Peds Derm Topics Flashcards
Birthmark Patterns
Lines of BLaschko
Distribution of nerves
Facial segments
Café-au-lait Macules
Birthmark very common in 2.5% of newborns
More common in AA infants
Diagonstic Criteria for Neurofibromatosis-1
- Six CALMs >/= 0.5 cm before puberty, >=/ 1.5 cm after
- Plexiform neurofibroma for 2 dermal neurofibromas
- Freckling of axillary and/or inguinal areas
- Two or more Lische nodules
- Optic nerve glioma
- Pathognomonic skeletal dyslplasia (tibial or sphenoid wing dysplasia)
- Affected 1st-degree relative
Juvenile Xanthogranulomas
Associated with juvenile myelomonocytic leukemia and NF1
Segmental Pigmentation Disorder
Block-like pigmentation at midline demarcation
Could be a large CALM or a marker for McCune-Albright, slpeckled lentiginous nevus, or segmental NF-1
McCune-Albright Syndrome
Sporadic, postzygotic mutations in GNAS1
Large CALMs - well demarcated
Polyostotic fibrous dysplasia
Precocious puberty
Segmental NF-1
Large segmental CALM with smaller spots within
Beware if eye manifestations
Epidermal Nevi
Benign hyperplasia of epidermal structures
Lines of Blaschko
First decade of life
Epidermal Nevus Syndrome
Dysmorphic, CNS disease, seizures
HRAS/KRAS genes causing disorders
Epidermolytic ichthyosis
Born to individuals for epidermal nevi who have epidermalytic hyperkeratosis
born red and scaly and blistering
Congenital Nevi
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
Types of Vascular Lesions
tumors - hemangiomas
malformations - capillary malformations
Capillary Malformations
port wine stains - activating mutation in GNAQ gene
trigeminal nerve - V1, V2, V3
Sturg-Weber Syndrome
has capillary malformations
V1 capillary malformation
Glaucoma
Seizures
Macrocephaly-Capillary Malformation (M-CM)
Macrocephaly (>95%)
Facial midline port wine stain (CM)
Infantile hemangiomas
Common birthmarks flat at birth
Proliferates in first months of live and involute slowly over years
High risk for airway hemangioma (beard area)
Types of Hemangiomas
Superficial hemangiomas - red lesions
Deep hemangiomas - blue nodules
Mixed/combined
Locations - focal/localized or segmental (larger)
Segmental Hemangiomas
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
Occult Spinal Dysraphism (OSD)
Spinal chord defect
Deviated gluteal cleft
Hemangioma in the lumbosacral area
HD OSD
Lumbar Syndrome
Lower body hemangiomas
Lipoma or other cutaneous abnormality
Urogenital anomalies
Myelopathy
Bony deformities
Anorectal deformities
Arterial anomalies
Renal anomalies
Orange and Skin-colored Birthmarks
Nevus Sebaceous
Aplasia Cutis Congenita
Dermoid Cysts
Nevus Sebaceous
Linear, waxy yellow-orange plaques
Can get benign neoplasias
HRAS mediated
Aplasia Cutis Congenita
Most common on scalp
Bony defects underlying lesion
“hair collar sign” may signify regressed cephalocele
Dermoid Cysts
Developmental defect over scalp suture lines, lateral eyebrows, or midline face
Midline lesions associated with CNS connection
