Visual Diagnosis: A Baby with a Scalp Lesion, Rash, and Left-Foot Deformity

Diego A. Lara; Robert W. Loar; Hugh D. Allen

doi:10.1542/pir.2016-0078

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Diego A. Lara, MD, MPH*
Robert W. Loar, MD^†
Hugh D. Allen, MD^†

^*Pediatric Cardiology, Department of Pediatrics, Ochsner Health Center for Children, New Orleans, LA
^†Pediatric Cardiology, Department of Pediatrics, Texas Children’s Hospital/Baylor College of Medicine, Houston, TX

AUTHOR DISCLOSURE
Drs Lara, Loar, and Allen have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

Presentation

A female infant is delivered at 38 weeks' gestation to a healthy mother who has one other child, a healthy 3-year-old daughter from a previous relationship. The neonate’s parents are nonconsanguineous. Prenatal ultrasonography demonstrates pleural effusions, echogenic bowel, and isolated mega cisterna magna. Therefore, chromosomal microarray and karyotyping are performed via prenatal amniocentesis, and both results are normal. The physical examination at birth is notable for prominent scalp veins over the left parietal region (Fig 1) and cutis aplasia over the right parietal region (Fig 2). Her left foot is abnormal, with vestigial second to fifth digits and syndactyly of the third and fourth digits (Fig 3). General skin examination is remarkable for marked cutis marmorata (Fig 4). The pulmonic closure component of S2 is loud and crisp. Based on these physical examination findings, a specific diagnosis is suspected.

Figure 1.

Prominent vein on the left parietal region of the scalp.

Figure 2.

Partially healed area of aplasia cutis congenita on the right parietal region of the scalp.

Figure 3.

Terminal transverse limb defects. A. Severely hypoplastic second to fifth toes on the left foot. No bones are palpable in the digits. B. Syndactyly of the third and fourth toes.

Figure 4.

Cutis marmorata present on both legs.

A postnatal echocardiogram is interpreted as normal. Her nursery course is uncomplicated, and she is discharged from the hospital at 1 week of …