Fast Facts for Board Review

Pediatric Photosensitivity Disorders

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Practice Question Answers
1. Which photosensitivity disorder is characterized by decreased immunoglobulin-mediated immunity?

a. Bloom syndrome

b. Cockayne syndrome

c. hydroa vacciniforme

d. Kindler syndrome

e. poikiloderma congenitale

2. Which of the following is an inappropriate treatment for a young Mexican girl with cheilitis and treatment-resistant chronic pruritic crusted papules and scars on both sun-exposed and nonexposed sites?

a. oral isotretinoin

b. oral prednisone

c. oral thalidomide

d. topical calcineurin inhibitors

e. topical corticosteroids

3. Which gene is mutated in a patient with a history of congenital acral blistering and then gradual onset of cutaneous atrophy and fragility, oral lesions, and photosensitivity?

a. DHCR7

b. KIND1

c. RECQL4

d. SLC6A19

e. XPD

4. Which photosensitivity disorder is associated with an increased risk for osteosarcoma?

a. actinic prurigo

b. Rothmund-Thomson syndrome

c. Smith-Lemli-Opitz syndrome

d. trichothiodystrophy

e. xeroderma pigmentosum

5. All of the following are features seen in De Sanctis-Cacchione syndrome except:

a. ataxia

b. basal ganglion calcification

c. deafness

d. hypogonadism

e. short stature

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