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Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

The ablepharon-macrostomia (AMS) and Barber-Say syndromes (BSS) are rare disorders characterized by absence of the eyelids or ectropion, macrostomia, ambiguous genitalia, abnormal ears, rudimentary nipples, and dry, redundant skin. Patients with Barber-Say syndrome also have hypertrichosis. We present a patient with a phenotype similar to AMS who has a complex rearrangement of chromosome 18, involving both an inversion and interstitial deletion. Our patient lacks the typical features of the 18q deletion syndrome. We review AMS and BSS as compared with our patient, and recognize cutis laxa as a feature shared by all. We propose that the gene(s) for this phenotype may lie on chromosome 18 in the region of the deletion or inversion breakpoints.

Abnormalities, Multiple↗

The fourth option: a novel approach to lower-lid blepharoplasty.

Three basic surgical techniques exist for lower-lid blepharoplasty: (1) the skin flap, (2) the transconjunctival approach, and (3) the skin-muscle flap. Each addresses the problems of excessive skin, muscle, and infraorbital fat either alone or in combination. None of these procedures will correct fine wrinkles. In fact, in some patients the lower-lid wrinkling appears far worse after fat removal. We describe a "fourth option" to lower-lid blepharoplasty which corrects the problem of fine wrinkling, periorbital fat herniation, and mild skin excess. For these patients, we remove the fat through a transconjunctival approach and peel the lower lid using full-strength Baker's phenol solution. To date, we have performed this procedure in 17 patients with excellent results. There have been no complications. Our longest followup is 30 months. This procedure is indicated for patients with both excess infraorbital fat and lower-lid skin with associated fine wrinkling. Only the experienced surgeon should attempt this procedure. Caution should be exercised with patients who have previously undergone blepharoplasty as severe ectropion has been reported with chemical peel around the eyelids. Lower-lid chemical peel after a modified skin-muscle flap has been described, but we believe that peeling after a transconjunctival approach is safer. We feel that with more knowledge and experience using the "fourth option" of lower-lid blepharoplasty, it will become the procedure of choice for select patients.

Adult↗

[Comèl-Netherton syndrome].

The Comèl-Netherton syndrome is a rare autosomal recessive hereditary disease. A 23-year old female presented with the classical triad of ichthyosis linearis circumflexa, trichorrhexis invaginata with bamboo hairs of up to 12 cm length and atopic diathesis. Nevertheless, more than 20 years passed before the final diagnosis was established. In addition, the patient was slightly mentally retarded and suffered from a genital papillomatosis, minimal hypergammaglobulinaemia and a marked bilateral eyelid ectropion, more severe than previously reported. Oral therapy with Acitretin was quite successful.

Acitretin↗

The extended brow lift: the toucan technique.

Brow ptosis is the main consequence of aging in the upper third of the face. Many methods have been described to correct it: skin excisions of the brow hairline, skin excisions of the forehead natural creases, skin trimmings of the temporal, coronal, or forehead hairline flaps, and endoscopic methods [1,15,17,18,24,26,27]. The authors created a procedure which is based on a forehead-temporal subcutaneous flap and a muscular relocation. It treats the brow ptosis and its surrounding area-temporal ptosis, upper and lower lateral eyelid ptosis, crow's feet-and at the same time improves the sclera show or ectropion. The method preserves the sideburn and the temporal hairline and can reduce the width between the temporal hairline and the lateral end of the eyebrow. The method produces maximum improvement, with high-quality scars and minimal evidence of surgery. The procedure is called "The Toucan Technique," due to the shape of the skin resection which looks like a toucan bird [11,13,14].

Adult↗

Lower lid blepharoplasty-The transconjunctival approach: extended indications.

The transconjunctival blepharoplasty is an elegant and secure technique especially in young people and helps to avoid the hazard of a scar. In older patients, it saves them the possible sequelae such as rounding sclero show or possible ectropion after a classical operation. Because there is no visible scar, the transconjunctival approach respects the integrity of the functional structure of the orbital septum and the orbicular muscle, the active support of the lower eyelid.

Adult↗

Blepharoplasty: A classification of selected techniques in the treatment and prevention of lower lid margin distortions.

In the past few years the approach to lower blepharoplasty complications has evolved. New and worthy preventive and curative treatments have been suggested for both scleral show and ectropion (operations with or without interruption of the lid margin, mucosal grafts, orbicularis flaps, etc.). Among these, several techniques have been chosen and analyzed, evaluating the advantages and disadvantages of each.

Blepharoplasty↗

Blepharoplasty: a personal tactical approach.

The author presents his tactical approach and personal instruments for blepharoplasties. To remove the skin excess in the upper eyelid, a special half-moon forceps grasps the excess of skin, and with a very sharp scissors, it is removed in just one cut. Treatment of fat pads uses a special hemostatic forceps, unlike the conventional one that has transverse grooves, with longitudinal grooves to prevent fat sliding after the fat pads are cut, thereby preventing problems with hemostasis. In the lower eyelid, wide undermining and excision of a significant strip of skin and muscle allow an adequate correction. Ectropion is prevented, and the correction done is stabilized with orbicular muscle and skin flap anchorage on the lateral canthal tendon. Fifteen years of experience with this technique has provided excellent results.

Adult↗

[A clinico-pathological case report of necrotizing ulcerating keratopathy due to topical anaesthetic abuse].

BACKGROUND: Topical anesthetic abuse is rare, but difficult to diagnose since most patients deny its use and the clinical changes are very similar to other corneal diseases. CASE REPORT: A 45-year-old medical doctor with a 30-year history of soft contact lens wear and recurrent corneal erosion was admitted to our clinic with a ring-shaped keratitis and intense ocular pain. A corneal smear was negative for bacterial infections and acanthamoeba but the contact lens box contained a few dead acanthamoeba and many cocci. Due to the clinical findings and the acanthamoeba found in the contact lens box acanthamoeba keratitis was diagnosed and treatment with gentamycin, pentamidine isethionat (Brolene((R))) and hexamidine (Desomedine((R))) was started. The clinical appearance did not change for 6 weeks after onset of treatment and a perforating corneal transplantation was performed for pain relief and visual rehabilitation. An iris ectropion lacking iris motility and dense cataract developed within 5 weeks and the patient admitted on direct questioning to having taken topical anesthetic (oxybuprocain) by self-medication. The histological investigation revealed few inflammatory cells. The epithelium was largely missing and few vital cells could be found in the stroma and the endothelial cell layer. Acanthamoeba could not be detected in the tissue. CONCLUSION: Topical anesthetic abuse can mimic different corneal diseases and be difficult to diagnose if the patient denies its use. In cases of keratitis with no response to treatment and strong ocular pain, topical anesthetic abuse should be considered.

Acanthamoeba Keratitis↗

[Reconstruction of the medial canthal eyelid. Methods, problems and outcome].

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.

Aged↗

A clinico-pathological study of postcoital bleeding.

METHODS: To undertake a clinical study of postcoital bleeding (PCB) in a district general hospital we retrospectively reviewed the records of 248 patients referred to the gynaecology department over a 5-year period. RESULTS: 63% were in the 21-40-year age group and 80% were multiparous. Seventy per cent were referred to the gynaecology out patients' clinic and 28% to the colposcopy clinic. Associated symptoms included menstrual abnormalities (39%) and dyspareunia (13%). Twenty per cent had benign polyps, including endometrial polyps and 25% had cervical ectropion. Cervical intraepithelial neoplasia was detected in 6.8% of cases. There was no case of invasive cancer of the lower genital tract. CONCLUSIONS: This is the first report of associated endometrial polyps contributing to PCB. We conclude that CIN may not always be asymptomatic and the incidence of cervical or endometrial cancer is low in women with PCB.

Adult↗

Histopathological findings of X-linked retinoschisis with neovascular glaucoma.

BACKGROUND: X-linked retinoschisis (XLRS) is rarely complicated by neovascular glaucoma. Only a few reports of XLRS histopathological findings with neovascular glaucoma have been published. METHODS: A 41-year-old man with XLRS complicated by neovascular glaucoma in his left eye was examined with electroretinography, B-scan, ultrasound biomicroscopy and computed tomography. He was examined by ophthalmoscopy and fluorescein angiography in the other eye. An enucleation was performed in his left eye due to uncontrollable high intraocular pressure and persistent ocular pain. We examined the enucleated eye histopathologically. RESULTS: Examination of the enucleated eye showed nuclear sclerosis of the lens, pigmented retrolental membrane and retinoschisis which separated the inner layer of the retina and made a large space in the vitreous cavity without any apparent detachment of the outer layers of the retina. Sclerotic vessels were present histopathologically in both the inner and outer layers of the retina. There was a peripheral anterior synechia, ectropion uveae and a fibrovascular membrane, which contained many lumina of neovascularization, indicating marked rubeosis iridis. Small cystic spaces were observed in both the schitic retina in the peripheral region and the foveal schisis at the outer layer of the retina. The photoreceptor cells had become markedly atrophied and multiple regions of calcification were observed. The optic nerve showed severe atrophy with gliosis, but the central retinal artery and vein were still open within the nerve. CONCLUSIONS: These histopathological findings suggest that rubeosis iridis may have developed secondarily to retinal ischemia due to occlusion of the retinal blood vessels.

Adult↗

Whitehead's hemorrhoidectomy. A useful surgical procedure in selected cases.

At the present time Milligan-Morgan's operation is the most diffusely employed and is widely considered to be the most effective of the various surgical techniques for the treatment of hemorrhoids. In this study we report our experience with Whitehead's radical hemorrhoidectomy. In a 5-year period, 1450 patients with hemorrhoids were treated at our Coloproctologic Unit. We routinely carry out the Milligan-Morgan operation. Nevertheless, in 26 patients the Milligan-Morgan operation was judged to be impossible to perform, in that the prolapsed hemorrhoids were completely irreducible and it was not possible to distinguish and separate the three piles. These patients thus underwent Whitehead's radical hemorroidectomy. All the patients who underwent Whitehead's operation were discharged within the fifth post-operative day. No episodes of incontinence were observed in any patient. The patients were followed for three years after the operation. In only one case did we verify an anal substenosis three months after the operation, which resolved after the use of anal dilators for one month. The stenosis did not recur in the course of follow-up. There were no cases of mucosal ectropion. In conclusion, the type of hemorrhoidectomy which a surgeon performs is primarily based on the surgeon's experience and training. Nevertheless, a competently performed Whitehead's hemorrhoidectomy can give satisfying results. These results are explained by improved knowledge of the anatomy of the anal region and a more accurate surgical technique. On the basis of our experience we believe that Whitehead's hemorrhoidectomy still has its place in selected cases with precise indications.

Hemorrhoids↗

V-Y advancement flap for treatment of fistula-in-ano.

PURPOSE: The management of high fistula-in-ano presents a difficult surgical challenge. Laying open of high transsphincteric, intersphincteric, and suprasphincteric fistulas is associated with incontinence. Mucosal advancement flap can be technically difficult and is associated with ectropion and incontinence. We report a new technique for the treatment of fistulas, which may eliminate these problems. PATIENTS AND METHODS: Between 1997 and 2002, 18 patients (13 males), median age 46 (range, 25-64) years with high fistula-in-ano were treated. There were ten transsphincteric, four intersphincteric, and four suprasphincteric fistulas. In all patients, perianal sepsis was allowed to resolve completely with a drainage seton before definitive surgery. The surgical technique used involved core fistulectomy, curettage of any cavity, closure of the defect in the internal anal sphincter, and a V-Y advancement buttock flap to cover the internal opening, leaving the site of the external opening for drainage while preserving both internal and external sphincters. Outcome was assessed in terms of healing and continence. RESULTS: Most patients were discharged from the hospital within 48 hours. Median follow-up was 19 (range, 3-60) months. There were three patients who failed to heal. Of these, two underwent repeat surgery and healed. Two further patients had recurrent fistulas, both of whom continued with conservative treatment. Overall, 15 of 18 (83 percent) patients experienced healing of their fistula. Continence was preserved in all patients. CONCLUSION: This procedure is easy to perform, healing is rapid, and it appears to be effective in curing fistula-in-ano while preserving both external and internal anal sphincters.

Adult↗

Resection and cryotherapy combined with amniotic membrane transplantation for the treatment of vernal keratoconjunctivitis with giant papillae.

To evaluate the efficacy and safety of resection and cryotherapy combined with amniotic membrane transplantation (AMT) for the treatment of vernal keratoconjunctivitis (VKC) with giant papillae (GP). Eight patients (16 eyes involved) with VKC, characterized by GP on the upper tarsal conjunctiva, underwent resection and cryotherapy in combination with AMT. The follow-up lasted for 3-22 months. The results showed that corneal shield ulcers and superficial punctuate keratitis healed during the first week after surgery and did not recur. Fourteen eyes (87.5 %) were symptom-free 1 month after surgery, and no GP, ectropion, trichiasis and other complications were noted, but the blood vessels of upper tarsal conjunctiva could not be clearly seen and a little conjunctival scar was observed. Recurrence of GP was observed in 2 eyes (12.5 %), with the area being less and irritation milder as compared with those before the operation. Among the two eyes, one eye was treated by cyclosporine eyedrops with improvement, but the other eye showed no improvement after the treatment, and underwent a second surgery with a cotton patch soaked in fluorouracil applied onto the supratarsal area after resection and cryotherapy. Four months after the treatment the patient presented no symptoms and GP did not recur. It is concluded that the resection and cryotherapy combined with AMT is an effective and safe treatment for VKC with GP.

Adolescent↗

The corneal endothelium and the spectrum of essential iris atrophy.

We found that the spectrum of essential iris atrophy (progressive essential iris atrophy, Chandler's syndrome, and the Cogan-Reese syndrome) began as a corneal endothelial degeneration, which, with ectopic endothelial membrane overgrowth over an open angle, followed by contraction of this membrane and further growth onto the iris, accounted for all aspects of the syndrome. The contractile membrane caused the synechiae, the glaucoma, the corectopia, the ectropion uveae, the occasional iris nodules, and the iris atrophy. Thus we found this disease to be primarily of the cornea, and only secondarily of the iris. The results of this study led us to propose a new designation for this spectrum: primary proliferative endothelial degeneration.

Adult↗

Ocular Aeromonas hydrophila.

Aeromonas hydrophila was isolated from the eye swabs of four patients. Two were thought to have definite clinical infection; one had chronic conjunctivitis complicating the wearing of contact lenses, and the other had acute conjunctivitis associated with ectropion and lacrimal duct stenosis. Two patients had no clinical evidence of infection. Both of them had swabs taken at the time of surgery. One had a cataract extraction and the other had a lensectomy and vitrectomy for a penetrating injury. The outcome was satisfactory in the two patients in whom colonization occurred, and in the patient with acute conjunctivitis, all of whom received chloramphenicol with or without gentamicin. The fourth patient was not followed up.

Aeromonas↗

Sequelae of botulinum toxin injection.

A total of 136 injections was given to 83 patients for strabismus (99 injections), blepharospasm (29 injections), and spastic entropion (eight injections). All four patients with entropion experienced temporary benefits and early recurrence; one injection resulted in temporary paralytic ectropion. Two of 13 patients treated for blepharospasm developed transient bilateral blepharoptosis. Temporary and related sequelae of extraocular muscle injection included one periocular hemorrhage, one total ophthalmoplegia, and a 44% incidence (29 of 66 patients) of blepharoptosis, which in two patients lasted more than six months. Within three days of injection one patient developed homolateral acute herpes simplex keratitis and a second died of an acute myocardial infarction. No causal relationship for these events has been established.

Adolescent↗

S-plasty for various anal lesions.

Ten patients underwent S-plasty between July 1979 and April 1990 for the treatment of various anal conditions. Six patients had giant condyloma acuminata, and there was one patient each with Bowen's disease, verrucous carcinoma, and stricture, and ectropion (Whitehead deformity). Both anatomic and functional results were satisfactory in all patients, and there were no serious complications. S-plasty is the preferred method for the reconstruction of extensive circular denuded anal canal with full-thickness graft of bilateral rotating skin flaps. It is important not only to construct large flaps with a good blood supply, but also to obtain complete hemostasis of the raw surface.

Anus Diseases↗