When Should Cutis Aplasia be Worked Up?

Patient Presentation
A full-term female infant was born to a 26-year-old married female. The prenatal and natal history were non-contributory. The family history was negative for fetal death, early infant death, genetic problems or syndromes.

The pertinent physical exam revealed a pink infant with a lusty cry. Weight was 3.389 kg (75%), length 48 cm (25%) and head circumference of 34 cm (50%). Her examination was normal except for a 1 cm round lesion on the left parietal area that was not mid-line. It appeared like a healing scar without any underlying defects palpated. There were no differences in the hair texture or scalp pattern in the adjacent areas. There were no other skin lesions than salmon patches above both eyes.

The diagnosis of a healthy term infant with cutis aplasia was made. The family was quite concerned and as it was less expensive and more convenient than subspecialty consultation, a radiologic evaluation using ultrasound of the scalp and head was performed and showed no underlying tissue defects. The patient was followed and at 2 years of age the lesion was present but small and less noticeable to the family. It did not cause any problems for the child.

Aplasia cutis congenita (aka cutis aplasia, CA) is an uncommon dermal defect that is usually noted at birth or soon after birth. A variable amount of dermal tissue is absent. It is usually an isolated defect. The actual causes are unknown but genetics, developmental and destructive forces are logically the cause. Developmental forces do not allow the appropriate formation and closure of the skin (example would be a syndrome) and destructive forces (such as amniotic bands) harm the tissue so that it is disrupted. On physical examination CA may look like a small hypertrophic or atrophic scar. It can also be covered or uncovered (if covered there may be associated fluid or blood), have ulcerations, erosions or blisters of the skin which can involve the deeper tissues including having bony abnormalities in up to 15-30% of patients. Scalp lesions are very common.

Some other associated syndromes include Adams-Oliver syndrome (e.g. limb defects, cardiovascular and central nervous system abnormalities), Bart Syndrome (e.g. gastrointestinal problems including oral ulceration and pylorus atresia, head abnormalities), fetus papyracesus (e.g. associated with demise of fetal twin, skin defects, limb defects), amniotic band sequence, and congenital Volkmann ischemic contractures.

Learning Point
CA has an estimated incidence of 3:10,000 live births. As CA is relatively rare and each person unique, there is not a standard evaluation and treatment recommendations. However there are case series which show some lesions may be more likely to have associated underlying defects. A thorough physical examination may show other lesions and/or congenital defects that warrant additional evaluation and treatment.

In one series patients were more likely to have an underlying defect if they “…include the hair collar sign [longer hair around the lesion], midline vertex location, size greater than 5 cm, vascular stains and nodules. The anatomic site appears to be more important than the type of [CA] (membranous as opposed to nonmembranous) in predicting underlying bony defects, but in cases with neural tube defects, the presence of a membranous lesion was a significant predictor.”

Another state-of-the-art report notes that patients again are more likely to have an underlying defect if it is located on the body, if on the scalp is located at the vertex or midline, is stellate as opposed to round or oval, is non-membranous and is associated with other congenital anomalies.

Treatment again will depend on the underlying problems. Neonatology, dermatology, neurosurgery and plastic surgery may all play a role in the treatment of CA.

Questions for Further Discussion
1. What are common skin lesions in newborns?
2. What would be skin lesions in newborns that would be concerning for possible underlying pathology?
3. What causes hair loss? a review can be found here

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Skin Diseases and Birth Defect.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Colon-Fontanez F, Fallon Friedlander S, Newbury R, Eichenfield LF. Bullous aplasia cutis congenita. J Am Acad Dermatol. 2003;48(5 Suppl):S95-98. doi:10.1067/mjd.2003.150.

Humphrey SR, Hu X, Adamson K, Schaus A, Jensen JN, Drolet B. A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. J Perinatol. 2018;38(2):110-117. doi:10.1038/jp.2017.142.

Patel DP, Castelo-Soccio L, Yan AC. Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement. Pediatr Dermatol. 2018;35(1):e59-e61. doi:10.1111/pde.13340.

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa