Ocular manifestations of congenital lamellar ichthyosis

PURPOSE: To describe the ophthalmic manifestations in a series of children with congenital lamellar ichthyosis. These cases presented with varying types of eyelid abnormality associated with the systemic disease. The clinical features and ophthalmic management were studied. METHODS: The case histories of three children presenting to the oculoplastic clinic were reviewed. All were diagnosed with congenital lamellar ichthyosis and under the care of the Dermatology department. Family history and pedigree analysis was performed to determine mode of genetic inheritance. Ocular examination for visual acuity, eyelid and eyelash malposition, lid function and closure were carried out. Corneal examination including tests for exposure was also done. RESULTS: All three patients had eyelid position abnormalities from the systemic disease. There was no clinical evidence of conjunctival involvement. One patient required full thickness skin grafts to treat corneal exposure secondary to lower lid ectropion. One had mild lower lid ectropion but without corneal exposure. The third case had the unusual finding of inward turning of the anterior lamella of the upper eyelid with a marked lash ptosis and only mild ectropion of the lower lid. CONCLUSIONS: Congenital lamellar ichthyosis is a heterogeneous disorder with phenotypic variability. The most common eyelid abnormality is cicatricial ectropion of the upper and mainly lower eyelids. Most cases are managed conservatively although in severe cases secondary corneal exposure may require surgical correction. In this condition, to the best of our knowledge, the tendency for the eyelids to turn inwards has not previously been described.     

Congenital upper eyelid coloboma and cryptophthalmos

PURPOSE: To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions. METHODS: Observational case series study. Twenty-six children (age range, one day after birth to 15 years old) were included in the study: 19 with upper eyelid coloboma, 4 with classic cryptophthalmos, and 3 with both eyelid coloboma and cryptophthalmos. RESULTS: Of the 19 cases of upper eyelid coloboma, 5 occurred in isolation, 11 were associated with facial deformities, and 3 were part of a first arch syndrome (according to the Mustardé classification). All cases of classic cryptophthalmos were sporadic and nonsyndromic. All patients with coloboma with facial deformities, cryptophthalmos, and both eyelid coloboma and cryptophthalmos had similar associated facial abnormalities. CONCLUSION: Upper eyelid colobomas with facial deformities and cryptophthalmos can be considered as one anomaly. A new grading for this anomaly has been suggested. Grade 1: Coloboma without cryptophthalmos. Grade 2: Coloboma with abortive cryptophthalmos. Grade 3: Coloboma with complete cryptophthalmos. Grade 4: Classic cryptophthalmos (absence of all eyelid structures and the eye is completely covered with skin). Grade 5: Severe cryptophthalmos (with severe deformity of the nose and ectropion of the upper lip).     

Congenital ichthyosis in a Libyan child with ophthalmic manifestations

This report presents a Libyan child with congenital ichthyosis of the recessive lamellar variety complicated by severe ectropion of both upper and lower eyelids. Over a period of 12 months the degree of ectropion diminished and the anterior segments of the eyes were preserved using regular lubricating drops, vitamin A ointment and intermittent topical antibiotic therapy. Despite the pronounced initial upper eyelid ectropion no surgery was required to relieve the ectropion or prevent corneal exposure.     

Surgical treatment of cicatricial ectropion in lamellar ichthyosis

BACKGROUND. Lamellar ichthyosis is a skin disorder that is frequently associated with cicatricial ectropion and lagophthalmos. The authors present the surgical management of cicatricial ectropion in a case with lamellar ichthyosis. PATIENT AND METHODS. A 2-year-old male presented with bilateral cicatricial ectropion of the upper and lower eyelids. He had lagophthalmos and corneal punctuate staining. His skin was totally involved with the disease process except his prepuce. The patient was circumcised, and after the correction of horizontal eyelid laxity, the penile skin graft was sutured into the defects in all four eyelids. RESULTS. 18 months following surgery the patient had no lagophthalmos or corneal exposure, but had slight ectropion at the temporal side of the left lower eyelid. He had no complications from the circumcision. CONCLUSION. Prepuce is an alternative donor tissue in male patients with no other available donor site. To our knowledge, this is the second report of cicatricial ectropion corrected with a penile skin graft.     

Surgical treatment of cicatricial ectropion in lamellar ichthyosis

BACKGROUND . Lamellar ichthyosis is a skin disorder that is frequently associated with cicatricial ectropion and lagophthalmos. The authors present the surgical management of cicatricial ectropion in a case with lamellar ichthyosis. PATIENT AND METHODS . A 2-year-old male presented with bilateral cicatricial ectropion of the upper and lower eyelids. He had lagophthalmos and corneal punctuate staining. His skin was totally involved with the disease process except his prepuce. The patient was circumcised, and after the correction of horizontal eyelid laxity, the penile skin graft was sutured into the defects in all four eyelids. RESULTS . 18 months following surgery the patient had no lagophthalmos or corneal exposure, but had slight ectropion at the temporal side of the left lower eyelid. He had no complications from the circumcision. CONCLUSION . Prepuce is an alternative donor tissue in male patients with no other available donor site. To our knowledge, this is the second report of cicatricial ectropion corrected with a penile skin graft.     

Bilateral lagophthalmos in lepromatous leprosy. Case report

CASE REPORT: A case of bilateral facial palsy with paralytic ectropion, lagophthalmos and corneal damage secondary to corneal exposure in a long-standing patient with lepromatous leprosy is presented. Correction of paralytic ectropion was performed by medial cantoplasty, tarsal strip and Medpor lower eyelid spacer implantation. Lagophthalmos was corrected by gold weight implant in the upper tarsus. DISCUSSION: Ocular findings in leprosy appear in 72% of patients. Facial nerve palsy occurs in 3-19.8%, being bilateral in 5%. In long standing cases with corneal complications secondary to exposure, surgical treatment is required.     

儿童先天性双行睫矫正术的疗效观察

目的：观察睑缘后唇灰线切开联合毛囊根部摘除术矫正儿童先天性双行睫的临床疗效。

方法：收集1990-09/2015-10我院收治的先天性双行睫患者8例13眼,在全身麻醉或局部麻醉下行睑缘后唇灰线切开联合毛囊根部摘除术。术后随访3mo～5a,观察患者预后情况。

结果：术后48h,所有患者伤口已愈合,不影响活动。术后随访观察,所有患者双行睫均完全矫正,睑缘无畸形和手术瘢痕形成,睑缘灰线切口处愈合平整; 眼睑前缘不受手术干扰,未发现眼睑内外翻及倒睫; 睑缘后唇锐利平整,保持角度与眼球表面接触,无内外翻及导泪异常,无残存睫毛,无刺激症状,角膜表面浸润恢复。

结论：睑缘后唇灰线切开联合毛囊根部摘除术矫正儿童先天性双行睫疗效确切,复发率低,符合眼睑生理功能与外观要求,且手术操作简便。     

Cicatricial ectropion: repair with myocutaneous flaps and canthopexy

BACKGROUND: To evaluate the effectiveness of myocutaneous upper eyelid flaps combined with canthopexy to treat cicatricial lower eyelid ectropion. METHODS: A prospective non-comparative case series undertaken in a private practice setting. Consecutive patients with moderate lower eyelid cicatricial ectropion and upper eyelid dermatochalasis underwent transfer of a bipedicle or monopedicle flap from the upper eyelid combined with canthopexy. The main outcome measures included the occurrence of complications, eyelid position and cosmesis. RESULTS: Sixty-two consecutive cases of cicatricial ectropion repair using myocutaneous flaps and canthopexy. After a mean follow up of 20 months, 58 (93.5%) of the cases had the lower lid punctum facing posterosuperior into the tear lake, showed lid globe apposition and satisfactory eyelid position. There was mild recurrence of cicatricial ectropion in four patients (6.5%). There were no cases of graft failure or granuloma formation. CONCLUSION: The use of a myocutaneous flap from the upper eyelid combined with a canthopexy suspension suture for repair of cicatricial ectropion may offer good eyelid position and function. This technique has the advantage of avoiding full thickness blepharotomy and was associated with a low incidence of early recurrence.     

Mucous membrane graft for cicatricial ectropion in lamellar ichthyosis: an approach revisited

A 26-year-old woman with congenital lamellar ichthyosis presented with bilateral cicatricial ectropion of the upper and lower eyelids. There was severe exposure keratopathy with corneal perforation in the left eye. The generalized skin involvement necessitated the use of an alternative to correct the cicatricial ectropion. Mucous membrane graft harvested from the oral cavity was used to correct the cicatricial ectropion of upper and lower eyelid of both eyes. Six months after treatment, the mucous membrane graft was keratinized and a significant reduction in lagophthalmos was seen. Mucous membrane graft offers a promising alternative to correct cicatricial ectropion in lamellar ichthyosis.     

全身麻醉下额肌瓣悬吊治疗小儿单眼重度先天性上睑下垂

目的:观察全身麻醉下额肌瓣悬吊术治疗小儿单眼重度先天性上睑下垂的临床效果和特点。方法:对23例小儿单眼重度先天性上睑下垂行全身麻醉下额肌瓣悬吊术,男13例,女10例,2.5～7(平均4.6)岁,患眼提上睑肌力2～4(平均3.1)mm;术前确定健眼平视前方时上睑缘的位置(在上提患眼睑缘至与对侧眼等高时)。术中根据全身麻醉下眼位略上转的状态及术前健眼上睑缘的位置,将患眼睑缘上提至上角巩缘以下1～3mm。结果:随访1wk～1a,20例(87%)双眼睑缘完全或基本等高(双眼上睑缘高度差在1mm内),3例(13%)欠矫,双眼睑缘高相差约2～3mm。所有病例外观术后均较术前有明显改善或改善,均无严重的睑缘畸形、睑外翻和暴露性角膜炎等并发症,但有6例患儿术后外侧睑缘稍低,与对侧眼略不对称。结论:全身麻醉下额肌瓣悬吊术治疗小儿单眼重度先天性上睑下垂关键在于术前确定健眼上睑缘的位置,并根据术中实际眼位的变化确定上睑缘上提的量。     

Neonatal orbital abscess

PURPOSE: To describe two cases of orbital abscess in neonates and to review the literature of orbital cellulitis in neonates. DESIGN: Two interventional case reports. METHODS: Photographs, orbital computed tomography scans, and full pediatric examination were obtained in two cases of orbital abscess in neonates. RESULTS: Acute ethmoiditis with orbital abscess formation was found in both infants. In one of them, Staphylococcus aureus was identified as the source of infection. CONCLUSIONS: The clinical findings of our cases concur with the literature (eight cases) indicating that orbital abscess caused by Staphylococcal ethmoiditis is the most common form of orbital cellulitis in neonates.     

Surgical treatment of congenital eyelid malpositions in children

Congenital eyelid malpositions can be isolated or associated with other structures such as the eyeball, ocular muscles, and lacrimal pathways. It is important to separate eyelid malpositions, which are topographical disorders, from eyelid malformations, which are constitutional morphological disorders. Only eyelid malpositions will be described in this paper, with a distinction made between static and dynamic disorders. Static disorders include epiblepharon, congenital ectropion and entropion, epicanthus, telecanthus, and centurion syndrome. Dynamic disorders group ptosis and congenital eyelid retractions. Epiblepharon is characterized by the absence of adhesion between the lower eyelid retractors and the orbicularis-skin layer, which allows the anterior lamella to roll over. Congenital entropion and ectropion are very rare. They most often require surgical treatment. Epicanthus involves a semi-lunar fold of skin extending from the upper eyelid across the medial canthal area to the margin of the lower eyelid. Four types (supra-ciliaris, palpebralis, tarsalis and inversus) of epicanthus are described. Treatment requires surgery. Telecanthus is defined as an increased distance between canthi. Primary telecanthus results from attenuation of the medial canthal tendons and is usually associated with other soft tIssue abnormalities such as epicanthus or blepharophimosis, or is seen after trauma. Secondary telecanthus is caused by underlying bony malpositions with an abnormal separation between the orbits because of an increased thickness of the interorbital bones such as that seen in hypertelorism or in other complex craniofacial syndromes. Euryblepharon is distinguished by an enlargement of the horizontal palpebral fissure associated with enlarged eyelids. The etiology is unknown and patients may benefit from surgery. Congenital ptosis is characterized by a deficiency of the levator muscle. They are most often unilateral and isolated. When associated with other abnormalities such as squint, synkinesis, blepharophimosis, or craniofacial syndromes, surgical treatment may require several-stage procedures. On the other hand, isolated congenital ptosis is usually treated in childhood (3-6 years) in a single stage. Congenital eyelid retractions may affect either the lower or the upper eyelid. They make up a rare condition and most cases are associated with craniofacial syndromes such as Crouzon or Apert syndromes. Upper eyelid retractions may spontaneously improve in some cases, but lower eyelid retractions do not. Treatment requires surgery, depending on the corneal consequences.     

A CASE OF CONGENITAL ECTROPION IN DOWN'S SYNDROME

A rare case of primary congenital ectropion of all 4 eyelids in a child with Down's syndrome is reported to emphasise the problems of surgical management and to distinguish the condition from congenital eversion of the eyelids. Congenital ectropion is associated with other eyelid abnormalities and usually requires surgical measures to protect the cornea in contrast to congenital eversion which is characterised by the protrusion of oedematous conjunctiva from everted eyelids. This usually resolves spontaneously with simple supportive measures and no structural or functional eyelid abnormality remains.     

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.     

Corneal topography in involutional ectropion of the lower eyelid: preoperative and postoperative evaluation

PURPOSE: The shape and position of the eyelids affect corneal topography. This study evaluated preoperative and postoperative corneal topography in involutional ectropion of the lower eyelid. METHODS: Eighteen patients with unilateral involutional lower eyelid ectropion underwent ophthalmic examinations and corneal topography before surgical correction and at the 6-month postoperative interval. Corneal topographies were evaluated with the Holladay Diagnostic Summary package. The fellow eyes served as controls. Parameters evaluated included the regularity of astigmatism (RA), steep refractive power (SRP), flat refractive power (FRP), and total astigmatism (TA). RESULTS: Preoperatively, RA was found significantly decreased in the eyes with ectropion compared with the fellow eyes, whereas differences in other parameters were statistically nonsignificant. Postoperatively, RA was significantly increased, whereas SRP was significantly reduced. The percentage of eyes with with-the-rule astigmatism (WTRA) was increased postoperatively, although astigmatic axis changes were not systematic. CONCLUSIONS: Postoperative topographic changes may be related to either restoration of symmetry in the upper and lower lid apposition on the cornea or to rearrangement of the tear film. Further research will be required to assess whether corneal topographic findings could be used as an index of the severity of eyelid laxity and to evaluate the effects of topographic changes on corneal and total optical aberrations.     

Angeborenes Ektropium bei Ichthyosis congenita mitis und gravis

BACKGROUND: Congenital ichthyosis is a generalized hyperkeratinization of the skin at birth. Depending on clinical aspects and severity, three forms of congenital ichthyosis have been defined: mitis, tarda, and gravis. Desquamation of the parchment-like hyperkeratinized skin begins shortly after birth and may require several weeks to complete. Skin alterations in the eyelid cause shortening of the anterior lamella, subsequently resulting in ectropion. This affects the upper eyelid more often than the lower and can lead to complications such as chronic palpebral or bulbar conjunctivitis and keratinization or exposure keratopathy. Here we present two case reports illustrating the course of ichthyosis congenita mitis and gravis. PATIENTS AND METHODS: Patient 1 (ichthyosis congenita mitis): a male baby prematurely born at 34+2 weeks of gestation was delivered by cesarean section. The entire body was covered by a parchment-like hyperkeratinized skin. Both eyes showed ectropion of the upper and the lower eyelid, which was more obvious with enforced lid closure. Frequent application of external ointment and spontaneous desquamation led to resolution of the ectropion. Patient 2 (ichthyosis congenita gravis): a male baby prematurely born at 35+4 weeks of gestation was delivered by cesarean section. At birth the child showed the signs of a collodion baby with ectropion of all four eyelids in combination with a characteristic "fish mouth" and rudimentary external ears. The child died on the 14th day of life of septicaemia. CONCLUSION: In mild forms of congenital ichthyosis surgical treatment of eyelid ectropion is not required. In more severe cases a skin graft may become necessary. Various although limited sources of graft material which are discussed can be considered.     

Anterior lamella actinic changes as a factor in involutional eyelid malposition

PURPOSE: We conducted a noncomparative, retrospective chart review of 45 patients and 51 eyelids with the diagnosis of involutional entropion or ectropion that underwent full-thickness lower eyelid shortening between June 2001 and February 2004, in whom the severity of actinic damage was analyzed in relation to the eyelid position. Patients with any different surgical approach or other primary causes of abnormal eyelid position, such as paralytic, congenital, or mechanical factors, were excluded. METHODS: After excision, all eyelid specimens were examined by a single anatomic pathologist, who was masked to the type of eyelid malposition. The extent of dermal actinic change was evaluated under light microscopy, according to a previously validated grading system. RESULTS: Fifty-one eyelids from 26 male and 19 female patients were analyzed. The mean age at the surgery was 76 +/- 10 years (range, 52 to 92 years), affecting one side in 39 cases and both sides in 6 cases. The most frequent eyelid malposition was ectropion, which affected two thirds of the cases (35 eyelids). Half of the patients presented with mild actinic skin changes; however, the severity of the histologic skin actinic changes was significantly worse in patients with ectropion in comparison to those with entropion (p < 0.0001). CONCLUSIONS: Actinic damage affecting the anterior lamella of the lower eyelid contributes as an additional factor in final eyelid position in patients with involutional eyelid changes. More severe and extensive actinic changes were present in eyelids with ectropion.     

Functional lid surgery in Down''s syndrome.

Down's syndrome is associated with characteristic eyelid abnormalities. Ten patients presented with lid abnormalities leading to corneal problems. Five patients had ectropion, four of whom required skin grafting to correct the abnormality. One patient had entropion and four had chronic blepharoconjunctivitis leading to trichiasis, which was treated with double freeze thaw cryotherapy.     

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.