18: Inherited Congenital Diseases - Smith Flashcards

1
Q

what is a genodermatosis?

A

hereditary skin diseases transmitted through the germ cells from one generation to the next

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2
Q

diffuse palmoplantar keratoderma could be …

A

tylosis or unna-thost syndrome

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3
Q

mutilating keratoderma

A

vohwinkel syndrome

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4
Q

describe diffuse palmoplantar keratoderma

A
  • thickening of palms and soles in early infancy or by 6 yo
  • smooth and uniform with eryhtematous border
  • hyperhydrosis and fissuring present
  • associated with esophageal CA, peptic ulcers and mucosa changes ****
  • tx with antikeratolytics, soften callus w/ urea callus
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5
Q

what skin condition is associated with esophageal CA, peptic ulcers and mucosa changes

A

diffuse palmoplantar keratoderma

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6
Q

describe mutilating keratoderma

A
  • appears in infancy
  • honeycomb surface
  • after age 5 constrictive bands develop around jts and autoamputation occurs (ainhum )
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7
Q

what is ainhum?

A

constrictive bands develop around joints and autoamputation occurs

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8
Q

describe punctate keratoderma

A
  • punctate, round and oval hard lesions on palms and soles
  • b/w 15 and 30 yrs of age
  • onychogryphosis and longitudinal fissuring of nail can occur
  • keratotic plugs
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9
Q

describe ichthyosis vulgaris

A
  • AD (lamellar is the recessive form)
  • not present at birth
  • begins b/w 1-4 yrs of age
  • small fine scales on trunk and arms
  • shiny appearance
  • large scales on legs
  • skin turnover rate less than normal, horny layer retained
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10
Q

lamellar ichthyosis

A
  • AR
  • scaling and erythema from birth
  • thin large scales that are gray-brown
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11
Q

bulla formation in response to light trauma (touching)

A

epidermolysis bullosa

- seen older because worsens as the skin ages

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12
Q

describe porokeratosis of mibelli

A
  • benign disorder of keratinization
  • plaques of hyperkeratosis with purplish/violaceous color**
  • irregular contour
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