Combined Conservative and Surgical Management for Aplasia Cutis Congenita: A Case Report and Review of the Literature

Aplasia cutis congenita is a rare group of disorders, characterized by the localized or widespread absence of skin involving the epidermis, dermis, and subcutaneous tissue such as muscle and bone. Here, a case of extensive aplasia cutis congenita involving the trunk, scalp, and bilateral thighs is reported.   The trunk defect was successfully treated by a combination of conservative and surgical approaches, including allograft application to decrease size followed by split-thickness skin autografts to close the defect. The donor site was completely healed on the 7th postoperative day. This case and a review of the literature focusing on treatment is discussed.

Aplasia cutis congenita is a rare group of disorders, characterized by the localized or widespread absence of skin involving the epidermis, dermis, and subcutaneous tissue such as muscle and bone. Aplasia cutis congenita not only occurs in isolation, but also in association with other abnormalities. The pattern of tissue defect varies in different geographic locations.¹ In 1986, Frieden¹ proposed a classification system for aplasia cutis congenita based on the distribution of the lesions, associated anomalies, and mode of inheritance. This system included 9 different types. The scalp is most commonly affected and is involved in 85% of all cases.^2,3 The majority of scalp defects are on the midline over the skull vertex and may be associated with the periosteum, skull, and dura. Giant defects of the scalp may be fatal because the absence of dura mater increases the chance of some complications, including sagittal sinus hemorrhage, infection, and meningitis. Only 15% of aplasia cutis congenita cases involve nonscalp locations, including limbs and trunk, and are often bilateral and symmetric.⁴

  The management of aplasia cutis congenita remains controversial. Conservative and surgical treatments have been described in the literature with varying results.^5-8 Conservative treatments includes regularly changing dressings, preventing infections, and promoting spontaneous epithelialization. Surgical management options include skin graft, local flaps, and free flaps. Because both conservative and surgical treatments have a high risk of multiple complications there is no agreed method of treatment for aplasia cutis congenita. Here, a case of aplasia cutis congenita involving the trunk, scalp, and bilateral thighs with good outcomes is reported. A review of the literature on management options for treating aplasia cutis congenita is also presented.

A 3-day-old boy was referred to the Department of Burn and Plastic Surgery, Guangzhou Red Cross Hospital, Jinan University (Guangzhou, China) because of a skin defect involving the trunk, bilateral thighs, and scalp. The patient weighed 2900 g and was a product of a 37-week gestation. He was delivered normally at full-term with no history of trauma during childbirth. There was no history of medication or infections by the mother, and no exposure to radioactive, toxic, or harmful substances during pregnancy. There was no family history of a similar condition.

  Physical examination revealed 2 irregular defects on the bilateral lateral aspects of the trunk. The cutaneous defect on the left side was 16 cm × 7 cm and 13 cm × 10 cm on the right. The lesions were well demarcated and subcutaneous tissue could be seen clearly, which covered a yellow layer of soft membrane (Figure 1). Additionally, there were 3 smaller cutaneous irregular defects on the vertex of the scalp (2 cm × 1 cm) and bilateral thighs (3 cm × 1 cm and 3 cm × 1 cm, respectively). The surface and wound bed on the scalp and bilateral thighs were similar to that on the trunk. The patient had no bulla. Other examinations, such as echocardiogram, B-mode ultrasonography, and x-ray of the chest and extremities, were unremarkable.

  Initially, the patient received conservative treatment after a bacterial culture of the wound secretion upon admission revealed Enterococcus faecium. The dressing was changed with silver sulfadiazine every day and systemic antibiotics were applied to prevent invasive bacterial infection. After 10 days of antibiotics and wound care management, the scalp and bilateral thigh wounds were healed, while the trunk defects had only contracted minimally. The germiculture of the wound secretion was repeated and revealed no further bacterial growth. To prepare the wound bed for autologous skin grafting, the defects were covered with fresh allografts that were changed every third day. After the first 3 days of using allografts, the trunk defects were significantly smaller (15 cm × 4 cm and 8 cm × 7 cm), but after the second 3-day period of allograft application, the wounds reduced only slightly (14 cm × 3 cm and 6 cm × 5 cm). Furthermore, new epithelia appearing at the wound edges were thin, delicate, and easily abraded. Granulation tissue was seen at the base of the wound (Figure 2). It is already difficult for a wound to heal by epithelialization from the edge tissue if the full-thickness skin defect area is greater than 3 cm × 3 cm; the authors think it would have been impossible for this wound to heal by epithelialization from the edge tissue. On day 16 after admission, surgical treatment was undertaken. A split-thickness skin graft (thickness = 0.10 mm) was taken from the left thigh of the patient, and transplanted to the wounds, with peripheral silk suture fixation to prevent shifting. The transplanted autograft survived and had taken 100% on postoperative day 3 (Figure 3). The autologous skin graft area and the donor area healed satisfactorily. The patient was discharged on postoperative day 7 (Figure 4).

The PubMed database was searched for all titles containing the key word “aplasia cutis congenita” or “aplasia cutis congenital,” resulting in 301 relevant articles for all available years to the present. Reading the abstracts and determining which of the studies focused on treatment further refined this list. In total, 27 articles were identified; the details of these studies are listed in Table 1.

  Incidence and etiology. Aplasia cutis congenita was first reported by Cordon⁹ in 1767, and had a prevalence rate of 1 out of 10,000 live births reported by Bajpai et al.¹⁰ So far there is no unifying theory for the pathogenesis, but some reports suggest aetiological factors include disruption of vascular mechanisms,¹¹ uterine compression,^4,12 amniotic adhesions,¹³ infection,¹⁴ and drugs and mutagenic substances (such as methimazole or cocaine).¹ (Additionally, genetic factors are evident in some cases although the inheritance patterns appear to be complex. Both autosomal dominant and recessive inheritances have been described. The neonate in this study had no family history of aplasia cutis congenita.

  Clinical manifestations and diagnosis. Diagnosis primarily depends on physical examination. The typical characteristic of the disease is a well-demarcated skin defect at birth. The defect may occur anywhere on the body, but it is found most commonly on the midline over the skull vertex. Histological examination of tissue from the congenital defect revealed partial or full-thickness skin defect, or granulomatous material with non-specific features. The parents of the patient in this study declined wound biopsy. Aplasia cutis congenita has always been associated with other congenital malformations such as epidermolysis bullosa, ectrosyndactylia, and pyloric atresia.¹⁵ Clinical characteristics are complex—once the neonate has a skin defect, exhaustive physical examination and related image examinations should be performed. The patient in this study underwent echocardiogram, B-mode ultrasonography, and x-rays of the chest and extremities with no other abnormality identified.

  Diagnosis and treatment. The differential diagnosis for this disease includes trauma caused by forceps, epidermolysis bullosa, focal dermal hypoplasia syndrome, and epidermal nevi. Epidermolysis bullosa is a heterogeneous group of hereditary disorders characterized by extreme fragility of the skin and mucous membranes, which gives rise to the formation of blisters and ulcers following minor trauma.¹⁶ It usually occurs in parts of the skin which are easy pressed and rubbed, such as the upper limbs and back of the trunk. Focal dermal hypoplasia is a rare X-linked dominant genodermatosis characterized by developmental defects of the skin, resulting in widespread linear lesions of dermal hypoplasia with adipose tissue in the dermis.¹⁷ The neonate in this study was delivered spontaneously without using forceps. Furthermore, no blisters were seen on the neonate and his relatives had no family history of the disease.

The treatment of aplasia cutis congenita with both conservative and surgical management is often debated, as reported in the literature. Both options have high risks of complication. Conservative treatment carries a potential risk of infection, sagittal sinus hemorrhage, and delayed wound healing. Surgical treatment carries a potential risk for infection, skin graft and flap necrosis, and scarring of donor sites.¹⁸ A review of the literature on aplasia cutis congenita found that most studies advocated a conservative approach for the successful management of small-sized skin lesions.^19-21 These defects heal well through epithelialization from the edges when lesions are treated with regular antibacterial dressing and current standard of care. Healing may range from weeks to months. A few authors suggested conservative treatment as a first-line management in lesions measuring less than 2 cm.^22,23 The treatment of large defects still represents a debatable issue, especially when present on the scalp and bony defects. For large defects involving the trunk and limbs, conservative management is sometimes recommended.^24,25 The researchers thought the large lesions of trunk and limb still could epithelialize spontaneously; however, in cases for which a conservative approach was contraindicated, such as the large defects and deep wounds, skin graft was necessary. For the large defects involving significant scalp and bony prominence, operative intervention was well recognized in the literature as the preferred approach to treatment as it can reduce the risk of hemorrhage, infection, and mortality, and help the wound heal more quickly.^26-28 Early surgical measures could provide protection for underlying brain and vasculature and avoid infection and potential hemorrhage. Although most of these cases could be managed by surgery with satisfying results, conservative management was still described in a few studies.^29,30 These researchers thought a conservative approach might ensure closure of even the largest skin and bone defects. However, careful patient selection and monitoring of the patients’ conditions were necessary for these cases.

  It is the authors’ clinical experience that conservative treatment is more common in China. Patients with aplasia cutis congenita are mostly admitted to the dermatology and neonatology department; because morbidity of aplasia cutis congenita is low, and little is known about aplasia cutis congenita for the doctors in dermatology or neonatology, these physicians usually choose the conservative treatment as the first-line management. The sizes of the defects on the trunk in this case were very large and the wounds were infected at admission. To minimize the defect and treat the infection, conservative management was utilized at the early stage. After the wound infection was controlled, allografts were used to close the defects. Even if an allograft does not survive, it can establish an epidermal cytokine network, provide a stimulus to healing, and produce a good wound bed for an autologous skin graft. Furthermore, it can reduce the area of the donor site, which minimizes the risks of operation and donor site complication. The wounds were smaller at the time of the operative intervention compared to their size at admission, but were still large. In the neonate patient population, a wound is unlikely to heal by itself if the defect area is greater than 3 cm × 3 cm.³¹ Clinical observation showed that granulation tissue was visible at the wound base and new epithelia were fragile and easily abraded. Surgical intervention was undertaken after considering the potential risks of the thickness of the neonatal skin taking and healing, and the potential challenges of handling a thin graft. A skin graft that is too thick or thin may lead to the failure of the surgery. The authors of the current study selected a strip of split-thickness skin measuring 0.1 mm to prevent poor healing of the donor site. It was suggested upon discharge that the neonate should be brought back to hospital after 1 month for a follow-up visit. The family did not return to the hospital, and the authors followed up by telephone. The parents reported the baby was healthy, and there was no hypertrophic scar on the trunk or donor site.

  The authors’ experience demonstrates it is more suitable to combine both conservative and surgical management for large non-scalp defects in a neonate. Allografts not only can prepare the wound bed but also facilitate epithelialization, leaving options for surgery open if needed. Split-thickness skin grafting is an effective and simple method to treat larger, non-scalp defects. Since neonates’ skin is very thin, the thickness of the graft being taken should be controlled in an optimum range that doesn’t affect the healing and scarring of the donor site. In addition, to ensure the survivability of the skin graft, the surgeon must seriously consider the most appropriate skin-grafting method for each case.

The authors thank Kent Choi, MD, Director, Division of Acute Care Surgery, and Surgical Director, Surgical Intensive Care Unit, at the University of Iowa Hospitals and Clinics, Iowa City, IA, for his helpful advice.

Affiliations: The authors are from the Department of Burn and Plastic Surgery, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China.

Address correspondence to:
Zhi Zhang, MD
zhangzhicc48@163.com

Disclosure: The authors disclose no financial or other conflicts of interest.