Derm/HEENT

Question 1

What are findings of placental steroid sulfatase deficiency? how is it inherited?

Answer 1

• prolonged labor, cryptorchidism, corneal opacities, ichthyosis
• X-linked recessive

Question 2

What ichthyosis is associated with malodor and flexural involvement

Answer 2

Epidermolytic hyperkeratosis

Question 3

Which ichthyosis have no flexural involvement

Answer 3

Steroid sulfatase deficiency (X-linked rec) and ichthyosis vulgaris (auto dom)

Question 4

Triad of Sturge Weber?

Answer 4

port wine stain, seizures, glaucoma

Question 5

Main characteristic of Von Hippel-Lindau?

Answer 5

hemangiomas

Question 6

Triad of McCune Albright?

Answer 6

endo (esp. hyperthyroidism), bones (polyostotic fibrous dysplasia), and skin (cafe au lait)

Question 7

Triad of glaucoma?

Answer 7

photophobia, tearing, twitching

Question 8

Stages of IP?

Answer 8

1 - vesicular
2 - verrucous
3 - hyperpigmented
4 - hypopigmented

Question 9

4 things associated with corneal clouding?

Answer 9

glaucoma
mucopolysaccharidosis
forceps delivery
peters anomaly

NOT chorioretinitis

Question 10

MCC overall of sensorineural hearing loss?

MCC of genetic sensorineural hearing loss?

Answer 10

• CMV

- connexin mutation

Question 11

If an infant does not progress to the ____ stage of vocalization by ____ months, there is concern for hearing loss

Answer 11

• canonical/babbling (normally 6-9 months)

- 11 months

Question 12

If an infant has scaling or plaques in the diaper area that do not improve with anti-fungal, what should you think of?

Answer 12

psoriasis - tx with emollient and topical steroid

Question 13

what’s found in IP lesions?

Answer 13

eosinophils

Question 14

second MCC of stridor?

Answer 14

vocal cord paralysis (after laryngomalacia)

• usually due to cardiac surgery
• if bilateral - get MRI to look for Arnold-Chiari

Question 15

bullous impetigo vs. SSSS location?

Answer 15

Bullous impetigo - periumbilical, diaper region, axillae - bullae cultures staph +

SSSS - super erythematous; begins at the face and goes downward, sheds like a “glove”; bullae are sterile

Question 16

Clock hours needed for threshold ROP?

Answer 16

5 contiguous clock hours or 8 total clock hours with plus disease

Question 17

6 things with coloboma

Answer 17

Goldenhar, Treacher Collins, cat eye, CHARGE, trisomy 13, 13q deletion

Question 18

Other than infections, what metabolic disease can cause cataracts?

Answer 18

galactosemia

Question 19

2 things with glaucoma

Answer 19

Sturge Weber and NF