18 - Inherited Congenital Diseases

Question 1

Genodermatoses

Answer 1

• Hereditary skin diseases transmitted through the germ cells from one generation to the next
• A lot of these conditions follow Mendelian genetics

Question 2

Classification of genodermatoses

Answer 2

o Autosomal or sex linked

o Dominant or recessive

Question 3

Dominant genodermatoses

Answer 3

o Less severe
o Compatible with life
o Frequent
o Later onset in life

Question 4

Recessive genodermatoses

Answer 4

o Disabling
o Often incompatible with life
o Less frequent

Question 5

3 different types of palmoplantar keratodermas

Answer 5

• Diffuse palmoplantar keratoderma (tylosis, AKA Unna-Thost syndrome)
• Multilating keratoderma (Vohwinkel syndrome)
• Puncate keratoderma

Question 6

Describe diffuse palmoplantar keratoderma

Answer 6

• Thickening of palms of HANDS and soles of FEET*** in early infancy or by six years old
• Smooth and uniform with erythematous border
• Hyperhydrosis (excessive sweating) and fissuring present
• Associated with esophageal CA***, peptic ulcers and mucosa changes
• There are some callus softening treatments that can be offered (urea cream, debridement, pumus stone)

Question 7

Multiating keratoderma

Answer 7

AKA Ainhum

• Keratoderma appears in infancy with honeycomb surface of skin
• After age five constrictive bands develop around joints and autoamputation occurs
• There is another syndrome you can see in infants where a piece of hair or a string or something gets imbedded in the skin and causes a similar appearing
• The difference is that this will give an inflammatory reaction, the genetic disease will not

Question 8

Punctate keratoderma

Answer 8

• Punctate, round and oval hard lesions on palms and soles
• Between 15 and 30 years of age
• Onychogryphosis and longitudinal fissuring of nail can occur
• Punctate, round and oval hard keratotic lesions
• Keratotic plugs
• Develops between 15 and 30 years of age

Question 9

2 types of ichthyosiform dermatosis

Answer 9

o Ichthyosis Vulgaris

o Lamellar Ichthyosis

Question 10

Ichthyosis vulgaris

Answer 10

DOMINANT FORM

• Autosomal dominant
• Not present at birth
• Begins between 1 and 4 years of age
• Small fine scales on trunk and arms (“fish scaling”) – almost a shiny appearance
• Large scales on legs
• Skin turnover rate less than normal, horny layer retained

Question 11

STUDY: A systematic review of clinical trials of treatments for the congenital ichthyoses

Answer 11

• Level 1 study – Systematic review of randomized controlled clinical trials
• Found that topical treatments of emollients (***urea, proylene glycol, lactic acid) showed therapeutic benefit
• Small sample sizes (slight downfall of the study)

Question 12

Lamellar icthyosis

Answer 12

RECESSIVE FORM

• Autosomal recessive
• Scaling and erythema from birth – thin large scales that are gray-brown
• If you see the cross-grid appearance on skin, you NEED to think ichthyosis
• Often not compatible with life

Question 13

Epidermolysis bullosa

Answer 13

Bulla formation in response to trauma

Example
o There was a patient where every time they were touched, they would get a blister
o Need a lot of wound care, a lot of dressing
o If you have a band-aid on then remove it, it would leave a blister
o Usually have multiple wounds everywhere
o Infections can develop
o There are all different types of bedding options in hospitals and at home – usually will end up on an air mattress

Question 14

Porokeratosis of Mibelli

Answer 14

• Benign disorder of keratinization
• Plaques of hyperkeratosis form
• Irregular contour of the plaques
• The “buzz word” is purplish coloration or violet coloration
• Very uncommon – Dr. Smith has not seen this