December 2, 2015 - Pediatric Skin

Question 1

Vitiligo

Answer 1

Acquired pigmentary disorder. White macules and patches appear secondary to selective loss of melanocytes in the skin / mucous membranes.

50% of the time, age of onset is under 20 years old.

Can occur as a Koebner Phenomenon (occurs at injured sites)

Question 2

Vitiligo Universalis

Answer 2

When over 80% of the body surrface is covered

Least common type of vitiligo

Question 3

Vitiligo - Treatment

Answer 3

Topically sunscreens, corticosteroids, vitamin D analogues, and calcineurin inhibitors can work.

Ultraviolet therapy can work as well

Question 4

Halo Nevus

Answer 4

Nevus surrounded by a halo of depigmentation

+/- white hairs in depigmented area

Common in children, more worrisome in adults

Question 5

Angiofibromas

Answer 5

Occurs in 70-90% of patients with Tuberous Sclerosis.

Reddish-brown smooth papules with a centro-facial distribution. Hundreds can occur and expect increased numbers with age.

Question 6

Tuberous Sclerosis

Answer 6

Incidence of 1:6000

1/3 are autosomal dominant, while 2/3 are sporadic

Patients have Hamartomatous tumors in multiple organs such as the brain, heart, kidney, skin, lungs, eyes. These are benign, but may cause problems.

Classic triad of seizures, mental retardation and skin lesions.

Question 7

Ungal Fibromas (Koenen Tumors)

Answer 7

Affects 88% of tuberous sclerosis cases.

Toes are affected more than fingers. Periungal or subungal growths on the toes.

Question 8

Neurofibromatosis

Answer 8

Incidence of 1:3000

Autosomal dominant 50% or sporadic 50%

NF-1 gene that is a tumor suppressor is affected. This encodes Neurofibromin which inhibits the RAS proteins involved in regulation of cell proliferation.

All patients will have “Cafe au Lait spots”

Patients have neurofibromas too (benign tumor of nerve sheath)

Patients will have Lisch Nodules in eyes too

The elephant man had neurofibromatosis.

Question 9

Lisch Nodules

Answer 9

Slight raised well-circumscribed melanocytic hamartomas of the iris.

This is pathognomonic for neurofibromatosis

Question 10

Neurofibromatosis - Prognosis

Answer 10

Lifelong and progressive

Phenotype is highly variable

Average life expectancy reduced by 15 years

Increased risk of malignancy for the peripheral nerve shealth tumors, pheochromocytoma, as well as CML, and ALL

Neurobehavioural problems are common

Question 11

Mastocytoma

Answer 11

Is a mast cell tumor.

Mast cell granules contain histamine.

Usually occurs in young children.

Usually spontaneously resolves over a few years.