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12/14 birthmarks in babies
Derm
53
Medical
Graduate
12/15/2011

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Term
defining the term birthmark
Definition
a mark or lesion on the skin evident at birth or shortly thereafter

onset may be delayed (0-10 years)

usually not hereditary

often permanent
Term
what is a birthmark
Definition
an excess, deficiency, or abnormality of one or more of the normal skin components of the skin:

-blood vessels, lymph vessels, pigment cells, hair follicles, sebaceous glands, epidermis, collagen, elastin
Term
types of birthmarks
Definition
vascular

pigment cell

pigment
Term
types of vascular birthmarks
Definition
salmon patch

port wine stain

hemangiomas
Term
salmon patch - nevus simplex

prevalence
Definition
-most commmon birthmark, especially of the vascular type
-30-40% of newborns
Term
salmon patch

type and location
Definition
flat, dull pink lesion

nape of neck, occiput, glabella, upper eyelids

forehead - characteristic V-shaped pattern
Term
salmon patch

course
Definition
95% of non-nuchal fade with time
50% of nuchal lesions persist

benign, no tx needed
Term
salmon patch

etiology
Definition
capillary malformation

dilated fetal capillaries
Term
port wine stain - nevus flammeus

etiology
Definition
capillary malformation - dilated mature capillaries
Term
port wine stain

lesion and location
Definition
persistent, no involution

initially flat, pink/rose color

face, extremities; usually unilateral
Term
port wine stain

course
Definition
progressive darkening, thickening, nodularity
Term
port wine stain

treatment
Definition
pulse dye laser
-targets hemoglobin
Term
port wine stain associations
Definition
with certain distributions along the trigeminal nerve:
V1 & V2: glaucoma risk
V1: Sturge-Weber

soft tissue or bone overgrowth

with limb involvement: Klippel-Trenaunay
Term
Sturge-Weber syndrome
Definition
facial port wine stain in V1 distribution (+/- other areas)

CNS involvement

eye abnormalities
Term
hemangiomas

etiology and prevalence
Definition
benign vascular growth; proliferation of endothelial cells

often not seen at birth

female>male

preterm, low BW infants
Term
natural course of hemangiomas
Definition
-rapid proliferative phase
-stabilization/plateau
-spontaneous slow involution
Term
residual skin changes of hemangiomas
Definition
20-50% leave residual skin changes
-pallor, atrophy, telangiectasias, texture change

max of 50% regression by 5 years, 90% regression by 9 years
Term
hemangioma complications
Definition
painful ulcerations of center position can occur

obstruction of vital function

psychosocial concerns

high output cardiac failure (rare in solitary cutaneous lesions)
Term
problematic/high risk locations for hemangiomas
Definition
lips, perineum, nose, caervicofacial/"beard", periorbital, parotid, ear, lumbrosacral
Term
neonatal hemangiomatosis
Definition
5 or more hemangiomas

benign and disseminated varieties
Term
benign neonatal hemangiomatosis
Definition
no visceral involvement

benign course - rapid involution of lesions on their own
Term
disseminated neonatal hemangiomatosis
Definition
hemangiomas of at least 3 separate organ systems

liver most common
Term
hemangioma treatment
Definition
active, non-intervention
local wound care, pain management
pulse dye laser
systemic corticosteriods
Term
vascular birthmarks that may need further evaluation
Definition
-PWS in V1 distribution
-hemangiomas involving critical apertures (eyes, nose, mouth, urethra, rectum)
-very large hemangiomas
-multiple (>5) hemangiomas
-lesions overlying the midline or lumbosacral area
Term
vascular birthmarks which may need treatment
Definition
-port wine stains
-ulcerated hemangiomas
-hemangiomas interfering with any vital function
-massive or multiple lesions associated with thrombocytopenia, coagulopathies, CHF
-lesions potentially cosmetically disfiguring
Term
type of pigment cell birthmarks
Definition
dermal melanocytosis

cafe-au-lait macule

congenital melanocytic nevus

ash leaf macule
Term
dermal melanocytosis

etiology/prevalence
Definition
("Mongonlian spots")

melanocytes in dermis

>80% in African-American and Asian infants
Term
dermal melanocytosis

lesion and location
Definition
slate blue/gray/black

buttocks, sacrum
Term
dermal melanocytosis

course
Definition
benign

most fade by puberty

can be confused for child abuse
Term
cafe-au-lait macule (CALM)

etiology
Definition
normal number of melanocytes, but increased amount of melanin

present at birth or develop later
Term
cafe-au-lait-macule

lesion
Definition
flat, discrete

round/oval

light tan-brown

few mm to many cm in size
Term
cafe-au-lait macule associations
Definition
most often without associations, but may be markers for genetic disease

5 or less: usually not significant

6 or more: consider neurofibromatosis

large with jagged edges: consider McCune-Albright syndrome
Term
congenital melanocytic nevus

etiology/prevalence
Definition
"birthmark mole"

nests of melanocytes

present at birth or within first year of life
Term
congenital melanocytic nevus

lesion
Definition
size definition based on estimated adult size: small, medium (1.5-20cm), large

variable color, border, surface, hair

may have increased dark hairs (making monitoring difficult)
Term
small and medium CMN
Definition
melamona risk uncertain

management controversial, individualized
Term
large CMN
Definition
6-8% lifetime risk of melanoma
-greatest risk in first decade
-axial location higher risk
-increase number of satellite lesions higher risk

scalp, dorsal axis/lumbrosacral lesions (CNS risks)

needs individualized management
Term
ash leaf macule

etiology and prevalence
Definition
normal number of melanocytes, decreased melanin (opposite of cafe-au-lait)

present at birth or develop later
Term
ash leaf macule
Definition
hypopigmented macules (UV Woods lamp may help to visualize on exam)

most 1-3cm with irregular margins

oval or "ash leaf shaped"
Term
ash leaf macule associations
Definition
3 or more lesions = tuberous sclerosis
Term
tuberous sclerosis
Definition
neurocutaneous syndrome featuring classic triad of: seizures, mental deficiency, skin lesions
Term
pigment cell birthmarks which may need evaluation
Definition
large lesions

multiple lesions

lesions overlying scalp, dorsal axis, lumbrosacral area (risk of underlying CNS manifestations)
Term
pigment cell birthmarks which may need treatment
Definition
consideration of surgical excision of congenital melanocytic nevi based on many factors:

appearance and location - ease of observation, risk of melanoma, risks and ease of surgical removal, functional/cosmetic impact of surgery
Term
types of epidermal birthmarks
Definition
epidermal nevus

nevus sebaceous

connective tissue nevus

aplasia cutis congenita
Term
epidermal nevus

etiology and prevalence
Definition
warty-like overgrowth of epidermis

present at birth or early chilhood (lesion may extend with time)
Term
epidermal nevus

lesion
Definition
wart-like

often linear

solitary or extensive
Term
epidermal nevus associations
Definition
extensive lesions may be associated with CNS, skeletal, ocular, cardiac abnormalities
Term
connective tissue nevus

etiology and prevalence
Definition
increased dermal collagen and/or elastin

usually appear in childhood/adolescence

isolated defect or AD inheritence
Term
connective tissue nevus

lesion and location
Definition
flesh colored-yellow nodules or plaques

"cobblestone" or "oragne peel" surface

trunk>extremities

no malignant potential
Term
aplasia cutis congenita

etiology and prevalence
Definition
localized absence of skin

present at birth
Term
aplasia cutis congenita

lesion and location
Definition
most commonly at vertex of scalp

heals with thin scar

majority of small, typical lesions without associated abnormalities
Term
epidermal birthmarks which may need evaluation
Definition
lesions that may be associated with a syndrome

large, extensive lesions

multiple lesions
Term
epidermal birthmarks which may need treatment
Definition
nevus sebaceous consider excision

cosmetically disfiguring lesions

local wound care for aplasia cutis
Term
in general, birthmarks which may require evaluation and/or treatment include:
Definition
large, extensive lesions
multiple lesions
lesions with increased malig potential
lesions that may be assc w/ a syndrome
PWS in V1 distribution
lesions overlying scalp, midline, L/S spine
lesions compromising a vital function
ulcerated or cosmetically disfiguring
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