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Classical Ehlers-Danlos Syndrome in a Pediatric Patient: A Case Report and Review of Surgical Implications
Chaimae Ben Driss1,2,*, Hamza Bensaghir1,2 and Nawfal Fejjal1,2
1Pediatric Plastic Surgery Unity, Children hospital of Rabat
2Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
Received Date: 22/03/2025; Published Date: 22/04/2025
*Corresponding author: Chaimae Ben Driss, Pediatric Plastic Surgery Unity, Children hospital of Rabat; Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
Abstract
Ehlers-Danlos Syndrome (EDS) is a group of hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The classical type of EDS (cEDS) is caused by mutations in the COL5A1 or COL5A2 genes, which encode type V collagen. This case report highlights the importance of early recognition and specialized surgical management in pediatric patients with cEDS. We present the case of a 5-year-old child with a known diagnosis of cEDS who presented with a lumbar spine wound following minor trauma. The wound was managed in accordance with established guidelines for cEDS, including meticulous suturing techniques and postoperative care. This case underscores the value of a proactive, multidisciplinary approach in optimizing outcomes for patients with cEDS.
Keywords: Ehlers-Danlos Syndrome; Classical type; Pediatric surgery; Connective tissue disorder; COL5A1; COL5A2; Case report
Introduction
Ehlers-Danlos Syndrome (EDS) encompasses a spectrum of inherited connective tissue disorders, with the classical type (cEDS) being one of the most common forms. cEDS is primarily caused by mutations in the COL5A1 or COL5A2 genes, leading to defects in type V collagen synthesis. This results in hallmark features such as skin hyperextensibility, atrophic scarring, and joint hypermobility [1]. Pediatric plastic surgeons may encounter patients with cEDS in various clinical scenarios, including wound management, hernia repairs, and complications related to tissue fragility. Early recognition of cEDS and adherence to specialized surgical protocols are critical to minimizing complications and improving outcomes. This case report illustrates the successful management of a pediatric patient with cEDS, emphasizing the importance of tailored surgical techniques and a multidisciplinary approach.
Case Presentation
A 5-year-old child with a known diagnosis of classical Ehlers-Danlos Syndrome (cEDS), previously confirmed through genetic testing at a European center, presented to the emergency department with a lumbar spine wound following minor trauma (Figure 1). The child’s medical history of cEDS prompted immediate referral to the pediatric plastic surgery department for specialized wound management.
On examination, the child exhibited characteristic features of cEDS, including skin hyperextensibility and joint hypermobility. The lumbar wound was irregular, with thin, atrophic edges indicative of tissue fragility (Figure 2). Given the patient’s known diagnosis, no additional diagnostic tests were required, and the focus shifted to optimizing wound closure and healing.
The wound was meticulously repaired using a two-layered suturing technique with non-absorbable sutures (Prolene) to minimize tension and reduce the risk of dehiscence. Special attention was paid to ensuring deep, layered closure to provide adequate support to the fragile tissue. Postoperative care included prolonged wound support with adhesive strips and close monitoring for signs of complications (Figure 3).
The patient’s recovery was uneventful, with the wound healing well over the following weeks. Regular follow-up visits confirmed good wound evolution (Figure 4), and the patient was referred to a genetic counseling service for ongoing management and family screening.
Figure 1: Image showcasing the lumbar wound.
Figure 2: The wound after proper suturing.
Figure 3: Follow-up of the wound care.
Figure 4: The. wound healed.
Discussion
Clinical Features of Classical EDS
cEDS is characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and tissue fragility [2-5]. These features necessitate a high index of suspicion and specialized management strategies, particularly in pediatric patients who may present with wounds or other surgical complications.
Genetic Basis and Diagnosis
cEDS is primarily caused by mutations in the COL5A1 or COL5A2 genes, which encode type V collagen [6]. While genetic testing confirms the diagnosis, clinical recognition of cEDS is essential for timely and appropriate management. In this case, the patient’s prior diagnosis allowed for immediate implementation of tailored surgical techniques, highlighting the importance of early genetic and clinical evaluation.
Surgical Considerations for Pediatric Surgeons
Pediatric surgeons must be aware of the unique challenges posed by cEDS:
Wound management: Delayed wound healing and abnormal scarring necessitate meticulous surgical techniques, including deep, layered sutures with non-absorbable materials and prolonged wound support [9].
Preventive approach: Early recognition of cEDS allows for proactive management, reducing the risk of complications such as wound dehiscence and recurrent hernias [10].
Multidisciplinary care: Collaboration with geneticists, physical therapists, and other specialists is crucial for comprehensive management and improved patient outcomes [13].
Multidisciplinary Approach
The management of cEDS requires a coordinated effort among various healthcare providers. Early intervention, patient education, and family screening are essential components of care. This case demonstrates the value of a proactive, multidisciplinary approach in achieving favorable outcomes.
Limitations
This case report is limited by its focus on a single patient. However, the successful management of this case underscores the importance of adhering to established guidelines for cEDS and highlights the need for further research to refine surgical techniques and improve outcomes.
Conclusion
This case highlights the importance of early recognition and specialized management of classical Ehlers-Danlos Syndrome in pediatric surgical practice. The child’s known diagnosis of cEDS allowed for immediate implementation of tailored surgical techniques, resulting in successful wound healing and an uneventful recovery. A proactive, multidisciplinary approach is essential for optimizing outcomes in patients with cEDS. Further research is needed to enhance surgical protocols and improve long-term outcomes for these patients.
Contributions: All the authors contributed equally to the conception, acquisition, analysis, interpretation of data, and drafted and approved the manuscript.
Declaration of Conflicting Interests: No conflicts of interest.
Funding: None.
Ethical Approval: No ethical approval is required for de-identified case reports and case series based on our institutional policies.
Consent: Written informed consent was obtained from the patient’s legally authorized representatives.
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