Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases.
To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular diseases was undertaken. Patient clinical features and the outcomes of surgery were analysed. The suspected pathogenic genes were analysed by whole exome sequencing from patients with ectodermal dysplasia and Sanger sequencing from family members. The ocular clinical features of ectodermal dysplasia with ocular diseases mainly include eyelid ectropion, lagophthalmos and absence of lacrimal punctum. All the probands underwent surgeries of full-thickness free skin flap grafting to correct ectropion. They achieved good recovery, and there were no obvious complications during the follow-up. The gene sequencing results did not show any meaningful genetic mutations. Lid ectropion is one of the key clinical traits of ectodermal dysplasia with ocular diseases. Ectropion correction with full-thickness free skin flap grafting is an effective procedure to correct ectropion for ectodermal dysplasia patients with ichthyosis-like tissue. The suspected pathogenic genes of ectodermal dysplasia with ectropion should be further verified or confirmed by large samples of the family.
- Research Article
1
- 10.1177/20595131241230739
- Jan 1, 2024
- Scars, Burns & Healing
Postburn scarring often presents a specific reconstructive challenge from both functional and cosmetic perspectives. The purpose of this study was to investigate whether autologous nanofat harvested from the donor site of full skin or a skin flap can be reused for the treatment of early postburn scaring. From July 2018 to April 2022, patients with early postburn scarring underwent scar reconstruction surgery with full-thickness skin or a skin flap for a contour deformity and/or scar contracture, and autologous nanofat grafting was performed during the same operation. The Vancouver Scar Score (VSS) and the itch and pain scores were evaluated at the preoperation time point as well as at 2-3 weeks and 3-months postoperation. A comparison was made among the same patients at different time points. A total of 17 patients, aged from 18 months to 62 years old were included in this analysis. The VSS was reduced from 10.00 ± 2.12 to 7.41 ± 1.277 at the 2-3-week postoperation time point, and to 5.53 ± 1.37 at the 3-month postoperation time point. The pain and itch score were reduced from 4.65 ± 1.37 and 6.35 ± 1.27, to 3.70 ± 1.10 and 4.94 ± 1.30 at the 2-3-week postoperation time point, and to 3.00 ± 1.28 and 3.94 ± 0.97 at the 3-month postoperation time point respectively. The VSS and pain and itch scores showed a statistically significant reduction (P < 0.05) at the 2-3-week and 3-month postoperative follow-ups compared with the preoperation time point. Autologous nanofat grafting from donor sites of full thickness skin or skin flap may be a promising treatment for an early postburn scaring as it promotes scar softening, improves itching and pain within the scar. However, this is a small case series with only 17 patients. Further conclusions need to be drawn through expanded samples for randomized controlled clinical trials. Hypertrophic scarring is the most common complication after partial thickness burn injury, and the complex pathogenesis and prolonged dynamic process render treatments only marginally effective. In the past few decades, with the technological advances of liposuction and fat grafting, nanofat grafting has been used in a variety of surgical fields, including wound healing, scleroderma, facial rejuvenation, and neuralgia. However, the role of nanofat grafting is not well documented in the prevention and treatment of early postburn scarring. Full-thickness skin grafting or skin flap transplantation is the most common method for the reconstruction of a hypertrophic scaring until now. In the current study, we harvested subcutaneous fat during the preparation of the full-thickness skin or skin flap, prepared nanofat and injected it in the scar located at a nonsurgical site. Comparison of the pre- and postoperation scores for scar color, scar thickness, scar stiffness, and scar regularity showed that the postoperation scores were decreased significantly and that there was a significant improvement in scar pigmentation and thickness as well astheaesthetic outcome after treatment. Most importantly, reductions in the scores for pain and itching could be assessed objectively. It seems that the nanofat grafting is a potential method for prevention and treatment for early postburn scaring.
- Research Article
12
- 10.1590/s1677-55382011000300013
- Jun 1, 2011
- International braz j urol
Percutaneous Renal Surgery (PRS) is a demanding procedure and success is mostly hampered by the lacking of training facilities. Thus, the purpose of the study was to evaluate a significantly improved pre-existing porcine kidney-training model for percutaneous renal access and PRS. A biologic training model using porcine kidneys coated by a full-thickness porcine skin flap was prepared. The ureter was dissected, stones were placed into the collecting system using an 18F amplatz sheath, and a catheter was placed in the ureter for further irrigation with saline or contrast medium. For initial training with an easy access, a standard guide-wire was inserted in the ureter through the renal parenchyma. The kidney was punctured with radiographic or ultrasound guidance. Minimally invasive percutaneous nephrolithotomy (MIP) was then tested using the model under radiographic or ultrasound guidance. The model was then evaluated in MIP training courses, which are regularly held at The Hannover Medical School. All trainees were urologists with experience in endourologic surgery but lacked practice in PRS. In conclusion, all 36 participants attained access to the collecting system using models with readily placed guide-wires. Subsequently, PRS was successful in all cases. Percutaneous puncture under ultrasound guidance and following intrarenal surgery was successful in 30 (83.3%) cases. Therefore, all participants rated the model useful for simulating percutaneous renal surgery. This new porcine kidney model is easy to build and is made cost effective by using readily available material. Moreover, it provides realistic and reproducible training model for PRS. The "organ" model mimics the retroperitoneum by having a full-thickness skin flap with a layer of subcutaneous fatty tissue.
- Research Article
- 10.25276/2686-6986-2022-1-127-131
- Jun 7, 2022
- Reflection
Abstract. Cicatricial eyelids deformations associated with fractures of orbital walls may result in development of eyelids ectropion and lagophthalmos. Gaping of the eye slit results in secondary lesions of the cornea and a decrease of visual acuity which requires reconstructive plastic surgery with skin flaps transplantation. This report presents a case of cicatricial lower eyelid ectropion elimination after osteosynthesis with metal implant for a fracture of zygomatic orbital complex and lower orbital wall using full-thickness skin flap from preauricular face zone. The paper presents step-by-step description of the surgical technique as well as of the early and late post-op period. As the result of surgery, complete engraftment of the skin graft, elimination of ectropion, restoration of eyelids excursion and closing were achieved. Use of full-thickness skin autograft from preauricular face zone is an adequate choice in reconstructive surgery of the eyelids. The graft has high viability providing minimal risk of rejection. The technique is simple to perform and provides high functional and aesthetic results. Key words: cicatricial ectropion of the lower eyelid; full-thickness skin graft; reconstruction of the eyelids.
- Research Article
1
- 10.1097/scs.0000000000007265
- Nov 23, 2020
- Journal of Craniofacial Surgery
The aim of this study was to introduce a method for repairing donor site defects after harvesting forearm free flaps with dual triangular flaps combined with in situ small full-thickness skin flaps. Free forearm skin flaps were applied to repair defects after tumor resection in 25 patients with oral squamous cell carcinoma. Although forearm free flaps were prepared, dual triangular flaps and adjacent full-thickness skin flaps were designed and fabricated to repair donor site defects in situ. Twenty-five cases of forearm donor site defects were successfully repaired with dual triangular flaps combined with in situ small full-thickness skin grafts. All adjacent full-thickness skin grafts used to close the donor site defect of the forearm survived, and the wound healed well without delayed wound rupture or serious complications at the donor site. The movement of the elbow and wrist joint on the side of the flap was normal, the blood supply in the palm was normal, and the skin color at the donor site of the forearm skin flap was similar to that of the surrounding tissue. There was no dent deformity or contracture deformity. Moreover, there was no significant difference in swelling and wrist movement between the adjacent forearm skin grafting group and the abdominal skin grafting group, but the former technique reduced the risk of scar infection and tendon exposure and greatly improved the esthetics of the surgical site on the forearm. Modified donor dual triangular flaps combined with adjacent full-thickness skin grafts can reduce the recovery time during and after surgery and avoid trauma at a third surgical site. This method is worthy of practical application in the preparation of forearm skin flaps for oral and maxillofacial surgery.
- Research Article
1
- 10.1097/bto.0000000000000557
- May 18, 2021
- Techniques in Orthopaedics
Modified Unipolar Latissimus Transfer to Restore Elbow Flexion in Musculocutaneous Nerve Palsy
- Research Article
6
- 10.3760/cma.j.issn.1009-2587.2019.11.004
- Nov 20, 2019
- Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns
Objective: To analyze clinical characteristics and wound repair methods and effects of patients with upper limb electric burns. Methods: Medical records of 136 patients with upper limb electric burn who met the inclusion criteria and hospitalized in our unit from January 2015 to March 2019 were retrospectively analyzed. Proportion in patients with electric burns in the same period, gender, age, admission time, categories, injury causes, injury voltage, burn area and depth of upper limb, simultaneous injury of both upper limbs, and early wound treatment measure of patients with upper limb electric burn were recorded. The main repair methods of each affected limb were classified and recorded. The overall efficacy of the patients was recorded, including postoperative wound complications and healing condition. The patients repaired with distal pedicled flaps and those with free flaps were followed up for 3 to 6 months. The survival rate of flaps were recorded, the function of affected limbs after operation was evaluated, and the satisfaction degree of patients was investigated by Curative Effect Score Table. The amputation rate, age, and burn area of upper limbs of patients caused by high-voltage and low-voltage electricity were compared. Data were processed with Wilcoxon rank sum test, chi-square test, or Fisher's exact probability test. Results: (1) The number of upper limb electric burn patients accounted for 88.3% of 154 patients with electric burns hospitalized in the same period, including 117 males and 19 females, aged 1 year and 2 months to 72 years [(34±18) years], admitted 1 h to 48 d after injury, including 51 electricians, 32 rural migrant workers, 31 students and preschool children, and 22 patients belonging to other categories. Patients of the first two categories were mainly injured by work accidents, and those of the latter two categories mainly suffered from touching power source or power leakage. Among all the patients, 75 cases were injured by high-voltage electric burn, and 61 cases were injured by low-voltage electric burn, with burn area of upper limb from 0.2% to 16.0% [2% (1%, 5%)] total body surface area (TBSA) and area of wounds deep to bone from 0.2% to 15.0% [2% (1%, 5%)] TBSA. Two upper limbs in 54 cases were simultaneously injured, accounting for 39.7%. Early fasciotomy was performed for 73 limbs. (2) Thirteen affected limbs were treated with dressing change, 2 affected limbs were sutured directly after debridement, 56 affected limbs were repaired by skin grafting, 12 affected limbs were repaired by local flap, 45 affected limbs were repaired by distal pedicled flap, 22 affected limbs were repaired by free flap, and 40 affected limbs were amputated (accounting for 21.1%). (3) One case died of pulmonary infection, sepsis, and multiple organ failure after operation, and the rest patients were all cured. One case with avulsion of abdominal flap was repaired by skin grafting after dressing change. The anterolateral thigh flap in one case necrotized after transplantation, which was replaced by pedicled abdominal flap. Seven cases had small erosion on the pedicle or margin after transplantation of abdominal flap and were healed by dressing change. Six cases had local bruising at the distal end after transplantation of abdominal flap and were healed after conservative treatment such as hyperbaric oxygen. The other flaps survived well. (4) The survival rate of distal pedicled flap grafting was 97.8% (44/45), which was close to that of free flap grafting (95.5%, 21/22, P>0.05). The function recovery of affected limb after free flap grafting was better than that of distal pedicled flap grafting (Z=-3.054, P<0.01), but their satisfaction degree of patients was similar (Z=-0.474, P>0.05). (5) Patients with high-voltage electric burn had higher amputation rate, older age, and larger upper limb burn area than those with low-voltage electric burn (χ(2)=4.743, Z=-2.801, -6.469, P<0.05 or P<0.01). Conclusions: Upper extremity electric burn often occurs in children, electricians, and rural migrant workers with high rate of amputation. Teachers and parents should strengthen safety education for children and manage power source of life well. Workers should improve safety awareness and operate standardly. Fasciotomy for relaxation should be performed for electric burn wound as soon as possible, and flap grafting can effectively repair wound after early debridement. The function recovery of affected upper limb repaired with free flap grafting is better.
- Research Article
4
- 10.1097/gox.0000000000000466
- Sep 1, 2015
- Plastic and Reconstructive Surgery Global Open
Background:Wound re-epithelialization has been traditionally described to occur from the dermal appendages of the wound edges. As such, the role of the dermal wound bed in re-epithelialization has been questioned. In a patient undergoing breast reconstruction with free tissue transfer, the buried portions of the free flap skin paddle could be either de-epithelialized or deskinned. In case of mastectomy skin flap loss, the role of de-epithelialized skin in wound healing has not been described before.Methods:We report a patient with bilateral mastectomies and bilateral deep inferior epigastric perforator flaps whose postoperative course was complicated by bilateral full-thickness mastectomy skin flap loss. Multiple debridements of nonviable skin resulted in exposure of previously buried de-epithelialized skin paddle of the deep inferior epigastric perforator flap.Results:Our study demonstrates self re-epithelialization of the dermal wound bed from the dermal appendages. We noticed multiple noncontiguous neoepidermal islands in the dermal wound bed, which did not communicate with the wound edges.Conclusions:In case of full-thickness mastectomy skin flap loss, deep vascular plexus present in the dermal bed of the underlying de-epithelialized skin paddle of the free flap converts an otherwise full-thickness wound to a partial-thickness wound. Our study demonstrates the self-epithelialization potential of the de-epithelialized dermal wound bed from the dermal appendages when exposed to air and in the presence of wound healing elements.
- Research Article
11
- 10.2302/kjm.34.87
- Jan 1, 1985
- The Keio journal of medicine
Classification of the pedicled skin flap is given to confusion due to recent development of the fasciocutaneous flap, septocutaneous flap and adipofascial flap.This paper presents new concept and simpler classification based on histological structure of the pedicled skin flap.The pedicled skin flap is subdivided into 2 types; split thickness skin flap (cutaneous flap and adipofascial flap) and full thickness skin flap (fasciocutaneous flap and septocutaneous flap), adopted to the concept in classification of free skin grafting (split thickness skin graft and full thickness skin graft).
- Research Article
16
- 10.21037/tp-21-399
- Oct 1, 2021
- Translational Pediatrics
BackgroundTo investigate the clinical experience and discuss the use of vacuum sealing drainage (VSD) combined with free anterolateral femoral flap grafting to treat pediatric foot and ankle soft tissue traumas.MethodsThis was a retrospective analysis of 16 pediatric patients with foot and ankle soft tissue traumas treated with free anterolateral femoral flap grafting from January 2015 to January 2018. After successful debridement and VSD, the clinical efficacy of the procedure was evaluated by observing parameters such as the color, shape, and texture of the flap on the receptor site.ResultsAll patients were followed up for 23–32 months after surgery. Of the 16 patients, six had a flat flap appearance, while the remaining ten patients required flap repair surgery 6–9 months after the procedure. Eight of these ten patients had a satisfactory repair, and the remaining two patients had further repair surgery 9–10 months after the flap grafting. The postoperative results of all patients were satisfactory; no local infection, good flap survival, soft texture, glossy elasticity, and flat appearance. Statistical results showed only one case of local necrosis at the distal end of the flap, and the wound healed at stage II after redebridement and dressing change.ConclusionsVSD combined with free anterolateral femoral flap grafting is an easy and reliable operation with a good prognosis and excellent clinical utility and feasibility for treating pediatric patients with foot and ankle soft tissue traumas.
- Research Article
1
- 10.1016/j.ijscr.2020.06.012
- Jan 1, 2020
- International Journal of Surgery Case Reports
IntroductionSevere burn contractures of the upper lip are usually treated either with full thickness skin grafts or flaps. Most authors recommend the free radial forearm flap as the flap of choice. In males, another free flap option is the use of the superficial temporal artery hair-bearing free flap. Case reportsIn this report, we demonstrate that the superficial temporal artery hair-bearing flap may be used as a pedicle flap (rather than a free flap) for the reconstruction of severe upper lip burn contractures in males. We show our method of flap delay and design to ensure that the distal part of the flap will survive; and this will be demonstrated in two case reports. DiscussionThe pedicled superficial temporal artery flap is much simpler to execute than free flaps. ConclusionsSevere post burn contractures of the upper lip in males may be reconstructed using the pedicled superficial temporal artery hair-bearing flap. In order for the flap to reach the contralateral side of the lip, it will have to cross the midline in the scalp. We demonstrate our method of flap delay and design to ensure flap safety and viability. We also show that concurrent burn deformities in close proximity of the upper lip should be treated prior to upper lip reconstruction. Finally, we stress on the principle of reconstructing the entire skin of the upper lip as one aesthetic unit.
- Research Article
18
- 10.1177/0300060514541826
- Nov 12, 2014
- Journal of International Medical Research
To determine if skin flap failure rates could be improved with the use of a dissolved oxygen wound dressing in a porcine model. Full-thickness skin flaps (4 × 16 cm) were raised on pigs. Flaps were randomly assigned after surgery to experimental treatment with a dissolved oxygen dressing (treatment group) or a hydrogel dressing (control group). Flaps were evaluated daily for 14 days. Skin flaps that failed any one of four key clinical outcomes were considered failures. Histological parameters (including skin and subcutaneous necrosis, inflammation, ischemia, fibrosis, and bacterial load) were compared by a blinded histopathologist. Sixteen full-thickness skin flaps were raised on four pigs. All animals survived surgery and all incisions were evaluable. Clinical flap failure was observed in six (75%) control-treated wounds and in two (25%) dissolved oxygen-treated wounds. Histological evaluation demonstrated no significant differences in the proximal 75% of the flaps. There were significant differences in a number of histological parameters in the distal 25% in favor of the dissolved oxygen dressing. Flaps treated with a dissolved oxygen dressing had fewer clinical failures and improved histological profiles compared with control-treated flaps, suggesting that increasing local oxygen supply may improve the local wound healing environment.
- Research Article
2
- 10.1097/00000637-199402000-00014
- Feb 1, 1994
- Annals of plastic surgery
Tretinoin is currently marketed for topical treatment of acne vulgaris and has also been used in the rejuvenation of aging skin. After topical application, it has been shown to stimulate mitotic activity and increase vascularity in skin. In this study a porcine model was used to test the hypothesis that presurgical treatment with topical tretinoin would increase the surviving area of random full-thickness skin flaps. Four hybrid barrows, 40 to 60 lb, were treated with tretinoin and 4 similar animals were treated with placebo (carrier vehicle) for 2 weeks before raising four dorsally based full-thickness skin flaps (4 x 12 cm) on each animal. Biopsies were taken from tretinoin-treated, placebo-treated, and untreated skin at the time the flaps were initially raised and 1 week later before killing the animals. All tissue was processed for light and electron microscopy. One week after surgery, the pigs were killed. Photographs were taken at the termination of the experiment and the negatives were digitized and analyzed using a high-speed graphics workstation supported by SGITrace software. The percentage of skin flap survival was determined using this method of image analysis. Using repeated-measures analysis of variance, there was no significant difference in the mean flap survival between the tretinoin (mean = 46.75; SEM = 7.05) and placebo (mean = 65.80; SEM = 7.05) treated groups at the 0.05 significance level. Pretreatment with tretinoin did not enhance skin flap survival under the conditions of this study. Rationale for this finding and possible modifications of future studies are discussed.
- Research Article
4
- 10.3390/jcm13164900
- Aug 20, 2024
- Journal of clinical medicine
This review aimed to evidence the predisposing conditions for Salzmann nodular degeneration (SND), where particular attention was paid to its association with ocular and systemic diseases. SND is a rare disease characterized by bluish-white nodules located in the mid-periphery of the cornea, which are otherwise completely clear. SND has been found in association with different systemic and ocular diseases, and it may have unilateral or bilateral presentation. Initial forms are only diagnosed occasionally as they are asymptomatic, whereas, in advanced disease, the visual acuity might be seriously impaired. Although SND is well described, its exact etiopathology is currently still unknown and is frequently misdiagnosed. It is associated with ocular surface inflammatory conditions and previous corneal surgery, and it has been described in different systemic diseases. Diagnosis is clinically based with slit lamp examinations, and instrumental assessments with corneal topography permit one to observe the alterations of the corneal profile, whereas anterior segment-optical coherence tomography (AS-OCT) is used to investigate the stromal depth of the nodules. Therapy might be conservative with the objective of improving the ocular surface homeostasis and surgical outcomes, where the aim is to restore the corneal regularity and visual acuity. Ophthalmologists should pay particular attention when detecting nodules in patients with ocular and non-ocular inflammatory diseases to guarantee the patient a timely diagnosis and a better therapeutic outcome. Additionally, collaboration between specialists who deal with treating patients suffering from disorders potentially associated with SND is recommended.
- Research Article
10
- 10.3109/02844319109034924
- Jan 1, 1991
- Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery
A technique for the correction of ectropion of the lower lid by transposition of a full-thickness skin flap from the ipsilateral upper eyelid to the lower lid has been used in seven patients. The technique allows great flexibility in the extent of the approximation of the lower lid to the eye globe. The pedicle is based medially to obtain close contact between the lower punctum and the eye globe. There were no complications. We believe that the eyelid skin flap transposition technique is a useful operation for the correction of moderate to severe senile and paralytic ectropion.
- Research Article
24
- 10.1097/01.prs.0000282039.99450.9d
- Nov 1, 2007
- Plastic and Reconstructive Surgery
The value of primary flap defatting remains unclear. This experimental animal study provides a novel theory on the problem of primary defatting, "steal of perfusion" to the skin by fat. This theory is based on the fact that the fat brings blood supply to the proximal flap portion but blood is sequestered in the fat of the distal flap portion, to the disadvantage of skin perfusion. Fifteen full-thickness random-pattern skin flaps, with a 3:1 length-to-width ratio, elevated on the necks of pigs and then left in situ on a plastic sheet interposed between the flap and the deep vascularization from the muscle, were compared with 15 identical contralateral flaps, defatted in the distal half. In the 15 nondefatted flaps, necrosis of the distal half of the flap was observed. Among the 15 defatted flaps, no necrosis was observed in four defatted flaps, partial necrosis was seen in five defatted flaps, concentric necrosis in three defatted flaps, partial necrosis in two defatted flaps, and necrosis in one defatted flap. Necrosis in defatted flaps was significantly less than that in nondefatted flaps (25.6 +/- 21.8 percent of flap surface versus 50 +/- 2.7 percent; p < 0.001). There is a benefit to primary defatting. Perfusion steal exists for pedicular and peripheral vascularization. Primary partial defatting of a random-pattern flap is beneficial for distal perfusion, which is attributed to suppression of perfusion steal. Complete defatting is detrimental to flap survival. The fat is indispensable for perfusion of the proximal flap portion and is paradoxically detrimental for the distal region.