Full-thickness Skin Grafts for Hand Contractures in an Adult Patient with Junctional Epidermolysis Bullosa: A Case Report

Abstract

Epidermolysis bullosa is a group of inherited skin fragility disorders with blister formation in the basement membrane zone. Chronic scarring after repeated blistering of the hands causes narrowing of the first web, flexion contractures of the digits, and pseudosyndactyly. Junctional epidermolysis bullosa is a type of epidermolysis bullosa that is characterized by blister formation in the lamina lucida. This condition is associated with survival into adulthood. In adult survivors, hand function might be required in order to participate in normal social activities. However, there is a lack of literature on the management of hand surgery for adult patients with junctional epidermolysis bullosa. We herein describe an adult patient with junctional epidermolysis bullosa who had pseudosyndactyly and flexion contractures in both hands. Five surgeries were performed. Contractures were released and reconstructed using split- or full-thickness skin grafts. Delayed wound healing was always observed due to epidermal necrosis in the graft. After epithelialization, a satisfactory functional outcome was obtained.

Introduction

Epidermolysis bullosa (EB) is a rare group of inherited mechanobullous disorders¹⁾. Blisters occur even in response to trivial trauma, such as frequent contact during daily activities. Based on the location of skin cleavage at the basement membrane, EB can be classified into EB simplex, junctional EB, dystrophic EB, or Kindler syndrome. Each can be further divided into subtypes that vary in severity. For example, recessive dystrophic EB manifests with relatively severe systemic blistering. Junctional EB severe involves blistering of systemic organs since birth. The increased risk of cutaneous malignancy shortens life expectancy; thus, survival beyond the first two years of life is uncommon. Junctional EB intermediate usually has a milder phenotype that does not affect longevity. To date, more than 29 pathogenic mutations have been identified²⁾.

Hand deformity is a complication of EB due to scarring after a history of repeated blistering and healing of the hands³⁾, which negatively affects educational and career prospects and home life⁴⁾. Among those four types of EB, hand deformity was common in recessive dystrophic EB (84%) and junctional EB (75%) in one series⁴⁾. In severe cases, entire distal extremities become encased in a scarred hyperplasic epidermal cocoon (mitten hand) over time since early infancy; this occurs in more than 90% of patients with recessive dystrophic EB³⁾. By contrast, in the late-onset subtype of junctional EB, hand and foot deformities appear in late childhood⁵⁾.

Surgical treatment for mitten hand in patients with EB, especially children, has been extensively reported, including simple cocoon removal and skin grafting as needed, with or without the use of splints^3,6-17). Given that characteristic dermo-epidermal avulsion occurs in this disease, whether to perform surgery, which type of skin graft to use, and how to manage postoperatively can be controversial. There is very little information about surgical procedures and postoperative management for hand deformities in adult patients with EB.

Case Report

A 53-year-old man was referred to our hospital for hand contractures due to suspected EB. He complained of difficulty in keyboard typing, wearing gloves, and holding cups. He quitted his jobs as an office clerk and cashier because those required much typing. He was about to start self-employment in agriculture. Therefore, he visited our clinic to look for treatment to release hand contractures to make farm work easier. He had type II diabetes mellitus that was well controlled with an oral hypoglycemic agent. His past medical history was notable for perforated duodenal ulcer treated surgically. He had no significant family history other than being born to parents in a consanguineous marriage. Physical examination showed palmar contractures and narrowed web spaces (Figure 1). Palmar abduction of the thumb was limited to approximately 40°. The proximal interphalangeal joints of the digits had flexion contractures at approximately 45°. These impairments correspond to mild to moderate hand deformity in Tuncer's classification, which categorizes EB-related hand deformities into three groups based on the degree of pseudosyndactyly and proximal interphalangeal joint flexion deformity⁶⁾. Bilateral anonychia was also present. Especially on the palmar side, skin was dehydrated and inflexible. Fresh blisters and scars that had formed after blister healing were seen on his hands, elbows, knees, and soles. He performed daily puncture and dressing care for blisters by himself. He reported that his hands, feet, and nails were intact when he was born; blistering and the loss of the nails started in elementary school every time after vigorous exercise. A dermatologist performed punch biopsy of a newly induced blister on the dorsum of the foot. Dermo-epidermal separation was seen microscopically, which suggested a diagnosis of junctional EB. A genetic examination revealed that the patient had the homozygous missense mutation c.3908G > A, p.R1303Q in COL17A1, which was consistent with late-onset junctional EB⁵⁾.

Figure 1.

Preoperative appearance of the hands in a patient with junctional epidermolysis bullosa in extension (a) and flexion (b) and with the thumbs in abduction (c).

A plastic surgeon who had more than 20 years of hand surgery experience performed five surgeries over 7 years (Figure 1, 2, 3, 4 and 5, Table 1). Bilateral hand contractures were treated in alternate fashion. Contractures affected the palms, digits, and first webs. Under general anesthesia and tourniquet control, subcutaneous contractures were released using a scalpel and electric cautery. While releasing contractures, the epidermis at the wound edge was easily avulsed, even with gentle handling. A step was formed between the wound edge and bottom due to the inflexible nature of the palmar skin (Figure 2). The subcutaneous fat layer was thin and fibrous (Figure 3). The resultant skin defects were covered by skin grafts from the abdomen. An elliptical skin was harvested from the abdomen and the wound was primarily closed. After skin grafting, the thumb and digits were immobilized with Kirschner wires and a splint for approximately two weeks. Partial necrosis of the grafts was always observed at the first dressing change (1-2 weeks after surgery) (Figure 2, 3 and 4). Washing with saline followed by application of ointment with petrolatum substrate was used to keep the graft site wet. Necrotic tissue detached spontaneously from the dermis. Epithelialization proceeded from the periphery toward the center. Grafts on the dorsal side healed relatively faster than those on the palm (Figure 4). Complete closure of the wounds on the palmar side usually required 8-15 weeks (Table 1). We used split-thickness skin graft for the first surgery and full-thickness skin graft for the other surgeries. After the first surgery, the patient was not completely satisfied with the result because he could not hold a plastic bottle. After the second surgery, the patient's satisfaction was much higher. The thumb abducted widely enough for holding a plastic bottle. Moreover, he was able to put the hand on the table with the digit and palm fully extended. Subsequently, we used full-thickness skin graft for the later surgeries. The donor site healed by approximately seven days after surgery without complications (Figure 5). Active range of motion exercises usually started after removal of the Kirschner wires, approximately two weeks after surgery. To prevent contracture recurrence, night splints were applied for an additional three months (Figure 6). Despite prolonged wound healing, improvement in the range of motion for the thumbs and digits was achieved. At the final follow-up, palmar abduction of the thumb improved to approximately 60° and proximal interphalangeal joint flexion contractures decreased to approximately 20°-30° (Figure 7).

Figure 2.

Photographs during and after the first surgery. a. Contractures in the distal palm and first web of the left hand. b. After releasing the contractures. The skin at the wound edge was easily avulsed. c. The wound was covered with a split-thickness skin graft from the abdomen. Necrotic regions were observed on postoperative day 18 (d), which had healed by five months after surgery (e).

Figure 3.

Photographs during and after the third surgery. a. Contractures on the palmar side of the digits and the first web of the left hand. b. After releasing the contractures. Decreased fat tissues in the subcutaneous layer were observed. c. The wounds were covered with full-thickness skin grafts from the abdomen. Necrotic regions that were observed in all the grafts on postoperative day 7 were gradually replaced by epidermis with pigmentation (d–g, arrows). Extension of the digits and abduction of the thumb were maintained at two years after surgery (h).

Figure 4.

Photographs during and after the fourth surgery. Contractures in the palm (a) and the second web space (e) of the right hand were released. The wounds were covered with full-thickness skin grafts from the groin region (b and f). Necrotic regions were observed on postoperative day 13 (c and g), especially in the graft on the palmar side (arrows). These regions were replaced by epidermis with pigmentation (d and h).

Figure 5.

Series of photographs show the course of healing of the donor site after the five surgeries.

Table 1.

Characteristics of the Five Consecutive Surgeries.

Surgery	Age (years)	Side	Surgical sites	Donor site	Type of skin graft	Time required for wound healing (weeks)
1	54	Left	First web and distal palm	Abdomen	STSG	15
2	55	Right	First web and thenar region	Abdomen	FTSG	8
3	56	Left	First web and palmar side of the digits	Abdomen	FTSG	9
4	58	Right	Second web and distal palm	Groin	FTSG	13
5	61	Right	Third and fourth webs	Abdomen	FTSG	11

STSG, split-thickness skin graft; FTSG, full-thickness skin graft

Figure 6.

Soft splint applied to the first web of the right hand.

Figure 7.

Postoperative appearance of the hands in extension (a) and flexion (b) and with the thumbs in abduction (c). The spaces between the thumb and index finger of both hands had widened.

Discussion

Juvenile patients with EB and mitten hand have complete loss of hand function³⁾, whereas adult patients with EB have milder symptoms. Therefore, the purpose of the treatment of hand deformities in juvenile and adult patients with EB is different. For mitten hand in juvenile patients, the goal is to achieve minimum motor skills in order to promote psychomotor development. In adult patients, the goal is to enable fine motor skills to accomplish daily activities more easily and reduce the impact on life decisions, especially regarding work. A study of life burden in patients with EB showed that more than 80% of patients feel that they have difficulty in choosing work and working full time, thus leading to financial burdens as well⁴⁾. In fact, the main purpose of the visit in this case was to prepare for work.

Although there are several reports about surgical treatment for mitten hand in dystrophic EB, very few reports about surgical treatment for mild hand contractures in adult patients with junctional EB are available. Although the subtype is different from the present case, Gough et al.¹⁸⁾ performed a number of contracture release surgeries and both full-thickness (Wolfe grafts) and split-thickness skin grafts in combination with arthrodesis over 9 years in a 22-year-old woman with mitten hand from dystrophic EB; there were repeated recurrences that required amputation of a finger. Cicarelli et al.⁷⁾ suggested that surgery for dystrophic EB in patients of all ages is indicated when there is palmar contracture, contracture of the proximal interphalangeal joints greater than 30°, significant small finger involvement, syndactyly extension to the proximal interphalangeal joint, or impairment of activities in daily living. Others have suggested that rapid decline in hand function should be an indication for surgery¹⁰⁾. Rees et al.¹⁴⁾ recommended skin grafting only when the dermis was damaged under the cocoon and suggested that simple removal of the cocoon was sufficient when the dermis is intact in juvenile dystrophic EB because they believe that fibrosis and shortening of dermis are pathogeneses of contracture formation. Ladd et al.¹⁰⁾ presented the dermal graft phenomenon in which epithelialization occurred on grafted dermis. In our patient who did not have dystrophic EB, the surface area of the graft site was maintained after epithelialization even though the skin graft was partially damaged, suggesting that at least the dermal part of the graft had taken. We believe that the dermal graft phenomenon could have contributed to the improvement in hand function in our patient.

Generally, full-thickness grafts are preferred over split-thickness skin grafts due to better functional outcomes and less potential to form scars^10,19). However, when recipient site vascularization is insufficient for the survival of the full-thickness skin graft, or when patients have underlying diseases that affect wound healing, split-thickness skin grafts are preferred²⁰⁾. In the present case, all surgeries were done with only full-thickness skin grafts after the first surgery. Patient satisfaction was higher for the second and subsequent operations. Partial necrosis was always observed, regardless of skin graft thickness, suggesting that the use of split-thickness skin grafts was not advantageous for graft take in this case.

The fact that every donor site in the abdomen always healed, as in healthy adults, led to the concept that the skin of the abdomen might have a distinct wound healing potential. Several possible causes of epidermal necrosis of grafts are seen in this case. Dermo-epidermal separation of skin grafts is associated with harvesting procedures. The inflexible and easily avulsed skin and the step formation at the wound edge might be associated with incomplete graft attachment. The thin and fibrotic subcutaneous layer might be associated with poor vascularity. The fact that necrosis was most commonly present in the palm supports the possibility of limited vascular reperfusion from the wound bed.

Rehabilitation is important in the postoperative management of hand contractures in EB. Early motion exercise and postoperative use of both dynamic and static splinting have been recommended for mitten hands in juvenile patients with dystrophic EB¹⁶⁾. Long-term application of static splints is associated with the prevention of recurrent hand contractures¹⁷⁾. Likewise, we used a soft orthosis for several months postoperatively (Figure 6). Although hand contractures in our patient were milder than mitten hand in juvenile patients with EB, contracture recurrence is a concern of utmost importance. Longer follow-up is needed to confirm maintenance of hand function.

Author Contributions: SS performed all the surgeries. YI, YK, and KN were in charge of histopathological and genetic analyses. SN and SS wrote the manuscript. All the authors interpreted the data and reviewed the manuscript.

Conflicts of Interest: The authors declare no competing interests.

Ethical Approval: This case report does not require an approval by the institutional review board.

Informed Consent: Written informed consent for surgeries, examinations, and this report was obtained from the patient.

Disclaimer: Authors Susumu Saito and Naoki Morimoto are editorial committee members of Journal of Plastic and Reconstructive Surgery. These authors were not involved in the peer-review or decision making for this paper.