Pediatric Photosensitivity Disorders

Review the PDF of the fact sheet on pediatric photosensitivity disorders with board-relevant, easy-to-review material. This month's fact sheet will review important disorders in the pediatric population where photosensitivity is a major feature

Practice Questions

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

Answers to practice questions provided on next page

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

Review the PDF of the fact sheet on pediatric photosensitivity disorders with board-relevant, easy-to-review material. This month's fact sheet will review important disorders in the pediatric population where photosensitivity is a major feature

Practice Questions

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

Answers to practice questions provided on next page

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

Review the PDF of the fact sheet on pediatric photosensitivity disorders with board-relevant, easy-to-review material. This month's fact sheet will review important disorders in the pediatric population where photosensitivity is a major feature

Practice Questions

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

Answers to practice questions provided on next page

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