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Surgical management of hand deformities in recessive dystrophic epidermolysis bullosa
SURGICAL MANAGEMENT RECESSIVE DYSTROPHIC
OF HAND DEFORMITIES IN EPIDERMOLYSIS BULLOSA
By HARVEYA. ZAREM,~M.D., ROGERW. PEARSON,M.D. and NORMANLEAF, M.D. PEARSON has categorised
the mechano-bullous diseases as non-scarring and scarring (Pearson, 1962; Pearson, 1971). The non-scarring group includes epidermolysis bullosa simplex, recurrent bullous eruption of the hands and feet, and epidermolysis bullosa hereditaria letalis. In the scarring group are the dominantly inherited dystrophic epidermolysis bullosa which is mild in nature and the genetically recessive form which includes the cases under discussion. Dystrophic epidermolysis bullosa is an unusual hereditary disease of the skin which manifests itself by the formation of subepidermal bullae subsequent to minor trauma (Andrews and Domonkos, 1963; Pearson, 1967). The disease is apparent at birth or in the early neonatal period. Although the bullae may occur over all of the skin and mucosal surfaces, the incapacitating deformities occur chiefly on the hand and to a lesser extent on the feet. The continuing fragility of the skin and the severity of the hand deformities have discouraged surgeons in the past from attempting reconstructive operative procedures. Pathologically there is disintegration of the subepidermal connective tissue (Fig. I) of uncertain aetiology, possibly due to a structural defect or to the action of collagenase at the epidermal-dermal juncture (Eisen, 1969). This connective tissue damage leads Recurrent lesions and scarring result in severe flexion contractures to scar formation. of the fingers (Fig. 2). Two or more fingers frequently fuse and become encased in a mitten of epidermis with the fingers in flexion. Within this mitten, individual fingers retain some independent mobility. With time the progressive scarring results in severe loss of extension and loss of independent finger motion. The thumb is usually contracted in adduction and flexion. Elsewhere on the body, especially in areas most liable to trauma, superficial erosions and crusts occur. Dental defects, mucosal scarring in the oral cavity, pharynx and oesophagus often interfere with eating and swallowing. Ultimately some patients develop skin cancers, most of which are squamous cell carcinomas. Secondary amyloidosis has been reported in long-standing cases (Thivolet et al., 1966). Physical development is often severely retarded, but not necessarily, and mental development has been normal in our patients. At the University of Chicago Hospitals 55 patients have been seen with epidermolysis bullosa, 15 of which have had dystrophic epidermolysis bullosa. The ages ranges Conservative management from newborn to 30 years old with an equal sex distribution. consists mainly of protecting the skin from injury. The patient is often the best judge of these measures, but suggestions from the physician have also been helpful as in the girl in whom recurrent bullae on the forehead were avoided simply by cutting the hair short and eliminating bangs. The application of lubricants (petrolatum, aquaphor) have been effective in reducing erosions by minimising the friction coefficient of the skin and thus reducing the shearing effect of the trauma. Application of antibiotic ointment to the open skin erosions and application of topical steroids to the areas of active involvement have improved the local management of the wounds. There has been some evidence presented that systemic steroid therapy has reduced 1 Present
address: Division of Plastic Surgery, UCLA Medical Center, Los Angeles, California
90024, USA. I76
HAND
DEFORMITIES
IN RECESSIVE
DYSTROPHIC
EPIDERMOLYSIS
BULLOSA
177
the clinical activity of the disease and has improved the healing time of the erosions (Hanstein, 1963; Moynahan, 1967). Careful judgment must be exercised in selection
The basal cell (BC) is separated FIG. I. Electron micrograph of dermo-epidermal junction. from the dermis (D). The basement membrane (BM) remains attached to the basal cell. y 2,400. There is marked degeneration of the dermal connective tissue.
In of patients and in determining the dosage and the duration of steroid therapy. most of the patients under discussion the systemic steroid therapy has not been altered because of the operative procedures.
178
BRITISH
JOURNAL
OF PLASTIC
SURGERY
Four of the 15 patients have undergone reconstructive surgery with a total of IO operations on the hands and wrists. Only those patients who had significant disabling contractures were selected. Before operation the patient uses pHisohex soaks to the area because the usual vigorous scrubbing and preparation of the skin is not permissible. All hospital personnel in contact with the patient are instructed in the handling of the delicate skin. In the older patients, regional blocks are preferable to general anaesthesia. Because of the pharyngeal scarring, the anaesthetist should be consulted prior to the operation in those young patients who will require general anaesthesia. Despite many misconceptions in the past, anaesthesia has been tolerated well and there have been no special drug sensitivities noted (Kubota et al., 1961). In the operating room it is important that the intravenous canula be secured with light gauze dressings rather than the usual adhesive tape because of the skin fragility. An arm pneumatic tourniquet appropriately padded has not caused any injury to the skin, since there is no shearing force. Pressure should not exceed 250 mm. of mercury and the tourniquet time should be less than I$ hours to minimise oedema of the hand. Skin preparation has consisted of pouring aqueous iodide solution on the skin It is necessary to incise the epithelial covering, but removal of without scrubbing. the loosely attached epithelium should not exceed more than is required to expose the contracted areas. This fragile epithelial covering protects the underlying dermis and, if removed, subsequent epithelialisation is slow to occur and results in further scarring. If the epithelial mitten is removed inadvertently, it can be replaced to heal as a free skin graft. After incising the epithelial covering, there is usually a plane of dissection It is between the two dermal surfaces where dermo-dermal adherence has occurred. necessary to incise the dermis to the depth of the subcutaneous tissues over the proximal interphalangeal joints of the fingers to allow finger extension. Due to the long standing contractures, the neurovascular bundles will bowstring (Fig. 3) and it is easy to divide these inadvertently if this point is not kept in mind. In all instances a neurovascular bundle may be identified and preserved. Our experience, similar to that of Rees and Swinyard (1967) and Horner et al. (IgTI), indicates that the deep structures of the fingers (flexor tendons, extensor tendons and joint capsules) have been remarkably well preserved and will allow almost full range of motion despite the prolonged contracture; anaesthesia of the finger or ischaemia of the finger tip from stretching the neurovascular bundle must however be avoided. A Kirschner wire placed through the distal phalanx for skeletal traction and attached by rubber bands to an external frame permits gradual extension and retention of extension during healing. Initial reconstructive efforts were aimed at complete release of the flexion contractures, restoration of the web spaces, and correction of the adduction contracture of the thumb (Fig. 4). In the small fingers of children, grafting the fingers individually has This resulted in longitudinal scars which have encouraged further flexion contractures. experience has suggested that releasing all 4 fingers as a unit and resurfacing the palmar area with one graft might be preferable. The resultant mitten-like hand sacrifices independent finger motion, but grasp and finger-thumb opposition have been improved. After release of the contracture, the wounds may be dressed and the skin grafts may be applied post-operatively if haemostasis is not entirely satisfactory or if the extension of the fingers is not complete by the time the operative procedure is finished. After the rubber bands have been attached to the Kirschner wire, the tournique is released to make certain that the traction is not sufficient to produce ischaemia of the finger tips. Since the entire body surface is involved in the disease, it is difficult to find an
HAND
DEFORMITIES
IN
RECESSIVE
DYSTROPHIC
EPIDERMOLYSIS
BULLOSA
179
area of skin which is not grossly scarred or eroded. Although the use of full thick ness skin has been reported to be effective (Rees and Swinyard, 1967) our experience has
The right .hand of FIG. 2. this 6-year-old g;l with epidermolysis bullosa dystrophica demonstrates the encasement of the fingers within an epidermal mitten. FIG. 3. At operation the palmar skin contracture is released. Bowstringing of the neurovascular bundles limit the fingers’ full extension. FIG. 4. A split-thickness skin graft has been placed into the defect of palm and fingers.
been that full thickness grafts are unusually thick and that the disease process, separation at the epidermal-dermal junction, results in loss of the epidermal surface of full thickness grafts or pedicle flaps. For this reason medium thickness split grafts have been found
180
BRITISH
JOURNAL
OF PLASTIC
SURGERY
to be most effective. It is not feasible to cut these grafts with a drum dermatome or power dermatome because the epithelium is stripped off and the surrounding tissues are unduly damaged. The skin graft is therefore taken with a free-hand knife. Donor areas heal well. They are first covered with gauze soaked in saline and epinephrine I : 200,000 and, when haemostasis is satisfactory, dressed with Xeroform gauze impregnated with Scarlet Red. Post-operatively the hand is maintained in the dynamic splint to retain the extension of the fingers until healing has been completed. After healing, active exercises of the fingers are encouraged. Physiotherapy can play obviously only a minor role in
FIG. 5. FIG. 6.
Nine months post-operatively flexion contracture has recurred but considerable improvement in appearance and function has been retained. Five years post-operatively the hand contracture has recurred as severely as preoperatively (Fig. 2).
the rehabilitation of the fingers. In the early post-operative period local steroid therapy has been reinstituted to minimise the subsequent scarring in the operated areas. The operative procedures in no way change the activity of the disease. Because scarring continues as before, correction of the contractures will be temporary (Fig. 6). Although the high recurrence rate has been thoroughly discussed with the patients and their families, in each case the deformity was so severe that they were willing to accept repeated operations to attain useful function. After a 5-year follow-up, while the gradual recurrence of the flexion contracture is discouraging, it is encouraging that the patients are always willing to have secondary operative procedures when judged necessary. Because of the improved hand function and because of the encouragement of the patients, it is felt that operative correction of the hand deformities in dystrophic epidermolysis bullosa should be continued.
HAND DEFORMITIES
IN RECESSIVE
DYSTROPHIC
EPIDERMOLYSIS
BULLOSA
181
SUMMARY
Of 55 patients with epidermolysis bullosa seen at the University of Chicago Hospitals and Clinics, 15 patients had the dystrophic form. Hand deformities warranted reconstructive operative procedures in 4 cases. Removal of the epidermal cocoon, incision of the scarred dermis on the flexor surfaces and dissection of the neurovascular bundles allowed correction of the flexed mitten. Skin autografts (full thickness or split thickness) or pedicle flaps will heal, but they require unusual attention in these patients. The continuing disease process results in reformation of the flexion deformity over a period of several years. The improved functional capacity of the reconstructed hand warrants repeated operative procedures. REFERENCES ANDREWS, G. C. and DOMONKOS,A. N. (1963). “Diseases of the Skin”, pp. 486-488. Philadelphia: W. B. Saunders Company. EISEN, A. Z. (1969). Human skin collagenase: relationship to the pathogenesis of epidermolysis bullosa dystrophica. Journal of Investigative Dermatology, 52, 449-453. HANSTEIN, V. F. (1963). Klinisch therapeutische anmerkung zur epidermolysis bullosa dystrophica alb-papuloidea (posini). Dermatologische Wochenschrift, 148, 689-697. HORNER, R. L., WIEDEL, J. D. and BRALLIAR,F. (1971). Involvement of the hand in epidermolysis bullosa. Journal of Bone and Joint Surgery, 53-A, 1347-1356. KUBOTA,Y., NORTON, M. L., GOLDBERG,S. and ROBERTAZZI,R. W. (1961). An esthetic management of patients with epidermolysis bullosa undergoing surgery. Anesthesia and Analgesia, 40, 244-250. bullosa with severe deformity of hands and MOYNAHAN,E. J. (1961). Epidermolysis pharyngeal stenosis relieved by cortisone. Proceedings of the Royal Society of Medicine, 54, 693-695.
Studies on the pathogenesis of epidermolysis bullosa. Journal 39, 551-575. PEARSON,R. W. (1967). “Ultra Structure of Normal and Abnormal Skin”, pp. 320-334. Philadelphia: A. S. Zelickson, Leah and Febiger. PEARSON,R. W. (1971). Mechano-bullous diseases (epidermolysis bullosa). In “Dermatology in General Medicine”, pp. 621-643, edited by Fitzpatrick, T. B., Arndt, K. A., Clark, W. H., Eisen, A. Z., Van Scott, E. J. and Vaughan, J. H. New York: McGraw-Hill Book Company. REES, T. D. and SWINYARD,C. A. (1967). Rehabilitative digital surgery in epidermolysis bullosa. Plastic and Reconstructive Surgery, 40, 169-174. THIVOLET,J., MOULIN, G., DURAND,B. and PELLERET,J. (1966). Epidermolyses bulleuse dystrophique compliquee d’amylose viscerale. Lyon Medical, 215, 58-63.
PEARSON,
R. W. (1962).
of Investigative Dermatology,
27 2-E
OF HAND DEFORMITIES IN EPIDERMOLYSIS BULLOSA
By HARVEYA. ZAREM,~M.D., ROGERW. PEARSON,M.D. and NORMANLEAF, M.D. PEARSON has categorised
the mechano-bullous diseases as non-scarring and scarring (Pearson, 1962; Pearson, 1971). The non-scarring group includes epidermolysis bullosa simplex, recurrent bullous eruption of the hands and feet, and epidermolysis bullosa hereditaria letalis. In the scarring group are the dominantly inherited dystrophic epidermolysis bullosa which is mild in nature and the genetically recessive form which includes the cases under discussion. Dystrophic epidermolysis bullosa is an unusual hereditary disease of the skin which manifests itself by the formation of subepidermal bullae subsequent to minor trauma (Andrews and Domonkos, 1963; Pearson, 1967). The disease is apparent at birth or in the early neonatal period. Although the bullae may occur over all of the skin and mucosal surfaces, the incapacitating deformities occur chiefly on the hand and to a lesser extent on the feet. The continuing fragility of the skin and the severity of the hand deformities have discouraged surgeons in the past from attempting reconstructive operative procedures. Pathologically there is disintegration of the subepidermal connective tissue (Fig. I) of uncertain aetiology, possibly due to a structural defect or to the action of collagenase at the epidermal-dermal juncture (Eisen, 1969). This connective tissue damage leads Recurrent lesions and scarring result in severe flexion contractures to scar formation. of the fingers (Fig. 2). Two or more fingers frequently fuse and become encased in a mitten of epidermis with the fingers in flexion. Within this mitten, individual fingers retain some independent mobility. With time the progressive scarring results in severe loss of extension and loss of independent finger motion. The thumb is usually contracted in adduction and flexion. Elsewhere on the body, especially in areas most liable to trauma, superficial erosions and crusts occur. Dental defects, mucosal scarring in the oral cavity, pharynx and oesophagus often interfere with eating and swallowing. Ultimately some patients develop skin cancers, most of which are squamous cell carcinomas. Secondary amyloidosis has been reported in long-standing cases (Thivolet et al., 1966). Physical development is often severely retarded, but not necessarily, and mental development has been normal in our patients. At the University of Chicago Hospitals 55 patients have been seen with epidermolysis bullosa, 15 of which have had dystrophic epidermolysis bullosa. The ages ranges Conservative management from newborn to 30 years old with an equal sex distribution. consists mainly of protecting the skin from injury. The patient is often the best judge of these measures, but suggestions from the physician have also been helpful as in the girl in whom recurrent bullae on the forehead were avoided simply by cutting the hair short and eliminating bangs. The application of lubricants (petrolatum, aquaphor) have been effective in reducing erosions by minimising the friction coefficient of the skin and thus reducing the shearing effect of the trauma. Application of antibiotic ointment to the open skin erosions and application of topical steroids to the areas of active involvement have improved the local management of the wounds. There has been some evidence presented that systemic steroid therapy has reduced 1 Present
address: Division of Plastic Surgery, UCLA Medical Center, Los Angeles, California
90024, USA. I76
HAND
DEFORMITIES
IN RECESSIVE
DYSTROPHIC
EPIDERMOLYSIS
BULLOSA
177
the clinical activity of the disease and has improved the healing time of the erosions (Hanstein, 1963; Moynahan, 1967). Careful judgment must be exercised in selection
The basal cell (BC) is separated FIG. I. Electron micrograph of dermo-epidermal junction. from the dermis (D). The basement membrane (BM) remains attached to the basal cell. y 2,400. There is marked degeneration of the dermal connective tissue.
In of patients and in determining the dosage and the duration of steroid therapy. most of the patients under discussion the systemic steroid therapy has not been altered because of the operative procedures.
178
BRITISH
JOURNAL
OF PLASTIC
SURGERY
Four of the 15 patients have undergone reconstructive surgery with a total of IO operations on the hands and wrists. Only those patients who had significant disabling contractures were selected. Before operation the patient uses pHisohex soaks to the area because the usual vigorous scrubbing and preparation of the skin is not permissible. All hospital personnel in contact with the patient are instructed in the handling of the delicate skin. In the older patients, regional blocks are preferable to general anaesthesia. Because of the pharyngeal scarring, the anaesthetist should be consulted prior to the operation in those young patients who will require general anaesthesia. Despite many misconceptions in the past, anaesthesia has been tolerated well and there have been no special drug sensitivities noted (Kubota et al., 1961). In the operating room it is important that the intravenous canula be secured with light gauze dressings rather than the usual adhesive tape because of the skin fragility. An arm pneumatic tourniquet appropriately padded has not caused any injury to the skin, since there is no shearing force. Pressure should not exceed 250 mm. of mercury and the tourniquet time should be less than I$ hours to minimise oedema of the hand. Skin preparation has consisted of pouring aqueous iodide solution on the skin It is necessary to incise the epithelial covering, but removal of without scrubbing. the loosely attached epithelium should not exceed more than is required to expose the contracted areas. This fragile epithelial covering protects the underlying dermis and, if removed, subsequent epithelialisation is slow to occur and results in further scarring. If the epithelial mitten is removed inadvertently, it can be replaced to heal as a free skin graft. After incising the epithelial covering, there is usually a plane of dissection It is between the two dermal surfaces where dermo-dermal adherence has occurred. necessary to incise the dermis to the depth of the subcutaneous tissues over the proximal interphalangeal joints of the fingers to allow finger extension. Due to the long standing contractures, the neurovascular bundles will bowstring (Fig. 3) and it is easy to divide these inadvertently if this point is not kept in mind. In all instances a neurovascular bundle may be identified and preserved. Our experience, similar to that of Rees and Swinyard (1967) and Horner et al. (IgTI), indicates that the deep structures of the fingers (flexor tendons, extensor tendons and joint capsules) have been remarkably well preserved and will allow almost full range of motion despite the prolonged contracture; anaesthesia of the finger or ischaemia of the finger tip from stretching the neurovascular bundle must however be avoided. A Kirschner wire placed through the distal phalanx for skeletal traction and attached by rubber bands to an external frame permits gradual extension and retention of extension during healing. Initial reconstructive efforts were aimed at complete release of the flexion contractures, restoration of the web spaces, and correction of the adduction contracture of the thumb (Fig. 4). In the small fingers of children, grafting the fingers individually has This resulted in longitudinal scars which have encouraged further flexion contractures. experience has suggested that releasing all 4 fingers as a unit and resurfacing the palmar area with one graft might be preferable. The resultant mitten-like hand sacrifices independent finger motion, but grasp and finger-thumb opposition have been improved. After release of the contracture, the wounds may be dressed and the skin grafts may be applied post-operatively if haemostasis is not entirely satisfactory or if the extension of the fingers is not complete by the time the operative procedure is finished. After the rubber bands have been attached to the Kirschner wire, the tournique is released to make certain that the traction is not sufficient to produce ischaemia of the finger tips. Since the entire body surface is involved in the disease, it is difficult to find an
HAND
DEFORMITIES
IN
RECESSIVE
DYSTROPHIC
EPIDERMOLYSIS
BULLOSA
179
area of skin which is not grossly scarred or eroded. Although the use of full thick ness skin has been reported to be effective (Rees and Swinyard, 1967) our experience has
The right .hand of FIG. 2. this 6-year-old g;l with epidermolysis bullosa dystrophica demonstrates the encasement of the fingers within an epidermal mitten. FIG. 3. At operation the palmar skin contracture is released. Bowstringing of the neurovascular bundles limit the fingers’ full extension. FIG. 4. A split-thickness skin graft has been placed into the defect of palm and fingers.
been that full thickness grafts are unusually thick and that the disease process, separation at the epidermal-dermal junction, results in loss of the epidermal surface of full thickness grafts or pedicle flaps. For this reason medium thickness split grafts have been found
180
BRITISH
JOURNAL
OF PLASTIC
SURGERY
to be most effective. It is not feasible to cut these grafts with a drum dermatome or power dermatome because the epithelium is stripped off and the surrounding tissues are unduly damaged. The skin graft is therefore taken with a free-hand knife. Donor areas heal well. They are first covered with gauze soaked in saline and epinephrine I : 200,000 and, when haemostasis is satisfactory, dressed with Xeroform gauze impregnated with Scarlet Red. Post-operatively the hand is maintained in the dynamic splint to retain the extension of the fingers until healing has been completed. After healing, active exercises of the fingers are encouraged. Physiotherapy can play obviously only a minor role in
FIG. 5. FIG. 6.
Nine months post-operatively flexion contracture has recurred but considerable improvement in appearance and function has been retained. Five years post-operatively the hand contracture has recurred as severely as preoperatively (Fig. 2).
the rehabilitation of the fingers. In the early post-operative period local steroid therapy has been reinstituted to minimise the subsequent scarring in the operated areas. The operative procedures in no way change the activity of the disease. Because scarring continues as before, correction of the contractures will be temporary (Fig. 6). Although the high recurrence rate has been thoroughly discussed with the patients and their families, in each case the deformity was so severe that they were willing to accept repeated operations to attain useful function. After a 5-year follow-up, while the gradual recurrence of the flexion contracture is discouraging, it is encouraging that the patients are always willing to have secondary operative procedures when judged necessary. Because of the improved hand function and because of the encouragement of the patients, it is felt that operative correction of the hand deformities in dystrophic epidermolysis bullosa should be continued.
HAND DEFORMITIES
IN RECESSIVE
DYSTROPHIC
EPIDERMOLYSIS
BULLOSA
181
SUMMARY
Of 55 patients with epidermolysis bullosa seen at the University of Chicago Hospitals and Clinics, 15 patients had the dystrophic form. Hand deformities warranted reconstructive operative procedures in 4 cases. Removal of the epidermal cocoon, incision of the scarred dermis on the flexor surfaces and dissection of the neurovascular bundles allowed correction of the flexed mitten. Skin autografts (full thickness or split thickness) or pedicle flaps will heal, but they require unusual attention in these patients. The continuing disease process results in reformation of the flexion deformity over a period of several years. The improved functional capacity of the reconstructed hand warrants repeated operative procedures. REFERENCES ANDREWS, G. C. and DOMONKOS,A. N. (1963). “Diseases of the Skin”, pp. 486-488. Philadelphia: W. B. Saunders Company. EISEN, A. Z. (1969). Human skin collagenase: relationship to the pathogenesis of epidermolysis bullosa dystrophica. Journal of Investigative Dermatology, 52, 449-453. HANSTEIN, V. F. (1963). Klinisch therapeutische anmerkung zur epidermolysis bullosa dystrophica alb-papuloidea (posini). Dermatologische Wochenschrift, 148, 689-697. HORNER, R. L., WIEDEL, J. D. and BRALLIAR,F. (1971). Involvement of the hand in epidermolysis bullosa. Journal of Bone and Joint Surgery, 53-A, 1347-1356. KUBOTA,Y., NORTON, M. L., GOLDBERG,S. and ROBERTAZZI,R. W. (1961). An esthetic management of patients with epidermolysis bullosa undergoing surgery. Anesthesia and Analgesia, 40, 244-250. bullosa with severe deformity of hands and MOYNAHAN,E. J. (1961). Epidermolysis pharyngeal stenosis relieved by cortisone. Proceedings of the Royal Society of Medicine, 54, 693-695.
Studies on the pathogenesis of epidermolysis bullosa. Journal 39, 551-575. PEARSON,R. W. (1967). “Ultra Structure of Normal and Abnormal Skin”, pp. 320-334. Philadelphia: A. S. Zelickson, Leah and Febiger. PEARSON,R. W. (1971). Mechano-bullous diseases (epidermolysis bullosa). In “Dermatology in General Medicine”, pp. 621-643, edited by Fitzpatrick, T. B., Arndt, K. A., Clark, W. H., Eisen, A. Z., Van Scott, E. J. and Vaughan, J. H. New York: McGraw-Hill Book Company. REES, T. D. and SWINYARD,C. A. (1967). Rehabilitative digital surgery in epidermolysis bullosa. Plastic and Reconstructive Surgery, 40, 169-174. THIVOLET,J., MOULIN, G., DURAND,B. and PELLERET,J. (1966). Epidermolyses bulleuse dystrophique compliquee d’amylose viscerale. Lyon Medical, 215, 58-63.
PEARSON,
R. W. (1962).
of Investigative Dermatology,
27 2-E