Peds Derm Topics

Question 1

Birthmark Patterns

Answer 1

Lines of BLaschko

Distribution of nerves

Facial segments

Question 2

Café-au-lait Macules

Answer 2

Birthmark very common in 2.5% of newborns

More common in AA infants

Question 3

Diagonstic Criteria for Neurofibromatosis-1

Answer 3

1. Six CALMs >/= 0.5 cm before puberty, >=/ 1.5 cm after
2. Plexiform neurofibroma for 2 dermal neurofibromas
3. Freckling of axillary and/or inguinal areas
4. Two or more Lische nodules
5. Optic nerve glioma
6. Pathognomonic skeletal dyslplasia (tibial or sphenoid wing dysplasia)
7. Affected 1st-degree relative

Question 4

Juvenile Xanthogranulomas

Answer 4

Associated with juvenile myelomonocytic leukemia and NF1

Question 5

Segmental Pigmentation Disorder

Answer 5

Block-like pigmentation at midline demarcation

Could be a large CALM or a marker for McCune-Albright, slpeckled lentiginous nevus, or segmental NF-1

Question 6

McCune-Albright Syndrome

Answer 6

Sporadic, postzygotic mutations in GNAS1

Large CALMs - well demarcated

Polyostotic fibrous dysplasia

Precocious puberty

Question 7

Segmental NF-1

Answer 7

Large segmental CALM with smaller spots within

Beware if eye manifestations

Question 8

Epidermal Nevi

Answer 8

Benign hyperplasia of epidermal structures

Lines of Blaschko

First decade of life

Question 9

Epidermal Nevus Syndrome

Answer 9

Dysmorphic, CNS disease, seizures

HRAS/KRAS genes causing disorders

Question 10

Epidermolytic ichthyosis

Answer 10

Born to individuals for epidermal nevi who have epidermalytic hyperkeratosis

born red and scaly and blistering

Question 11

Congenital Nevi

Answer 11

melanoma risk

small < 1.5 cm

medium 1.5-19.9 cm

large > 20 cm

giant >20cm and covering a large portion of the body surface - often have satellite nevi

the larger the nevi, the higher the risk

giant nevi associated with neurocutaneous melanosis, which causes sizures, hydrocephalus, and developmental delays

Question 12

Types of Vascular Lesions

Answer 12

tumors - hemangiomas

malformations - capillary malformations

Question 13

Capillary Malformations

Answer 13

port wine stains - activating mutation in GNAQ gene

trigeminal nerve - V1, V2, V3

Question 14

Sturg-Weber Syndrome

Answer 14

has capillary malformations

V1 capillary malformation

Glaucoma

Seizures

Question 15

Macrocephaly-Capillary Malformation (M-CM)

Answer 15

Macrocephaly (>95%)

Facial midline port wine stain (CM)

Question 16

Infantile hemangiomas

Answer 16

Common birthmarks flat at birth

Proliferates in first months of live and involute slowly over years

High risk for airway hemangioma (beard area)

Question 17

Types of Hemangiomas

Answer 17

Superficial hemangiomas - red lesions

Deep hemangiomas - blue nodules

Mixed/combined

Locations - focal/localized or segmental (larger)

Question 18

Segmental Hemangiomas

Answer 18

Large and plaque-like

Dfined facial territories

At risk for complications such as PHACE Syndrome

Posterior fossa malformation

Hemangioma

Arterial anomalies

Coarctation of the aorta/cardiac defects

Eye abnormalities

Sternal clefting or supraumbilical abdominal raphe

Propranolol treatment

Question 19

Occult Spinal Dysraphism (OSD)

Answer 19

Spinal chord defect

Deviated gluteal cleft

Hemangioma in the lumbosacral area

HD OSD

Question 20

Lumbar Syndrome

Answer 20

Lower body hemangiomas

Lipoma or other cutaneous abnormality

Urogenital anomalies

Myelopathy

Bony deformities

Anorectal deformities

Arterial anomalies

Renal anomalies

Question 21

Orange and Skin-colored Birthmarks

Answer 21

Nevus Sebaceous

Aplasia Cutis Congenita

Dermoid Cysts

Question 22

Nevus Sebaceous

Answer 22

Linear, waxy yellow-orange plaques

Can get benign neoplasias

HRAS mediated

Question 23

Aplasia Cutis Congenita

Answer 23

Most common on scalp

Bony defects underlying lesion

“hair collar sign” may signify regressed cephalocele

Question 24

Dermoid Cysts

Answer 24

Developmental defect over scalp suture lines, lateral eyebrows, or midline face

Midline lesions associated with CNS connection