Reverse oblique proximal femoral fracture in dystrophic epidermolysis bullosa: challenges and recommendations

Abstract

A 35-year-old woman attended the emergency department after sustaining a reverse oblique proximal femur fracture, which was amenable to intramedullary nailing. Her presentation was complicated by a background of severe generalised recessive dystrophic epidermolysis bullosa, with extensive blistering of most of her skin, including the area over the standard surgical incision sites. For the successful management of this case, extensive input from the multidisciplinary team was required, with the team facing several challenges. The whole approach to nursing and surgical management (anaesthesia, positioning, fracture reduction and wound care) had to be modified, taking great care to protect the skin at any cost, therefore reducing the risk of a surgical site infection which would be catastrophic. The management of this patient can set a framework that can be followed in similar cases, aiming for a favourable outcome of such challenging, rare conditions.

Background

For a successful management of any fracture (ie, fracture union and regaining function), anatomical reduction and adequate stability should be achieved.¹ However, conditions affecting skin integrity can have detrimental effects, leading to surgical site infections, fracture non-union, metalwork failure, generalised sepsis and even death.^2–4

Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterised by cutaneous and mucosal fragility that can result in severe blistering and superficial ulcerations, which in turn can lead to significant scarring and subsequent contractures.⁵ Severe generalised recessive DEB usually presents in the neonatal period, while involvement of the oral cavity and oesophagus can lead to dysphagia, malnutrition and subsequent vitamin and mineral deficiencies.⁶

Given the rarity of the disease, significant management challenges and potentially catastrophic complications in patients presenting with traumatic injuries, we present a case report requiring extensive surgical and medical collaboration, with considerations and recommendations that can be applied in similar cases.

Case presentation

A 35-year-old female patient with a known history of severe generalised recessive DEB presented to the emergency department (ED) following a fall in her bathroom, sustaining a reverse oblique left proximal femoral fracture. Due to the severity of her disease, the patient was already under the care of the dermatology team, having percutaneous endoscopic gastrostomy (PEG) feeding to support nutrition due to advanced blistering/ulceration and scarring/stricturing of the oesophagus, as well as routine transfusions for symptomatic anaemia secondary to the disease. Otherwise, no other medical problems were reported, while preadmission medications included iron and zinc supplementation, along with topical application of Synalar C Cream (Reig Jofre UK) to active blisters. The patient also reported no previous fractures and no other major surgical interventions before this incident.

Physical examination revealed extensive blistering covering all four limbs (blistering also involving the potential incision sites), trunk and facial region, with the classic appearance of ‘mitten’ hand and feet deformities, with absence of nails. Examination of the left lower limb revealed shortening and external rotation, with pain mainly over the proximal thigh and with no changes to the neurovascular function compared with preinjury levels.

Investigations

Following presentation to the ED and due to history of a fall, the patient had routine anteroposterior and lateral radiographs of the pelvis and left femur, which demonstrated a reverse oblique fracture of the left proximal femur (figure 1).

Figure 1.

Preoperative radiographs demonstrating a reverse oblique proximal femoral fracture: (A) anteroposterior radiograph and (B) lateral radiograph.

Regarding haematological investigation, routine full blood count showed anaemia (haemoglobin 63 g/L (reference range 115–160 g/L), mean cell volume 75 fL (reference 78–100 fL), hypochromic cells 30%, mean corpuscular haemoglobin 22.0 pg (reference 37–32 pg)), while coagulation screening was within normal range. Urea and electrolytes showed a slightly elevated urea (9.7 mmol/L; reference 2.5–7.8 mmol/L) and creatine (105 μmol/L; reference 49–90 μmol/L) levels, which were later corrected with appropriate hydration. Additionally, bone profile showed a normal adjusted calcium (2.40 mmol/L; reference 2.20–2.60 mmol/L), high phosphate (2.08 mmol/L; reference 0.80–1.50 mmol/L) and alkaline phosphatase (133 IU/L; reference 30–130 IU/L) levels, while albumin was significantly low (12 g/L; reference 35–50 g/L).

Differential diagnosis

From history, clinical examination, and haematological, biochemical and radiological investigations, no evidence of any pathological process was found (ie, fracture secondary to bone malignancy or medication-related ‘atypical’ fracture). Therefore, this was considered as a ‘typical’ fracture.

Treatment

On presentation to the ED, the patient was assessed and managed according to the standardised neck of femur fracture protocol set up in our institution, in line with national guidelines. Regarding pain management, the patient was treated with a combination of analgesics including opioids, as well as a fascia iliaca block.

Following admission to the ward, the patient was transferred on an active alternating pressure mattress (Nimbus 3, ArjoHuntleigh, Luton Bedfordshire, UK) to reduce the risk of further skin damage and pressure ulcers. Due to the low haemoglobin level, the patient was also transfused 2 units of red blood cells (RBC) preoperatively.

As the patient had recent, weeping blisters on the left lower limb, microbiology advice was sought. According to this, the patient would have a dose of intravenous teicoplanin 400 mg and gentamicin 80 mg 1 hour before the procedure and would continue postoperatively with a 3-hour course of intravenous co-amoxiclav 1.2 g three times a day. Other members of the disciplinary team included dermatology, which advised to continue with current plan and to protect the skin and avoid any shearing forces at all cost, and dietitians, which ensured adequate nutritional support during hospital stay.

The patient went on to have an operation within 24 hours from admission. Due to severe blistering around the potential incision sites for the distal locking of a long cephalomedullary nail, the patient received a short cephalomedullary nail (Affixus hip fracture short nail; Zimmer Biomet, Warsaw, Indiana, USA). It was also decided to have a second senior trauma surgeon attending surgery to ensure adequate support for this challenging case (two-consultant procedure).

Anaesthetic challenges

For intraoperative monitoring, the adhesive pads from the ECG leads were removed and secured with dressings wrapped around the patient, while cotton wool was used for padding under the pressure cuff. The patient then received a spinal anaesthetic, as a general anaesthetic was very challenging due to reduced mouth opening, oesophageal blisters and strictures, and reduced neck movement. To reduce the level of postoperative pain and opioid use, a femoral nerve block was also performed.

Surgical challenges

Positioning

The surgical table was covered with ‘egg crate’ pads (Devon foot and heel protectors and Devon utility pads; H&R Healthcare) and the patient transfer was without the use of Patslide (figure 2A). The patient was then positioned supine on the traction table (no traction applied, foot covered with Easifix contour bandages and then held into the foot holder with no tension), with a post in the perineal area (the post was covered with wool and Mepitel One dressings). The contralateral leg was similarly covered with Easifix contour bandages and held into lithotomy position (figure 2B).

Figure 2.

The patient’s positioning. (A) The surgical table covered with ‘egg crate’ pads (Devon foot and heel protectors and Devon utility pads; H&R Healthcare). (B) Surgical set-up: supine position on the traction table; no traction applied, foot covered with Easifix contour bandages and then held into the foot holder with no tension; post in the perineal area (the post was covered with wool and Mepitel One dressings); contralateral leg covered with Easifix contour bandages and held into lithotomy position. (C) Non-adhesive drapes were applied and loosely held with towel holders. The image intensifier was covered with sterile transparent drapes and positioned on the contralateral side.

Following preparation of the skin with sprayed aqueous povidone iodine solution (Betadine) taking care not to irritate the skin, large non-adherent, soft silicone wound contact layer dressings (Mepitel One, 24 cm × 27.5 cm) were applied to all skin areas except from the sites of the incisions. Skin was reprepped to ensure no contamination. Non-adhesive drapes were then applied and loosely held with towel holders. The image intensifier was covered with sterile transparent drapes and positioned in the contralateral side (figure 2C).

As adequate reduction could not be achieved with closed means (unable to apply traction/rotation to the leg as this would cause tension and injury to the skin), reduction was achieved using two curved Trethowan bone levers (one placed anteriorly pushing the femoral neck posteriorly and the other placed posteriorly pushing the femoral shaft anteriorly) through stab incisions to the skin. Reduction was then manually held by the assistant, while the surgeon continued with the operation as per standard procedure (figure 3).

Figure 3.

Intraoperative radiographs. (A) Lateral view showing the posterior sag of the femoral shaft. (B) Use of two curved Trethowan bone levers to reduce fracture (one placed anteriorly pushing the femoral neck posteriorly and the other placed posteriorly pushing the femoral shaft anteriorly). (C) Final anteroposterior radiograph of the left hip. (D) Final lateral radiograph of the left hip.

Regarding the incisions required, these were a 3 cm longitudinal incision proximal to the tip of the greater trochanter (entry point) and three stab incisions for distal locking and application of bone levers. For closure, Vicryl 1 and Vicryl 2–0 were used for deep layers, while interrupted Ethilon 3–0 was used for skin closure, avoiding any tension. As adhesive dressings could not be applied on the surgical wounds, OpSite transparent film dressing spray was applied (figure 4), covered with Mepitel One dressings, surgical pads and Easifix contour bandages.

Figure 4.

Intraoperative images of the surgical wounds and application of OpSite transparent film dressing.

Recovery

Postoperatively the patient was advised to partially weight-bear with the aid of a gutter frame for 6 weeks, under close physiotherapy supervision. On postoperative day 2, some oozing was noted from the wound. Given the high-risk wound swabs were sent for cultures and sensitivities, but no growth was reported after 5 days of incubation. Additionally, due to prolonged opioid use, the patient suffered from constipation, which led to a single episode of rectal bleeding which settled without any further intervention. A further 2 units of RBC were transfused on day 7 to correct postoperative anaemia. The patient’s skin and swallowing did also flare during the hospital admission. The patient continued to receive daily input from the physiotherapy team and was discharged back to her usual place of residence on day 12. However, during the patient’s hospital stay, she lost 5 kg in weight, which she gradually regained within the following 6 weeks by altering her PEG feeding under the advice of the dietitians.

Outcome and follow-up

At 6-week follow-up by the orthopaedic team, the wounds had healed with no signs of infection, with no pain reported at the fracture site and with the patient progressing to full weight-bearing. At 6-month follow-up, there were still no signs of infection around the incision sites, while fracture healing was evident both clinically and radiologically (figure 5). Regarding dermatology follow-up at 12 weeks postoperatively, it was reported that the skin flare-up was now settling, as was the patient’s swallowing.

Figure 5.

Radiographs at 6-month follow-up: (A) anteroposterior radiograph and (B) lateral radiograph.

Discussion

Epidermolysis bullosa refers to a group of disorders leading to blister formation on a cutaneous surface following minimal trauma.⁷ DEB is the second most common subtype of the epidermolysis bullosa disease category, presenting either in a dominant or a recessive manner, while recessive DEB can range from mild to severe form.⁸ In a large epidemiological study in the USA by Fine,⁸ the prevalence of dominant DEB was reported as high as 1.49 per 1 million population and that of recessive DEB as 1.35 per 1 million population (another 0.42 per 1 million had an unknown mode of inheritance). Calculating the incidence of the disease, the same group reported this to be 2.12 per 1 million of live births for dominant DEB and 3.05 per 1 million live births for recessive DEB (another 1.48 per 1 million live births had an unknown mode of inheritance).⁸

The severest forms of DEB are caused by biallelic pathogenic variants in COL7A1 (3p21.31) gene, leading to reduction or disruption of collagen VII production.⁹ The skin involvement locates deep to the basement membrane in the upper dermis (at the sublamina densa), secondary to the deficiency of anchoring fibrils which anchor the basement membrane to the underlying dermis.⁹ Healing on the other hand is associated with atrophic, or commonly with hypertrophic, scar formation, which can lead to the characteristic but disabling hand and foot deformities (‘mitten’ deformities).¹⁰ Most importantly, DEB can predispose to aggressive squamous cell carcinoma (lifetime risk greater than 90%), even though the exact mechanism leading to this is still unclear.¹¹ Apart from the skin, DEB can also lead to multisystemic manifestations (table 1).

Table 1.

Non-dermatological manifestations of dystrophic epidermolysis bullosa

Body system	Manifestation
Gastrointestinal11 18	Microstomia, ankyloglossia. Oesophageal scarring and strictures that can lead to severe dysphagia. Gastro-oesophageal reflux. Anal erosions, constipation. Malnutrition due to limited intake and poor absorption of nutrients; this can lead to growth problems in childhood. Vitamin and mineral deficiencies. Chronic iron deficiency anaemia/anaemia of chronic disease with bone marrow suppression.
Ocular19	Corneal abrasions/erosions.
Cardiac20	Dilated cardiomyopathy.
Urological21	Urethral erosions, urethral strictures or bladder dysfunction. Can manifest with glomerulonephritis/acute renal failure.
Orthopaedic12 13 22	Contractures can develop in extremities. Appearance of ‘mitten’ hand and feet deformities, with absence of nails. Bone mineral density can be affected due to poor absorption of calcium, leading to osteoporotic fractures.
Gynaecological23	Delayed puberty/menstruation.

The management of DEB is generally symptomatic. New blisters can be protected with non-adherent dressings, covered with additional padding and bandages. Malnutrition can be managed with nutritional supplements (vitamins and minerals), but in cases of significantly reduced oral intake, feeding gastrostomy may be indicated.⁶ Loss of function from digital contractures and pseudosyndactyly on the other hand can be surgically managed with split-thickness or full-thickness skin grafts, while the incidence of reoperation remains high.^{12 13}

With regard to the risk of fractures in patients suffering from DEB, it was only recently that an association was acknowledged.¹⁴ More specifically, malnutrition along with poor absorption of calcium and reduced vitamin D production can lead to reduced bone mineral density and therefore an increased risk of osteoporosis.¹⁵ Other risk factors for osteoporosis in these patients include reduced mobility, delayed puberty and low body mass index.¹⁵ Bruckner et al¹⁶ also reported that skin blistering, low serum albumin, low haemoglobin and increased inflammatory activity correlate with an increased risk of low bone mass. Moreover, several circulating proinflammatory cytokines are known to increase osteoclastic activity, further reducing bone mass.¹⁶ Collagen VII on the other hand is not normally expressed in bone, so a direct association of DEB and low bone mass is unlikely.¹⁴ Finally, the resulting contractures to the upper and lower limbs can increase the risk of falls, therefore increasing the risk of fractures.^{12 13 17}

Reviewing the literature, there is a paucity of evidence investigating surgical planning, positioning and management of patients sustaining fractures. In the herein report we discuss the presentation of a patient suffering a proximal femoral fracture following a simple fall and outline all the challenges we encountered, along with suggestions on how to avoid further injury and reduce the risk of postoperative complications. These challenges and considerations are outlined in table 2 in more detail, which could be used as a guide in similar presentations.

Table 2.

Challenges and recommendations of surgical patients with a background of dystrophic epidermolysis bullosa

	Challenges	Recommendations
Preoperatively	Anaemia. Electrolyte imbalances. Nutrition/hypoalbuminaemia. Risk of pressure ulcers. Blisters over the surgical site. Thorough preoperative assessment; pain management*.	Transfusion (haemoglobin >100 g/L). Correct on admission. Early referral to dietitians. Use of active alternating pressure mattress. Extended antibiotic prophylaxis. Anaesthetic input.
Intraoperatively	Anaesthesia: Type of anaesthetic. ECG pads, intravenous access/catheters. Temperature. Sphygmomanometer cuff. Pain management. Surgical: Surgical table/pressure points. Areas of skin contact. Skin preparation. Tourniquet. Haemostasis. Skin closure. Wound dressing.	Anaesthesia: Spinal where possible†. Secure with non-adhesive dressings. Avoid invasive temperature monitoring. Soft padding to protect skin, or invasive pressure monitoring. Blocks can be effective; avoid use of local anaesthetic skin infiltration. Surgical: Cover with additional padding. Cover with soft silicone wound contact layer dressings. Aqueous povidone iodine solution spray. Avoid where possible. Bipolar diathermy. Monofilament, knots outside skin. Transparent film dressing spray.
Postoperatively	Pain management, smooth emergence from anaesthesia. Wound care. Early mobilisation. Surgical site infection.	Anaesthetic input. Daily care, input by tissue viability/dermatology teams as appropriate. Physiotherapy input. Microbiology input.

*Non-steroidal anti-inflammatories should be used with caution in cases of gastro-oesophageal reflux; opioids should be used with caution as they can exacerbate itching and cause constipation, but otherwise not contraindicated.²⁴

†Intubation can be challenging due to extensive skin/mucosal scarring, reduced mouth opening, reduced neck movement and risk of further damage to the oropharynx.

We also want to emphasise the importance of involvement of a multidisciplinary team including physicians, dermatologists, microbiologists, anaesthetic services, orthopaedic surgeons and rehabilitation team and educating both the patient and their family. Successful collaboration and communication between different teams is essential to achieve the best possible outcome in these challenging and complex cases.

Patient’s perspective.

Upon falling in the bathroom, I knew I had suffered a serious injury. The pain was instantaneous, and I was unable to get back on to my own two feet. All I can recall upon arrival to hospital was the excruciating pain I was in, once transferred to resus I was administered some morphine which helped settle me down. I received the news of breaking my hip and the need of an operation. Having had the issues with my skin for all my life I knew straight away that this wouldn’t be straight forward. Unfortunately, my left leg had flared up quite badly with my DEB and I knew straight away that this operation would not be easy. Given that my skin is prone to developing infections, the thought of someone making a large incision made me very anxious. I was reassured by the Orthopaedic team and promised they would liaise with my dermatology team, as well as the microbiology team to minimise the chance of me developing a post-operative infection. I was informed of the plan with regards to antibiotics and I underwent my operation. I remember the huge sense of relief when my surgeon informed me that the operation had gone well, and the next stage was to try to get me moving as soon as possible. I must take this opportunity to thank the nursing staff and the physiotherapists for their understanding of my condition. The nurses ensured my dressings were changed on a daily basis as per the dermatology team’s advice and they always ensured I was given pain relief prior to doing so. The physiotherapy team were extremely patient and understanding. I struggled at first to mobilise, partly due to pain in my leg and the rest of my body due to the blisteration, and partly due to fear of falling over again. This allowed me to progress day after day from sitting out of bed to mobilising with my frame. Currently I feel that my hip is practically back to normal. I am mobilising independently, and my scar has healed well. I have no pain at all, which was my biggest concern, and regaining my independence has boosted my confidence. During my hospital stay I lost approximately 5 kg which I have gradually regained through alterations to my PEG feeding regime. I think the most important comment I have to make is how vital good communication with patients is, especially those with complex medical issues like myself. It helps put patients at ease and helps us make small targets each day which are achievable during our inpatient hospital stay.

Learning points.

• Dystrophic epidermolysis bullosa is a rare genetic skin condition manifesting in complex painful blistering of both the skin and internal mucosa even following gentle contact.

• Management of patients with dystrophic epidermolysis bullosa presenting for surgery requires meticulous planning and excellent communication through a multidisciplinary approach to achieve the best clinical outcome and reduce the risk of complications.

• The main intraoperative challenges include anaesthesia, patient positioning and wound closure.

• Adhesive dressings and drapes in direct contact to the skin can cause further injury and should be avoided at all costs.

• Extended perioperative antibiotic regimens could be useful to reduce the risk of surgical site infection.