthyosis bullosa of Siemens (AKA superficial epidermolytic ichthyosis)

24
Q

mutation in Ichthyosis bullosa of Siemens (AKA superficial epidermolytic ichthyosis)

A

Keratin 2e

25
Q

Lamellar ichthyosis
Inheritance:
Gene mutation:
Phenotype:

A

Inheritance: AR
Gene mutation: transglutaminase-1
Phenotype: TG1 normally crosslinks proteins to make cornified envelope. Mutation = defective cornification, desquamation

26
Q

Presentation of lamellar ichthyosis

A

colloidion baby without erythroderma

27
Q

CIE

A

Congenital ichthyosiform erythroderma

28
Q

Congenital ichthyosiform erythroderma (CIE)
inheritance
Gene defect
Other associated findings

A

inheritance: AR
Gene defect: TGM1, ALOX, ABCA12
Other associated findings: alopecia, ectropion,hypOhydrosis

29
Q

Congenital ichthyosiform erythroderma (CIE) treatment

A

Eat, drink, avoid overheating

emollient, keratolytics, retinoids

30
Q 
Harlequin fetus
Gene defect:
Phenotype:
Findings:
Prognosis:
A

Gene defect: ABCA12
Phenotype: abnormal or missing lamellar granules .:. no lipid bilayer in stratum corneum
Findings: ectropion, eclabium, deformaties, poor temp regulation
Prognosis: stillborn or early death

31
Q

Sjogren-Larsson Syndrome
Gene:
Defect:
Organs affected:

A

Gene: FALDH (fatty aldehyde dehydrogenase)
Defect: defective conversion of fatty alcohol to acid, defective lipid metabolism
Organs affected: skin, CNS, eyes

32
Q

Why Sjogren-Larsson Syndrome itchy?

A

accumulation of leukotriene B4

33
Q

Sjogren-Larsson Syndrome CNS defects

A

MR
Spastic di-tetraplegia with scissor gait
Speech deficits
Epilepsy

Misc Derm (4 decks)

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