21 - 131 - ECTODERMAL DYSPLASIAS

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Question 15

What is the most common ectodermal dysplasia?
a. Hypohidrotic Ectodermal Dysplasia

b. Hidrotic Ectodermal Dysplasia
c. P63-Related Ectodermal Dysplasia
d. Focal Dermal Hypoplasia

Answer 15

A
Page 2373. HED is the most common ED,9 specifically the Xlinked recessive (XLHED) form of HED, and accounts for 80% of the families registered with NFED.

Question 16

True about Hidrotic Ectodermal Dysplasia except:

a. The scalp hair is wiry, brittle, and pale, and there is often patchy alopecia.
b. Teeth are abnormal.
c. Hidrotic ED is autosomal dominant with variable expression.
d. The disorder is caused by mutations in a connexin gene, GJB6, which encodes the intercellular junction protein connexin 30.

Answer 16

B

Page 2378. In contrast to HED, sweating is normal, as are the teeth

Question 17

Ankyloblepharon filiforme adnatum (strands of skin between the eyelids is seen in what ectodermal dysplasia syndrome.

a. AEC (Hay-Wells/Rapp-Hodgkin) Syndrome
b. Hypohidrotic Ectodermal Dysplasia
c. Hidrotic Ectodermal Dysplasia
d. P63-Related Ectodermal Dysplasia

Answer 17

a. AEC (Hay-Wells/Rapp-Hodgkin) Syndrome

Page 2379. Ankyloblepharon filiforme adnatum (AFA), the term for strands of skin between the eyelids, is seen in approximately 70% of affected infants.

Question 18

An adopted female child was referred to your clinic for further evaluation of a possible syndrome. On cutaneous examination, there is linear, punctate, streaky cribriform atrophy, with telangiectasia distributed along the lines of Blaschko.. On the review of ROS, the skeleton, CNS, teeth, and eyes were also involved. Which is the appropriate diagnosis for this child?

a. Incontinentia pigmenti
b. Tooth and nail syndrome (Witkop Syndrome)
c. Focal Dermal Hypoplasia (Goltz-Gorlin Syndorme)
d. Oculo-Dento-Digital Dysplasia

Answer 18

c. Focal Dermal Hypoplasia (Goltz-Gorlin Syndorme)

Page 28=384. Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome). Cutaneous features: Blaschkoid dermal atrophy with fat herniations; progressive papillomas; patchy alopecia. Extracutaneous features: microphthalmia and colobomas; oligodontia and enamel defects; numerous skeletal anomalies including syndactyly and osteopathia striata; developmental delays in 15%

Question 19

What are the 4 stages of skin lesions in incontinentia pigmenti in order?

a. Inflammatory stage, Hyperpigmentation stage, Verrucous stage, Hypopigmentation stage
b. Inflammatory stage, Verrucous stage, Hyperpigmentation stage, Hypopigmentation stage
c. Hyperpigmentation stage, Inflammatory stage, Verrucous stage, Hypopigmentation stage
d. Hyperpigmentation stage, , Hypopigmentation stage, Inflammatory stage, Verrucous stage

Answer 19

B

Page 2386. There are 4 characteristic stages of skin lesions, all of which occur along the lines of Blaschko. Not every stage may occur, and some stages may overlap.

Stage I: Perinatal inflammatory stage with erythema, vesicles, and pustules with individual lesions lasting for several days to weeks. Present at birth in 50% and by 2 weeks of age in 90%. Typically resolves by 4 to 6 months, but may have recurrences with illnesses.

Stage II: Verrucous and hyperkeratotic papules persistent for several weeks to months, with reports of it lasting up to years.

Stage III: Hyperpigmentation that usually presents around 6 months of age and persists for several years, with reports of persistence into adulthood. Highly variable extent, often unrelated to the distribution in the previous stages. Most frequently involves the groin and axillae.

Stage IV: Hypopigmentation and atrophy in previously affected areas. Starts with the resolution of the previous stages and lasting into adulthood.