Diffuse Vascular Lesion in an Infant With No Known Congenital Anomalies

A female infant is born to a gravida 2 para 1 mother at 37 weeks and 1 day completed gestation via low transverse cesarean section after failed induction of labor for preeclampsia with severe features. The prenatal course was complicated by maternal hypertension, preexisting type 1 diabetes mellitus on an insulin pump, and group B streptococcus (GBS) positive status at delivery. Prenatal ultrasonogram results are unremarkable.The infant is vigorous at delivery, but she develops diffuse violaceous lesions of the extremities and trunk with petechiae along the lumbosacral spine during routine neonatal resuscitation. Her birth weight is 3410 g (84th percentile), length is 52 cm (93rd percentile), and head circumference is 31.5 cm (17th percentile). Heart rate is 150, respiratory rate is 38, and blood pressure is 64/46 (mean arterial pressure of 54). She is transferred to the neonatal intensive care unit (NICU) for further evaluation and workup of her cutaneous findings.On arrival to the NICU, her skin examination is notable for a nevus flammeus over the right eye and face (Figure 1A). She has a deeply violaceous, reticulated lesion extending across her arms, legs, and trunk that is more extensive on the left compared with the right, with flat, confluent erythema on the upper thighs and trunk on the right side of the body that respects the midline of her anterior trunk (Figure 1B). Both rashes are blanchable and do not change with temperature variation or crying. Outside of the cutaneous findings, her physical examination is unremarkable. She is well appearing and active without jaundice or cyanosis. Her head is normocephalic with open and flat fontanelles with a small caput secundum. Her eyes are normal in size and position and a present red reflex bilaterally. Her ears are equal in position and size. Her nares are patent. Her chest is symmetric with good air entry bilaterally. No murmurs are appreciated on examination. Her abdomen has normal bowel sounds with no masses or organomegaly. She has no sacral pit or dimple. She has no focal neurologic deficits with symmetrical tone appropriate for gestational age. She has normal female genitalia with a patent and normally positioned anus.Pediatric dermatology and pediatric hematology/oncology are consulted given the diffuse violaceous, vascular nature of lesion, and pediatric ophthalmology due to the proximity of the nevus flammeus to the eye. The consultants' workups are notable for choroidal hemangioma on the bilateral retina.Given the presence of the diffuse rash from birth, a broad differential is considered. The differential diagnosis initially included the following: cutaneous manifestations secondary to congenital infections (such as herpes simplex virus, cytomegalovirus, toxoplasmosis, syphilis, or rubella), sepsis, cutis marmorata telangiectatica congenita (CMTC), Sturge-Weber syndrome, Adams-Oliver syndrome, macrocephaly-capillary malformation syndrome, purpura fulminans, and leukemia cutis, Harlequin color change.CMTC is a rare, congenital cutaneous vascular anomaly that presents as a violaceous reticulated marbling of the skin typically observed immediately after birth that dissipates as time progresses.1–3 CMTC can present as a localized or generalized lesion with the lower extremities most commonly affected.4 The cause of CMTC remains unknown, but theories related to its etiology include postzygotic genetic mosaicism as it is seen both sporadically and with familial inheritance.3,5 Given its underlying vascular nature, potential complications include cutaneous atrophy and ulceration.CMTC is a clinical diagnosis based on dermatologic findings. Although there are no validated diagnostic criteria, Kienast et al proposed a set of diagnostic criteria for CMTC in 2009, of which 3 major criteria and 2 minor criteria must be fulfilled. Major criteria are as follows: congenital reticulate (marmorated) erythema, absence of venectasia (enlarged veins), and unresponsiveness to local warming. Minor criteria are as follows: fading of erythema within 2 years, telangectasia within the CMTC-affected area, port-wine stain outside the CMTC-affected area, ulceration within the CMTC-affected area, and cutaneous atrophy within the CMTC-affected area.3,5,6CMTC is largely a benign skin finding with associated anomalies estimated to be present in 42.5% of patients.5 The most common association is body asymmetry (37.7%) most commonly presenting as a leg length discrepancy, although hemihypertrophy is a less common manifestation. Neurological deficits (10.1%) and ophthalmologic anomalies (9.9%), most commonly congenital glaucoma, are also associated.1,5 The cutaneous manifestations of CMTC resolve over time with the violaceous regions fading spontaneously, although cases of treatment with pulsed dye laser due to pain from the lesions or cosmetic concerns have been recorded.4,5The patient's cutaneous findings prompted an evaluation for coagulopathy (complete blood cell count [CBC], prothrombin time/partial thromboplastin time, international normalized ratio) and congenital infection (CBC, blood culture, urine cytomegalovirus [CMV]) that ultimately returned negative. The skin lesions seen in extramedullary hematopoiesis secondary to congenital infections such as CMV differ from that of our patient by their characteristic blue, violet dome-shaped papules or nodules. Although the infant did not exhibit syndromic features, genetic disorders were initially considered in the differential diagnosis. Since some capillary malformations have associations with genetic syndromes, several imaging studies were obtained while the patient was in the NICU. Echocardiogram was obtained due to the association of Adams-Oliver syndrome with cardiac malformations. Brain/head imaging was obtained due to associations present with Sturge-Weber syndrome and macrocephaly-capillary malformation syndrome. An abdominal ultrasonogram was obtained to ensure no hemangiomas present in the liver or additional visceral lymphatic or vascular malformations. Head and liver ultrasonogram results were unremarkable. A computed tomography scan of the head was obtained and showed no craniosynostosis. Magnetic resonance imaging of the brain and orbits was notable for foci of white matter diffusion restriction favoring small infarcts consistent with sequela of delivery. The echocardiogram was unremarkable.The patient remained hemodynamically stable throughout her hospitalization and was discharged from the NICU 4 days after birth. Outpatient appointments with dermatology, pediatric ophthalmology, and pediatric neurology followed discharge. At the two-month well-child check, patient was meeting all developmental milestones. At 3 months of age, the patient was seen by pediatric dermatology who noted progressive hemihypertrophy of the right side. An abdominal ultrasonogram was ordered to rule out a Wilms tumor, although hemihypertrophy is most likely secondary to known vascular anomaly. Normal fundi bilaterally was reported after a pediatric ophthalmology outpatient appointment. The patient was awaiting pediatric neurology outpatient evaluation.Cutis marmorata telangiectatica congenita (CMTC) is a congenital vascular malformation of capillary and venous-sized blood vessels. CMTC has a generally good prognosis, and the cutaneous lesions will often fade by 2 years of life.6Given the lack of widely accepted diagnostic criteria, consideration of a broad differential is warranted, and a more expansive workup should be considered on a case-by-case basis, often with the input from multiple subspecialties.Providers should be aware of commonly associated anomalies such as glaucoma and leg length asymmetry at routine and nonroutine visits.3American Board of Pediatrics Neonatal-Perinatal Content SpecificationRecognize cutaneous vascular anomalies.Recognize congenital and acquired disorders of the eye.