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BOARD Exam > Week 5: Medical Genetics- Genodermatoses > Flashcards

Week 5: Medical Genetics- Genodermatoses Flashcards

1
Q

Inheritance of ichthyosis vulgaris

A

AD

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2
Q

Skin features of ichthyosis vulgaris

A

Prominent white scale, hyperlinear palms

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3
Q

Inheritance of X-Linked Ichthyosis

A

XLR

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4
Q

Skin features of X-Linked Ichthyosis

A

brown, adherent scales

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5
Q

What analyte on quad screen could indicate XL ichthyosis

A

LOW uE3

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6
Q

Inheritance of epidermolytic ichthyosis

A

AD

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7
Q

Skin features of epidermolytic ichthyosis

A

Denuded skin w/ or w/out blistering

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8
Q

Inheritance of Lamellar Ichthyosis

A

AR

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9
Q

Skin findings in newborn with Lamellar ichthyosis

A

Collodion baby

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10
Q

Skin findings in adult with lamellar ichthyosis

A

diffuse, large, dark plate-like scales

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11
Q

Inheritance of Harlequin Ichthyosis

A

AR

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12
Q

U/s finding in fetus with Harlequin Ichthyosis

A

snowflake sign

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13
Q

Skin findings in Harlequin ichythosis

A

Massive hyperketatotic, diamond-shaped plates with deep fissures

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14
Q

Inheritance of epidermolysis bullosa simplex

A

AR

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15
Q

Skin features in EBS

A

Blistering of skin

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16
Q

Inheritance of junctional EB

A

AR

17
Q

3 features of JEB

A

Blistering of skin, hoarse cry, bad teeth

18
Q

Inheritance of Recessive Dystrophic Epidermolysis Bullosa

A

AR

19
Q

2 features of RDEB

A

Blistering of skin, mitten deformity

20
Q

Inheritance of NF1

A

AD

21
Q

Skin findings in NF1

A

CALs, neurofibromas, axillary/inguinal freckling

22
Q

Inheritance of Legius Syndrome

A

AD

23
Q

Skin findings in Legius Syndrome

A

CALs, freckling

24
Q

Inheritance of TSC

A

AD

25
Q

Skin findings in TSC

A

Ashleaf macules, shagreen patches, angiofibromas, periungunal fibromas

26
Q

Inheritance of Incontinetia Pigmenti

A

XLD

27
Q

4 stages of skin problems in Incontinetia Pigmenti

A

Vesicular–> verrucous–> pigmentary–> atrophic

BOARD Exam (28 decks)

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