游离全厚皮片移植术在眼部皮肤缺损修复的应用

目的探讨游离全厚皮片移植术在眼外伤、眼睑恶性肿瘤切除、眼睑皮肤色素痣切除等眼部皮肤缺损的应用及临床效果。方法我院8年来对42例眼外伤、10例眼睑恶性肿瘤、2例眼睑皮肤色素痣,共54例(54只眼)采用游离全厚皮片移植术修复眼部皮肤缺损。结果 54例(54只眼)游离全厚皮片完全存活,眼睑无畸形、功能良好。结论游离全厚皮片移植术治疗各种原因引起的眼部皮肤缺损,可获得良好的效果。     

Surgical management of deep chemical burns of the eyelids

Chemical burns of the eyelids are common, and this may lead to ocular damage. A direct insult of the eyes that result in permanent damage, is rare in facial burns. The majority of the chemical burns of eyelids are partial-thickness that heal spontaneously in 1 week. Whereas, 10 percent are full-thickness burns that require release of contractures and grafts. Wound contracture can cause ectropion of the eyelid, resulting in exposure keratitis, conjunctivitis, corneal ulcers, perforation, and even blindness. At our departments, thirteen patients with 28 chemical burns of eyelids of third-degree, were reviewed. The eyelids had burns wounds with granulation and necrotic tissue. All patients had severe cicatrical ectropion. The eyelids were released with incisions running along the eyelid margin, down to the orbicularis muscle, including the distal part of the levator palpebrae superioris muscle, when necessary. To cover the resulting defects, we use generous full-thickness skin grafts, if available, for both the upper and lower eyelids. Rarely has a tarsorrhaphy been required, and properly constructed dressing provides satisfactory eyelid margin immobilization and conjunctival hygiene. Eighteen full-thickness grafts in 10 patients are reported 8 to 12 weeks after grafting. In seven eyelids, 3 patients developed ectropion and required reconstruction of the eyelids. Our series demonstrates that the early grafting of eyelid burns with full-thickness grafts, can prevent the development of recurrent cicatrical ectropion. Split-thickness grafting should be limited to cases where we can not find the hairless donor site for full-thickness skin grafts.     

Eyelid retractor surgery as an adjunct to cicatricial ectropion repair

Purpose : To evaluate the effectiveness of eyelid retractor repair in cicatricial ectropion of the lower eyelid. Methods : The study design was a prospective case series. One hundred and twenty eight eyelids were operated on in 100 consecutive patients with cicatricial ectropion. All patients underwent lower eyelid retractor repair via a conjunctival approach combined with skin replacement to the anterior lamella with or without a horizontal lid tightening procedure. When only medial ectropion was present, a medial‐based transpositional skin flap was used to repair the anterior lamella (26 eyelids). The remaining eyelids with ectropion involving all or most of the eyelid underwent upper‐to‐lower eyelid lateral‐based transpositional skin flap repair (92 eyelids), or full thickness free skin grafting (10 eyelids). Horizontal lid tightening was performed by lateral canthoplasty in 123 eyelids. Results : Relief of cicatricial ectropion symptoms was reported in 90% of patients overall. A normal punctum position was achieved in 70% of eyelids, overall, and was highest (88%) with a medial‐based transpositional skin flap. Conclusions : Eyelid retractor repair combined with skin replacement and horizontal lid shortening is an effective procedure for cicatricial ectropion.     

Anterior lamellar deficit ectropion management

AimsTo report the outcomes of using a modified Bick’s procedure (MBP) combined with a monopedicle myocutaneous flap (MMCF) or full-thickness skin grafting (FTSG) to correct lower eyelid cicatricial ectropion.Patients and methodsA retrospective case-note review of patients undergoing cicatricial ectropion repair between 2012 and 2016 was undertaken. Patient demographics, clinical features, the type of surgery, and outcomes were analysed.ResultsTwenty-four eyelids of 21 treated patients (17 males; 81%) with lower eyelid cicatricial ectropion were identified. They presented at an average age of 79.8 years (median 78; range 58–92). The commonest symptom was epiphora (15 eyelids; 63%), 12 patients (50%) experienced intermittent irritation, and 2(8%) had mucoid discharge. The aetiology included actinic cicatricial ectropion with midface descent (n = 19, 79%), previous tumour resection (n = 3, 13%), trauma (n = 1) and other previous eyelid surgery (n = 1). At a mean follow-up period of 15.3 months (median 6; range 6–52), 22 eyelids (92%) had anatomical success with good cosmesis and two eyelids (8%) had mild residual punctal ectropion. Twenty-one patients (87%) experienced functional success. Comparing the outcomes of MBP + FTSG versus MBP + MMCF, there was no statically significant difference in terms of anatomical (p = 0.48) and functional (p = 1.0) success rates. No cases of failure or recurrence were noted during the follow-up period.ConclusionsAnterior lamellar deficit ectropion occurs in the absence of overt scarring. It is crucial to fully address both the horizontal laxity and the anterior lamellar deficit associated with such ectropion to minimise the risks of early failure and recurrence. MBP combined with FTSG or MMCF is a safe and effective treatment for such ‘cicatricial ectropion’ and has a low early recurrence rate.Subject terms: Eyelid diseases, Eye manifestations     

两个Waardenburg综合征家系致病基因突变和临床特征分析

目的 分析两个Waardenburg综合征家系中先证者和2例患病家系成员的临床表现和致病基因突变特征。设计 回顾性病例系列。研究对象 2018年北京同仁医院两个Waardenburg综合征家系4例患者。方法 记录两个家系中先证者和患病成员以及可疑患病成员的病史以及毛发和皮肤色素异常的情况，并对先证者和2例患病成员进行详细眼科检查和耳科听力检测。采集先证者、其父母及患病成员的外周血样。对先证者进行Waardenburg综合征的6个已知的致病基因Sanger测序检测，应用多种在线生物信息学分析软件对检出的突变进行致病性预测，并对致病性突变进行家系共分离验证，最后根据美国医学遗传学与基因组学学会致病性分级指南对突变进行分级。主要指标 致病基因突变、眼部及全身色素异常情况、眼底情况、听力。结果 在两个Waardenburg综合征家系中分别检出EDNRB 基因p.G186E和PAX基因p.C70R 两个杂合错义突变，分别导致Waardenburg综合征IV型和Waardenburg综合征I型。两个家系的先证者均有虹膜色素异常、听力差、头发变白和鼻根部宽的表现，但程度和部位有所不同。两个家系内所有确诊或可疑患病的成员均有头发变白或额前白发，而无皮肤色素异常表现。结论 本研究确定了两个Waardenburg综合征家系的致病基因，扩大了PAX3和EDNRB基因突变谱，基因检测是可疑Waardenburg综合征患者鉴别诊断及分型的重要手段。     

Infantile bilateral glaucoma in a child with ectodermal dysplasia

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.     

Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies

ABSTRACT

Ectodermal dysplasia (ED) is a group of several genetic conditions with absence or dysgenesis of at least two ectodermal derivatives: teeth, skin and its appendages including hair, nails, eccrine and sebaceous glands. The most important clinical findings in patients with ED are hypodontia, hypotrichosis, and hypohidrosis, which can lead to episodes of hyperthermia. Few reports have focused on the progressive keratopathy in ED. Cicatrizing conjunctivitis associated with anti-basement membrane autoantibodies has been described. We report a series of three ectodermal dysplasia patients with an ocular phenotype typically seen in ocular mucous membrane pemphigoid; conjunctival immunohistopathology revealed anti-basement membrane autoantibodies in all of them, and systemic immunosuppression proved to be effective in improving symptoms and helping to stabilize ocular surface disease.     

Medical ectropion repair. A new procedure

The lazy-T procedure described by Smith corrects medial ectropion of the lower lid by combining a horizontal full-thickness shortening of the lid with excision of conjunctiva and tarsus inferior to the punctum to invert the lid. However, some cases of senile medial ectropion involve an element of vertical traction on the skin as well as horizontal lid laxity. A new procedure is described that makes use of skin gained from horizontal lower lid shortening in the form of a medially based transposition flap to produce vertical skin lengthening. It is useful to treat medial ectropions that have horizontal laxity along with cicatricial components and has successfully relieved this condition in eight patients.     

自体硬腭黏膜移植联合眶周皮瓣修复全层眼睑缺损

目的：评价眼睑恶性肿瘤切除术后采用自体硬腭黏膜移植联合眶周皮瓣进行眼睑再造的临床效果。 方法：患者10例10眼行眼睑恶性肿瘤切除术后重度眼睑缺损,采用硬腭黏膜移植替代眼睑后层,即睑板和睑结膜层,利用眶周皮瓣修复眼睑前层。 结果：术后随访6~12mo,眼睑外观及功能基本恢复正常。硬腭黏膜移植片及转移皮瓣全部成活,无感染、移位、挛缩。 结论：自体硬腭黏膜移植联合眶周皮瓣转移修复全层眼睑缺损,效果肯定。     

硬腭黏膜移植联合眶周表浅肌肉腱膜系统皮瓣重建全层眼睑缺损

目的:探讨利用自体游离硬腭黏膜植片替代后睑组织联合眶周表浅肌肉腱膜系统(SMAS)皮瓣转移修复缺损的前层眼睑皮肤,重建因肿瘤术后或外伤所致的全层眼睑缺损的临床疗效。方法:对16例≥眼睑全长1/2中重度全层眼睑缺损患者,全部用口腔硬腭黏膜植片替代睑板和结膜,再造后层眼睑;用眶周血供丰富的表浅肌肉腱膜系统(SMAS)皮瓣转移覆盖于硬腭黏膜上,替代缺损的眼睑皮肤肌肉层再造前层眼睑,其中10例采用眼轮匝肌单蒂皮瓣,3例为颞浅动脉皮瓣,2例为上睑皮肤轮匝肌双蒂皮瓣,1例为眉上皮瓣。手术操作中首先行硬腭黏膜移植,然后根据眼睑前层缺损的部位和范围设计眶周的SMAS转移皮瓣,手术完毕行睑缘缝合3～6mo后切开。结果:全部患者随访>12mo,硬腭黏膜植片及其转移皮瓣全部成活,无移位、感染和坏死等不良反应,无收缩,眼睑外观及功能改善满意。结论:硬腭黏膜联合SMAS皮瓣转移修复重建眼睑全层缺损,可以一次性修复眼睑缺损的皮肤、睑板、结膜,疗效肯定,具有较高的临床应用价值。     

Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome

A 27-year-old woman with the syndrome characterized by ectrodactyly, ectodermal dysplasia, and cleft lip-palate had an absent lacrimal punctum in each eye, with signs and symptoms of nasolacrimal obstruction during childhood. Examination disclosed bilateral corneal vascularization and opacification, with diffuse superficial punctate staining of the ocular surface epithelium by fluorescein, an instantaneous tear film break-up time, and normal Schirmer tear measurements. A full-thickness biopsy specimen of the eyelid confirmed the absence of meibomian glands that had been suspected because of absent meibomian gland orifices and secretions. The total absence of meibomian gland secretions in this patient may be a primary feature of this case and may contribute to a lipid-deficient and unstable tear film with resultant desiccation and destruction of the ocular surface epithelium. Breakdown of the corneal epithelium in association with obstruction and infection of the nasolacrimal system may be a particularly disastrous combination for the cornea that resulted in the recurrent, severe bacterial corneal ulcers found in our patient.     

义眼座植入及全厚皮片移植眼窝再造术

目的探讨无眼球重度眼窝狭窄行义眼座植入及全厚皮片移植眼窝再造术的效果。方法8例8眼无眼球重度眼窝狭窄，行一期或二期羟基磷灰石义眼座植入术。术后3—8个月，行全厚皮片移植眼窝再造术。结果随访6个月至3年。7例义眼座位置良好，1例感染而取出。7例皮片完全存活，1例上穹窿部皮片坏死，形成新的上穹窿狭窄，3个月后再次行全厚皮片移植上穹窿成形术，术后效果良好。结论无眼球的重度眼窝狭窄患者行羟基磷灰石义眼座植入术后，二期行全厚皮片眼窝再造术，取材来源广泛，操作简便，术后效果良好。     

Canthus-sparing ectropion repair

PURPOSE: To describe a novel surgical technique for lower eyelid ectropion repair that avoids canthotomy and cantholysis and can be used in combination with external levator repair and/or in combination with blepharoplasty. METHODS: A retrospective analysis of lower eyelid procedures with the use of the canthus-sparing technique between January 1, 1998, and December 31, 1999, was performed. The canthus-sparing approach was used in 198 eyelid procedures for the correction of lower eyelid ectropion. Seventy-four (37.4%) procedures involved the correction of lower eyelid ectropion alone and 25 (12.6%) procedures involved the correction of lower eyelid ectropion during upper eyelid small-incision external levator repair. In these cases, an incision was made lateral to the lateral canthus and a periosteal flap was created at the lateral orbital rim. The inferior crus of the lateral canthal tendon was then attached to this full-thickness elevated periosteum. Twenty (10.1%) procedures involved the correction of ectropion during upper blepharoplasty and 79 (39.9%) procedures involved the correction of ectropion during combined upper eyelid ptosis repair and blepharoplasty. In these cases, the inferior crus of the lateral canthal tendon was attached to a periosteal flap created through the lateral portion of the blepharoplasty incision. RESULTS: The mean age of patients undergoing ectropion repair was 74.3+/-9.3 years (range, 42-93 years). The average duration of symptoms (most commonly tearing and/or ocular irritation) was 20+/-14 months (range, 3-84 months). Recurrences of lower eyelid ectropion or symptoms occurred in 4 (2%) eyelids. The average follow-up interval was 54+/-65 days (range, 3-330 days). CONCLUSIONS: The canthus-sparing approach to ectropion repair promotes a secure adhesion to the lateral orbital wall with minimal violation of normal anatomic structures and relations. It is time-efficient and reduces postoperative morbidity.     

Ocular symptoms and signs in patients with ectodermal dysplasia syndromes

Purpose The ectodermal dysplasia syndromes are underestimated although precise inclusion criteria have been formulated. The purpose is to establish easily detectable ophthalmologic symptoms and signs as reliable criteria for ectodermal dysplasia syndromes.Methods Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin–Goltz syndrome (1). Each patient was examined ophthalmologically. The principal outcome measures were ocular symptoms and signs in patients with different ectodermal dysplasia syndromes of varying severity.Methods Some 94.4% of the patients suffered from dry eye symptoms. Reduction of eyebrows was seen in 94.4%; the lashes were altered in 91.6%. Changes of the meibomian glands were detected in 95.45%. Corneal changes such as pannus occurred later in life.Conclusions Alterations of the meibomian glands, which were detected by meibomianoscopy, are the most reliable ocular sign of ectodermal dysplasia syndromes.     

Ocular manifestation of Ichthyosis

Purpose

Ichthyosis is a rare dermato-ocular disease. This study evaluates the presenting ocular signs, symptoms, complications and prognosis of ichthyosis in a case series from Saudi Arabia.

Methods

A retrospective chart review was performed for 11 patients with ichthyosis who presented to King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia, over the last 20 years.

Results

The most common presenting ocular diagnosis was ectropion of both the lids. Two patients developed corneal perforation with poor prognosis. Most of the patients underwent skin grafting to repair eyelid ectropion. The visual prognosis was excellent because timely surgical interventions were performed. Hence the rate of corneal complications such as perforation was low.

Conclusion

The most ocular presentation of ichthyosis is ectropion of both the upper and lower lids. Despite good visual prognosis, there were some devastating corneal complications such as perforation with unpredictable outcomes.     

Anhydrotic ectodermal dysplasia. Apropos of a case with severe ocular complications

The anhydrotic ectodermal dysplasia are malformative syndromes involving the ectodermal components of the organism. They may be associated with very varied ocular manifestations. We described one sporadic case of anhydrotic ectodermal dysplasia in a twenty-four year-old man, involving the following ocular manifestations: severe and bilateral keratopathy corneal hypoesthesia involvement of the lacrymal system horizontal nystagmus and a high rate of antilens antibodies not yet reported a far as we know in the literature.     

Rekonstruktion des medialen Lidwinkels Verfahren, Probleme und Ergebnisse

BACKGROUND: Histologically controlled excision of medial canthal eyelid tumors often creates large skin defects, which may be closed by various reconstruction techniques. PATIENTS AND METHODS: To obtain information about indications for surgery, complications, and esthetic and functional results we analyzed 39 of our patients who underwent surgery in this area between August of 1995 and January 1998. RESULTS: Four small defects were closed primarily. A free full-thickness skin graft was used in 15 patients with a medium-sized defect, and 18 patients with large defects were handled by a local rotation or transposition flap. Granulation was left to occur spontaneously in two patients in poor general health. No tumor recurrences were seen. The functional and esthetic results were good. After 3 months free transplants and rotational flaps had healed in well. Increased scarring with mild medial ectropion was seen in five patients with rotation flaps. Patients who were left to spontaneous granulation required a more intensive and longer local treatment. CONCLUSIONS: For the reconstruction of medial canthal defects after tumor excision, free skin transplants were used for small to medium, and rotation flaps for large defects. These are successful procedures with good functional and esthetic results. Spontaneous granulation is an acceptable therapeutic alternative for patients in poor general health.     

游离结膜瓣移植治疗难治性角膜溃疡疗效观察

目的:评价应用游离结膜瓣移植治疗难治性角膜溃疡的临床疗效。方法:收集2011-07/2012-12经药物治疗无效的感染性角膜溃疡患者8例,采用游离结膜瓣移植手术治疗,术中清除角膜表面溶解坏死组织,上穹隆环钻刻切全厚游离结膜瓣,覆盖角膜病变区域,10-0尼龙线间断缝合8～12针,线结埋于角膜基质,配戴角膜接触镜,术后继续药物治疗原发病。结果:全部患者术后感染控制无复发,游离结膜瓣贴敷良好,缝线拆除后结膜瓣无松脱,眼表规则,泪膜涂布良好,术后视力均不同程度提高。结论:游离结膜瓣移植术治疗难治性角膜溃疡安全有效。     

Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases

Ichthyosis is a rare inherited skin disorder characterized by abnormal keratinization of the epidermis. Cicatricial ectropion is the most common ophthalmic feature of congenital ichthyosis. Progressive subepithelial cicatrization and abnormal cornification of eyelid skin cause progressive ectropion in both eyelids, leading to lagophthalmos and corneal exposure. Surgical correction of cicatricial ectropion in these cases is challenging with unsatisfactory results. Proper processing of the donor and recipient site with lubricants and topical retinoids before surgery makes grafting easier and its survival better. We present three cases of lamellar ichthyosis with cicatricial ectropion managed with combined preoperative topical therapy followed by surgery. All patients had extremely good surgical outcomes, with none of them requiring repeat surgery.     

Ocular involvement in ectodermal dysplasia

The authors describe the ophthalmological findings and clinical course in two patients with EEC syndrome and one patient with anhydrotic ectodermal dysplasia. A retinal complication was seen in a 43-year-old patient which seems to be associated with the EEC syndrome and has not yet been described. A review of the literature indicates the frequency of ocular findings. So far, primary ocular changes in anhydrotic ectodermal dysplasia have never been observed. The older the patient, the more severe the secondary complications affecting the lids and cornea can be; the eye may even be lost.