INTRODUCTION

Aplasia cutis congenita is a rare congenital defect characterized by the lack of the epidermis, dermis, and, in some cases, subcutaneous tissue. This condition may be localized or widespread. Initially described by Cordon in 1767 [1], ACC predominantly affects the scalp, yet it may also occur on the face, trunk, and limbs [2–4]. Although the exact incidence is not well documented, ACC is considered an uncommon disorder that is often overlooked and not fully understood.

Clinically, ACC presents in a range of forms, from mild, scar-like lesions to more severe ulcerations, which may be accompanied by systemic abnormalities [5,6]. In 1986, Frieden proposed a classification system for ACC, organizing it into nine categories based on the location of the lesions, associated anomalies, and patterns of inheritance [1]. This classification has provided significant insights into the condition. However, there remain significant knowledge gaps concerning its causes and the most effective treatment strategies. While isolated ACC cases are usually non-threatening, syndromic forms of the disorder, such as those associated with Bart’s syndrome (dominant dystrophic epidermolysis bullosa), present considerable diagnostic and management difficulties. These syndromic forms are often accompanied by additional malformations and increase the risk of severe complications, including infections and systemic issues [7–9].

In some countries, where cultural practices and healthcare limitations may contribute to the challenges in managing ACC, factors such as consanguinity, limited prenatal care, and inadequate access to specialized care further complicate the situation [10]. Moreover, the absence of local epidemiological data hinders the formulation of targeted prevention and management strategies.

This study, conducted at a tertiary dermatology center, aimed to examine the epidemiological, clinical, and evolutionary aspects of ACC. By evaluating sixteen cases over a span of fourteen years, the goal was to enhance understanding of this rare condition and improve management strategies in similar healthcare settings.

MATERIALS AND METHODS

This retrospective, descriptive study was conducted at the dermatology department of our hospital from 2010 to 2024. The hospital is a tertiary care center serving as a regional referral hub for pediatric dermatology. A total of 11,723 consultations were performed during the study period.

The study comprised sixteen pediatric patients diagnosed with congenital cutaneous aplasia (CCA), accounting for approx. 0.14% of all pediatric dermatology consultations. Patients were included if they had a confirmed diagnosis of ACC through clinical examination, with additional diagnostic investigations conducted when needed. The exclusion criteria involved incomplete medical records or a diagnosis other than ACC.

RESULTS

Clinical Characteristics

The clinical presentation varied, with lesions mainly occurring on the limbs (50%) (Fig. 1), flanks, and abdomen (12%) (Fig. 2). Scalp involvement was seen in two cases, one with a large irregular plaque exposing the dura mater (Fig. 3) and the other with a small lesion associated with cranial deformity (Fig. 4).

	Figure 1: Aplasia cutis congenita of the limbs, with some lesions presenting as bullous formations.
	Figure 2: ACC of the abdomen.
	Figure 3: Large, irregular ACC plaque exposing the dura mater.
	Figure 4: Small ACC lesion associated with cranial deformity.

• Lesion size and morphology: lesions varied in size from 1 cm to 15 cm. The majority were large and displayed diverse characteristics, including translucent plaques with visible vascular networks, as well as cicatricial, ulcerated, or fibrinous plaques.
• Blistering and mucosal involvement: blistering was observed in 26% of cases (Fig. 5) often at sites of friction. Mucosal involvement, including blisters and erosions, was noted in some patients, particularly in the oral mucosa.
• Systemic malformations: 30% of patients had associated systemic malformations, including bilateral clubfeet, radial club hands, cleft lip, and craniosynostosis. One patient with vertex aplasia also had a bony defect.

Figure 5: Blistering and mucosal involvement in ACC.

Management and Outcomes

The treatment approach was largely symptomatic, with a combination of conservative and surgical management.

• Conservative treatment (75% of cases) included petrolatum-based dressings, analgesics for pain management, and antibiotics to prevent or treat infections. These interventions were effective for small to moderate lesions without complications.
• Surgical treatment (25% of cases) involved skin grafting or directed wound healing using local flaps for larger lesions or those with severe tissue loss (Fig. 6).
• Healing and follow-up:
• Complete healing (31%): Achieved in patients with minor lesions and no associated malformations.
• Persistent complications (43%): included incomplete healing and chronic infections, requiring long-term follow-up.
• Fatal outcome (19%): two patients, both with Bart’s syndrome, died from septic shock. In both cases, follow-up care was insufficient as their parents, who had previously lost a child to Bart’s syndrome, refused further treatment after the initial discharge. These parents also declined psychological support and left the hospital without medical consent.

Figure 6: Aplasia cutis congenita treated with a surgical graft and guided wound healing.

DISCUSSION

Aplasia cutis congenita (ACCis an uncommon condition characterized by the absence of skin at birth, which may also present alongside other systemic abnormalities. While the precise cause of ACC is not fully understood, several potential factors have been suggested, such as genetic mutations, intrauterine trauma, viral infections, and maternal influences. Recent studies, particularly by Marneros (2024) [11], have highlighted the significant role of genetic mutations in the development of ACC. Specifically, mutations in KCTD1 and KCTD15 disrupt normal skin formation by impacting cranial neural crest cells and keratinocytes. These findings emphasize genetic components in some cases and support the need for genetic counseling. This is especially true in families with a documented history of ACC or related genetic skin conditions.

In our study, we observed a 33% rate of consanguinity, which suggests a potential genetic predisposition in affected families. This highlights the importance of early genetic counseling in populations with a history of ACC or other genetic skin conditions, ensuring better-informed family planning and management decisions.

The study also examined sixteen ACC cases, revealing key insights its clinical features, prevalence, and treatment approaches. The high rate of consanguinity in our cohort supported the notion of a genetic link in ACC. This finding aligned with previous studies highlighting the hereditary nature of certain ACC forms, such as those seen in syndromic conditions such as Bart’s syndrome.

The clinical presentation of ACC in our cohort was diverse, with lesions mostly found on the upper and lower limbs (50%). The relatively low incidence of scalp aplasia (12%) in our study was noteworthy, as scalp aplasia is commonly regarded as a key feature of ACC, especially when accompanied by the characteristic hair collar sign.

In contrast to other studies where scalp aplasia is more frequent, the relatively low incidence in our cohort may have reflected geographic or genetic differences [12,13]. In newborns presenting with scalp aplasia, a thorough clinical examination should be conducted as this condition may be linked to other significant malformations, including cranial defects. Previous studies have recommended neuroimaging (e.g., CT or MRI) for cases of scalp aplasia to evaluate potential underlying dysgraphia defects. Although central nervous system dysraphism is uncommon in patients with isolated head ACC, routine imaging may not be required for all individuals. However, certain clinical signs, may suggest a higher risk of associated defects and warrant further evaluation, such as the hair collar sign. Early detection and imaging remain essential to prevent complications and inform appropriate management [14].

Our study also found that insufficient prenatal care (66% of cases) was a significant issue, which emphasizes the need for improved prenatal monitoring, especially in high-risk pregnancies [15,16]. While previous studies have not definitively established a direct connection between prenatal care and the incidence of ACC, early identification of at-risk pregnancies could potentially reduce the impact of intrauterine factors associated with ACC [17,18].

A key practical implication of our findings is the importance of parental education in the management of ACC. In our cohort, patients whose parents were well-educated on proper wound care, dressing techniques, and follow-up schedules had better outcomes [19]. This supports the idea that parental involvement plays a key role in managing the condition. For instance, in cases of Bart’s syndrome and other syndromic forms, pain management, wound care, and prevention of infections are critical. Our study reinforces the need for early and thorough parental education, which should be incorporated into the management plan for all ACC cases. This is consistent with recommendations from other studies that highlight the significance of parental involvement in wound care and ongoing follow-up [20].

Moreover, multidisciplinary collaboration between healthcare providers and parents is essential for successful ACC management. This includes close monitoring of patients during the neonatal period, as ACC lesions may be prone to infection, especially in syndromic cases. Pain management and infection prevention are critical, as superinfections may have severe consequences, including fatal. This insight into the role of collaborative care is in line with findings from other research that recommends a holistic approach to ACC treatment.

In comparing our study to other literature, several observations are noteworthy. The lower incidence of scalp aplasia in our cohort contrasted with studies that report higher rates of scalp involvement. This discrepancy may have reflected the geographic or genetic differences in patient populations. Similarly, our cohort’s higher rate of consanguinity (33%) compared to other studies (typically lower) suggested that genetic factors may be more prominent in certain populations [12,13]. These findings underline the need for systematic genetic counseling in areas with high rates of consanguinity, especially in families with a known history of ACC.

The high rate of syndromic associations in our cohort (30%) was consistent with existing literature, where syndromic forms like Bart’s syndrome and Adams–Oliver syndrome are observed in ACC patients. As reported in other studies, patients with ACC and underlying syndromes often present with more complex clinical courses, requiring multidisciplinary management. This underscores the importance of early and thorough clinical evaluations, especially in neonates, to detect potential systemic malformations that may complicate treatment.

CONCLUSION

Congenital cutaneous aplasia (CCA) is a rare malformation, often presenting as an isolated anomaly yet sometimes being part of a more complex condition. This study offered valuable insights into its epidemiology, clinical characteristics, and management, aligning with existing literature, while highlighting unique aspects such as the high prevalence of consanguinity and the relatively low incidence of scalp aplasia amongst our patients, which merit further investigation. Given the association of CCA with syndromic conditions, a multidisciplinary approach is essential for the diagnosis and treatment of Bart’s syndrome, incorporating genetic counseling and early intervention to prevent complications.

Even if the diagnosis of CCA is typically straightforward, its management remains complex, requiring collaboration between healthcare providers and families. Managing pain and taking preventive measures against superinfections are critical, as these complications may lead to severe, even fatal consequences.

Research should focus on understanding the genetic and environmental factors contributing to births with congenital cutaneous aplasia and improving management strategies, particularly in syndromic cases, to enhance patient outcomes.

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