HIGH YIELD III

Question 1

extremely rare genetic disorder

• autosomal recessive
• cathepsin C gene

dry scaly plaques

extends to dorsal hands and feet, eyelids, the lips, the cheek

severe dental inflammation

• most permanent teeth lost by age 17
• severe hallitosis

urinary levels of enzyme cathepsin C

systemic retinoids

what is this?

Answer 1

papillon-lefevre syndrome

Question 2

what is this?

first ID’d on Croatian island

rare

palmoplantar keratoderma

• extends to dorsal hands and feet
• brachydactyly, nail dystrophy, perioral erythema and hyperhydrosis

autosomal recessive

Answer 2

Mal de Meleda

Question 3

what is this?

primary ainhum

• fibrotic band develops and progresses to auto amputation
• usually 5th toe bilaterally

secondary pseudo ainhum

• results as a secondary event from hereditary and non hereditary diseases
• -male de meleda

Answer 3

ainhum and pseudoainhum

Question 4

aka streeted syndrome

amniotic fibrous bands float in the amniotic fluid and fixed with surgical release, Z plasty

Answer 4

amniotic constricting bands

Question 5

name this?

pachyonychia congenita

pityriasis rubra pilaris

dariers disease

• autosomal dominant
• complete penetrance
• persistent eruption of red-brown, horny follicles, nail abnormalities, pitting of palms, mucosal changes

exacerbating factors like heat sweat and sun exposure

Answer 5

secondary palmoplantar keratoderma and treated with Johnsons foot soap soak

Question 6

differentiating dry skin?

Answer 6

xerosis
chronic stasis
ichthyosis 
keratodermas
dariers disease

Question 7

what is this?

ortho hyperkeratosis in the stratum corneum and reduced or absent granular layer

filaggrin gene
-inherited in an autosomal semi dominant fashion w/ incomplete penetrance

early onset

centrally tacked down scale with superficial fissuring

associated features

• flexural sparing
• worse on lower extremities
• hyperlinear palms
• keratosis pilaris
• atopy

Answer 7

ichthyosis vulgaris

Question 8

what is this?

profilaggrin is a major protein component of keratohyalin granules synthesized by stratum granulosum

filaggrin maintains epidermal flexibility

palm reading

Answer 8

profilaggrin defects

Question 9

what is this?

Adherent brick like hyperkeratotic plaques about the dorsal toe cleavage lines
-genetic desquamation dysfunction

Answer 9

acquired ichthyosis

Question 10

what is this?

aka bullous congenital ichthyosiform erythroderma

autosomal dominant disorder
-aggregation of keratin intermediate filaments in supra basal cells

Answer 10

Epidermolytic Ichthyosis

Question 11

what is this?

the most common sub type of Epidermolysis Bullosa

AKA weber cockayne EBS
-keratin gene mutation forms cleavage plane

secondary skin infections
-staph, strep, gram negative infections

wound care

anti friction measures

Answer 11

Epidermolysis Bullosa Simplex