II. Definitions
- Birthmarks
- Skin abnormalities that are noted at birth (or shortly thereafter)
- Types
- Vascular Birthmarks (e.g. Hemangiomas)
- Pigmented Birthmarks (e.g. Congenital Melanocytic Nevus)
- Skin Markers of Spinal Dysraphism
- Melanocytic Lesions (Pigmented Lesions)
- Displaced Melanocytes or Melanocytes with atypical growth
III. Findings: Normal - Transient (resolves in minutes to hours)
- Miliaria (Heat Rash)
-
Petechiae
- Scalp and face after vertex delivery
- Vernix Caseosa
- Cheesy white skin covering present at birth
- Transient vascular phenomena
- Cutis Marmorata (skin mottling related to cold exposure)
- Harlequin Color Change (positional erythema on the dependent side of the body)
IV. Findings: Normal - Short-term (resolves in days to months)
-
Erythema Toxicum Neonatorum
- Yellow Papules (eos) on red base affected face and trunk, disappearing within days to a week
- Differentiate from Neonatal HSV
- Neonatal Pustular Melanosis
-
Milia
- Pinpoint white, keratin-filled Papules (blocked Sebaceous Glands) on nose and cheeks
- Spontaneously rupture and resolve within the first few weeks of life
- Sucking Blister
- Develops from infant sucking on skin
- Lanugo
- Fine hair on Shoulders and back
- Spontaneous Fat Necrosis
- Acne Neonatorum
V. Findings: Normal - Birthmarks, Long-term (Persists for months to years - some do not resolve)
- Vascular
- Important vascular Birthmarks (e.g. Nevus Flammeus) are described under abnormal findings below
- Nevus Simplex (Salmon Patch)
- Macular pink to red capillary dilations that fade with time
- Occurrs on the upper Eyelids, forehead, and nape of neck (Stork bite)
- Differentiate from Nevus Flammeus
- In rare cases, may be associated with Genetic Syndromes
- Hemangioma
- Benign vascular lesions
- May result in focal obstruction (esp. airway Hemangioma)
- Pigmented or Melanocytic
- Important pigmented Birthmarks (e.g. Congenital Melanocytic Nevi) are described under abnormal findings below
- Mongolian Spots (Dermal Melanosis)
- Large (up to 10 cm) bluish-gray pigment patches on extremities as well as lumbar, sacral and buttock region
- Occurs with darker skin (black, hispanic and native american)
- Smooth Muscle Hamartoma
- Hyperpigmentation and Hypertrichosis overlies a firm nodular base
- Distinguish from Congenital Malanocytic Nevus (biopsy needed to differentiate)
VI. Findings: Abnormal - Birthmarks
- See Skin Markers of Spinal Dysraphism
- Vascular
- Nevus Flammeus (port wine stain)
- Dark purple or red capillary malformation that does not typically fade
- Refer to ophthalmology if involvement near the eye
- Associated Conditions
- Sturge-Weber Syndrome (trigeminal region)
- Klippel-Trenaunay-Weber Sydrome (extremity)
- Nevus Flammeus (port wine stain)
- Pigmented
- Congenital Melanocytic Nevi
- Nevus Sebaceus
- Yellow hairless Plaque on scalp or face
- May be associated with epidermal nevus syndrome and carries risk of future Skin Cancer in 10-15% of cases
- Cafe-Au-Lait Macule
- "Coffee with milk" (tan to brown) colored flat Macule
- Size <4 cm in infants and up to 30 cm in adults
- Usually located on the trunk
- Six of more lesions (>5 mm prepubertal, >15 mm postpubertal) associated conditions
- Neurofibromatosis
- Tuberous Sclerosis
- Albright Syndrome
- "Coffee with milk" (tan to brown) colored flat Macule
VII. Findings: Important Infections
-
Congenital Candida
- Rare, but serious infection with risk of disseminated candidemia
- Onset at birth or in the first week of life
- Diffuse erythematous, desquamating maculopapular or papulopustular dermatitis
- Diagnosis with a Potassium Hydroxide preparation (KOH prep) showing pseudohyphae or spores
- Early systemic Antifungals prevents progression to disseminated candidemia
-
Neonatal Herpes Simplex Virus
- Vesicular Lesions in infant born to mother with HSV (maternal HSV is often occult and unrecognized)
- Early, emergent IV Acyclovir is critical to reduce complications (e.g. Encephalitis)
-
Congenital Cytomegalovirus (Congenital CMV)
- Asymptomatic at presentation in 90% newborns
- Petechiae may be present (associated with Thrombocytopenia)
- Risk of longterm neurodevelopmental delay and Hearing Loss
- Congenital Syphilis
- Neonatal Scabies
- Infants have more severe, diffuse cases that may result in Failure to Thrive
- Staphylococcal Scalded Skin Syndrome
- Impetigo
VIII. Findings: Abnormal Skin Coloration
- Pallor
- Jaundice onset within first day of life
- Cyanosis
- Mottling
- Consider Sepsis, Hypothermia
- Distinguish from the normal Cutis Marmorata, Harlequin Color Change
- Gray Skin Coloration
- Acidosis (Inborn Errors of Metabolism)
IX. Findings: Other Skin Findings
- See Cutaneous Signs of Dysraphism
-
Neonatal Pustules and Vessicles
- See Neonatal Pustules and Vessicles
-
Vesicles
- Consider Neonatal HSV
- Distinguish from Erythema Toxicum Neonatorum
-
Bullae
- Consider Bullous Impetigo
-
Aplasia Cutis Congenita
- May be associated with skull deformities
X. References
- Claudius and Behar in Herbert (2020) EM:Rap 20(8): 5-7
- O'Connor (2008) Am Fam Physician 77(1): 47-52 [PubMed]
- Snyder (2024) Am Fam Physician 109(3): 212-6 [PubMed]
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Definition (MEDLINEPLUS) |
Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of a cluster of pigment cells which cause color in skin. They can be many different colors, from tan to brown, gray to black, or even blue. Moles can be birthmarks. No one knows what causes many types of birthmarks, but some run in families. Most birthmarks are not serious, and some go away on their own. Your baby's doctor will look at the birthmark to see if it needs any treatment or if it should be watched. Pigmented birthmarks aren't usually treated, except for moles. Treatment for vascular birthmarks includes laser surgery. |
Concepts | Congenital Abnormality (T019) |
ICD10 | Q82.5 |
SnomedCT | 51089004, 268354001, 205561006 |
English | Birth mark, unspecified, Birthmark of skin, Birthmark NOS, birthmarks, birthmark disorders, birthmark, Birthmarks, Birth mark, unspecified (disorder), Birthmark, Birthmark (disorder), Birthmark of skin, NOS, Birthmark, NOS |
Spanish | marca de nacimiento, no especificada (trastorno), marca de nacimiento, no especificada, mancha de nacimiento de la piel (trastorno), mancha de nacimiento de la piel, mancha de nacimiento |