Dermatologic conditions

Question 1

Incontinentia Pigmenti

Answer 1

X-linked, typically male lethal but affected males have been reported with milder mutations/mosaicism (IKBKG) - mostly caused by a deletion
When mutations are de novo - usually paternal

Results in patchy hyperpigmentation (due to X-inactivation) - start as streaks of blisters that scab over and leave hyperpigmentation

Derm --> affects skin, hair, teeth, nails
Also affects EYE, CNS, Breast
DD, ID (not in everyone)
epilepsy
microcephaly

Question 2

Hypohydrotic/Anhidrotic Ectodermal Dysplasia

Answer 2

X-linked (EDA) in most cases, can be AD/AR
males more severely affected
Males - sparse/light hair, absent teeth, decreased ability to sweat leading to heat intolerance, normal nails, typically no intellectual impact
Females - mildly affected, 60-80% have hypotonia, peg shaped teeth, patchy sweating

Question 3

Hidrotic Ectodermal Dysplasia

Answer 3

AD, GJB6 - 100% attributed to 4 mutations that are ethnicity dependent

Normal sweating, partial or total absence of hair, nail hypoplasia, normal teeth

significant variable expressivity even within a family

Question 4

Hidrotic vs. Anhidrotic ED

Answer 4

Hidrotic - nail hypoplasia, normal teeth, normal sweating

Anhitrodic - absent teeth, absent sweating, normal nails

Question 5

Ellis van creveld syndrome

Answer 5

Nail dysplasia, hypodontia
dwarfism
post-axial polydactyly
congenital heart disease

AR
prevalent in: Amish, indigenous population of Australia

Question 6

EEC Syndrome

Answer 6

hypohidrotic ectodermal dysplasia
ectrodactyly (reduced number of digits)
cledting

AD

Question 7

Rapp Hodgkin Syndrome

Answer 7

hypodontia, hypohidrosis, hair abnormalities
clefting
unusual facies

msotly AD

Question 8

What ectodermal dysplasia is caused by 4 mutations that are ethnicity dependent?

Answer 8

Hidrotic ED

Question 9

What causes the patchy pigmentation in IP?

Answer 9

X-inactivation

Question 10

T/F Males can be affected with IP

Answer 10

T - but rarely (there have been reports of mosaicism/milder mutations that are not lethal in males

Question 11

Epidermolysis Bullosa Simplex

Answer 11

Part of group of genetic disorders characterized by skin fragility and bullous lesions secondary to friction or trauma

Healing without scarring

primary treatment - preventing infection and treating wounds

Question 12

Junctional Epidermolysis Bullosa

Answer 12

Part of group of genetic disorders characterized by skin fragility and bullous lesions secondary to friction or trauma

Has mild to severe presentation
in severe cases: 
50% mortality in childhood
blistering of skin, esophagus, oral mucosa, airway
dental hypoplasia
growth retardation
scarring

AR, multiple genes

need to be followed by multiple specialists - feeding, PT, nutritional support, in addition to caring for the wounds which can present at birth and very early on in the neonatal period

Question 13

Dysmorphic Epidermolysis Bullosa

Answer 13

Part of group of genetic disorders characterized by skin fragility and bullous lesions secondary to friction or trauma

Dominant: blisters resulting in scarring, mild mucosal invovlement, nail dystrophy
Recessive: severe scarring resulting in the fusion of fingers and toes, life-threatening bullous disease, esophageal involvement resulting in stenosis, dental caries, nail dystrophy, growth retardation