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Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression.

We report the case of a young boy with fine hair, mild nail dysplasia, blocked nasolacrimal ducts, absence of central incisors, bilateral oligodactyly of feet and anal stenosis. His father showed the same spectrum of anomalies with mild expression. He had mild nail dysplasia, blocked nasolacrimal ducts, inferior dental cysts with consequent premature tooth loss, frequent dental decays consequent to enamel abnormality and cutaneous syndactyly of the second and third right toe. The acro-dermato-ungual-lacrimal-tooth syndrome was suspected and molecular analysis of the P63 gene was performed, but no mutation was found. Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family.

Abnormalities, Multiple↗

How do tears drain? Technetium studies.

We examined the tear drainage system of twenty-fiv normal volunteers by scintillography with Technetium Tc 99m (Pertechnetate). We photographed the changes occurring in the lacrimal sac and nasolacrimal duct during closure and opening of the eyelids. Our findings support Jones' views of normal tear drainage. The tracer was concentrated in the lacrimal sac while the lids were closed for 3 minutes and descended into the nasolacrimal duct as soon as they opened.

Eyelids↗

Retrograde dilation of postsaccal lacrimal stenosis.

The causes of nasolacrimal duct stenosis in adults can vary greatly. In general, the symptoms can also vary, but most cases share a tendency toward recurring inflammations in the prestenotic area. The treatment of these disorders is limited to either conservative therapy to control inflammation or surgically invasive measures. By using balloon catheters, usually applied in percutaneous transluminal coronary angioplasty (PTCA), dilation of the relative postsaccal stenosis can be performed under radiographic control. An exact diagnosis using various testing methods, including digital dacryocystography for detailed localization and documentation of any pathologic changes, is decisive to success. Only in cases of incomplete postsaccal stenosis is retrograde balloon dilation of the distal nasolacrimal duct indicated. A guide wire, designed for the PTCA balloon catheter set, is introduced via the canaliculus to the nasal cavity antegradely and caught with a thin hook and pulled from the naris, under visual control with an image converter. The balloon catheter is retrogradely threaded over the guide wire. The baloon is then placed at the site of the pathologic stenosis under radiographic control and dilated with high pressure. To ensure the permeability of the system, monocanalicular silicone intubation has to be performed immediately afterwards. This procedure has been performed successfully on 6 patients with a follow-up of 6 to 27 months. These initial results give rise to the hope that this minimally invasive, interdisciplinary technique represents a new alternative in the treatment of incomplete postsaccal lacrimal stenosis.

Adult↗

Silicone intubation as an alternative to dacryocystorhinostomy for nasolacrimal drainage obstruction in adults.

Silicone tubing was used to repair the patency of the nasolacrimal drainage system in 115 patients (four bilaterally) with chronic nasolacrimal duct obstruction. The patients were over 20 years old and 16 were men and 99 women; 46% presented an uncomplicated obstruction with epiphora and 54% presented additional signs of chronic dacryocystitis. We used the technique of Quickert and Dryden with modifications. The silicone tube remained for a mean of 5.5 months (+/- 2.5 SD). After removal of the tube the follow-up ranged from 6 to 42 months (mean +/- SD: 16 +/- 9). Patency was maintained in 89% of cases with uncomplicated obstruction and in 69% of those with chronic dacryocystitis (total success rate 78%). We can therefore recommend silicone intubation of the lacrimal drainage system as an alternative to dacryocystorhinostomy (DCR), in adults with obstruction of the nasolacrimal duct. In addition, unlike DCR this technique is bloodless and the operation takes less time.

Adult↗

Granuloma annulare of the eyelid.

A superficial (dermal) granuloma annulare (GA) of the eyelid developed in a 69-year-old woman who initially had no evidence of precipitating causes, including trauma, tuberculosis, octopus bite, lupus vulgaris, actinic damage, sarcoidosis, diabetes mellitus, rheumatoid arthritis, systemic lupus erythematosus, or rheumatic fever. She later developed complete bilateral nasolacrimal duct obstruction that led to dacryocystorhinostomy on the right side. Systemic workup showed evidence of a lupus-like syndrome. Although deep, subcutaneous GAs have been reported in the periocular tissues, episclera, and orbit in children and young adults, a superficial dermal GA of the eyelid in an elderly patient is distinctly rare. The characteristic histopathologic feature of both superficial and deep GAs is a necrobiotic granuloma in which necrotic collagen is surrounded by a zone of histiocytes and fibroblasts. This case demonstrates that superficial GA of the eyelid may be associated with an underlying lupus-like syndrome. This case also raises the question of whether GA of the eyelid and lupus erythematosus may be associated with bilateral nasolacrimal duct obstruction.

Aged↗

Drainage of tears: impact on the ocular surface and lacrimal system.

The human efferent tear ducts are part of the lacrimal system. Because little knowledge exists concerning the physiology of the nasolacrimal system, and hence its patho- physiology, the nasolacrimal system has received almost no consideration as a possible factor in dry eye. The human nasolacrimal ducts consist of the upper and the lower lacrimal canaliculus, the lacrimal sac, and the nasolacrimal duct. As a draining and secretory system, the efferent tear ducts play a role in tear transport and nonspecific immune defense. Moreover, components of tear fluid are absorbed in the nasolacrimal passage and are transported into a surrounding vascular system. This system is similar to a cavernous body that is subject to autonomic control and regulates tear outflow. Tear duct-associated lymphoid tissue (TALT) is present in the efferent tear ducts, displaying the cytomorphological and immunophenotypic features of mucosa-associated lymphoid tissue (MALT). Under normal conditions, tear fluid components are constantly absorbed into the blood vessels of the surrounding cavernous body. These vessels are connected to the blood vessels of the outer eye and could act as a feedback signal for tear fluid production, which ceases if these tear components are not absorbed. In this way, dry eye could be initiated. Defective stimulation of TALT could result in abnormal immune deviation at the ocular surface, leading to an autoimmunological response that causes dry eye pathology.

Journal Article↗

[Embryologic study of the lacrimal ducts in man. Apropos of 10 cases].

The embryology of the human lacrimal system is not clearly defined in the literature and two hypotheses exist: the first suggests that the origin of the lacrimal system is from an ectodermal fold forming a sulcus of the naso-optic fissure. The second, with few defenders, describes the first rod of cells as meeting a second one which appears to emerge from the primitive nasal cavity. A study of ten human embryos, aged from 14 to 25 weeks and with a length of 12 to 33 cm, examined by histologic sections of 10 microns, revealed no lacrimal origin in the primitive nasal cavity near the inferior meatus. A further interesting point was that in three of the four embryos aged four months the lacrimal point was opened. Most authors, however, found the lacrimal sac and the nasolacrimal duct to be dilated, especially in one case where the inferior part of the nasolacrimal duct at the ostium below the inferior turbinate and meatus was widely dilated. In all the cases, the lower end of the duct was separated from the nasal cavity by a fine membrane in opposition with the nasal mucosa.

Epithelium↗

[Tear outflow. Impact of mucins and TFF-peptides].

The epithelial lining of the lacrimal sac and the nasolacrimal duct consists of pseudo-stratified, columnar epithelia rich in goblet cells. Major secretory products of the epithelial cells are mucins together with TFF peptides. Expression and distribution of several mucins and TFF peptides in the human efferent tear ducts was investigated by means of reverse transcription-polymerase chain reaction (RT-PCR) and immunohistochemistry. mRNAs for all the mucins investigated, MUC1, MUC2, MUC4, MUC5AC, MUC5B and MUC7, were detected in healthy human lacrimal sacs and nasolacrimal ducts. Both MUC5AC and MUC5B were detected in goblet cells forming intraepithelial mucous glands. MUC7 together with TFF3 occurred only in columnar epithelial cells of the efferent tear duct system. The mucin diversity of the efferent tear ducts could enhance tear transport and antimicrobial defense. The absence of some mucins in non-functioning although patent segments of the lacrimal passage, suggests that mucins ease tear flow through the efferent tear ducts because these conditions are associated with epiphora. Disorders in the balance of single mucins could be of importance with regard to dacryostenosis, dacryocystitis and dacryolith formation.

Biological Transport, Active↗

New techniques in suture-aided tear duct intubation.

Modifications in the technique of nasolacrimal duct intubation by suture pull-through are presented, improving suture accessibility within the nose. A method of joining the tubing ends without the disadvantages of a knot is described.

Humans↗

TFF peptides and mucins are major components of dacryoliths.

PURPOSE: The study was performed to determine whether trefoil factor peptides (TFF) and/or mucins are components of dacryoliths and to gain further insight into dacryolith composition and formation. METHODS: Twenty dacryoliths found in lacrimal surgery in patients suffering from primary acquired nasolacrimal duct obstruction were analyzed for the presence of TFF peptides (TFF1, 2, 3), mucins (MUC1, 2, 3, 4, 5AC, 5B, 6, 7, 8), defense cells (T- and B lymphocytes, macrophages, neutrophils), and antimicrobial substances (alpha defensins 1-3, secretory phospholipase A(2)) by means of light microscopy, histochemistry, immunohistochemistry, reverse transcription-polymerase chain reaction (RT-PCR) and real-time PCR. RESULTS: All dacryoliths except one revealed clear immunoreactivity for all three TFF peptides. The immunohistochemical distribution of mucins was inhomogeneous throughout the different dacryoliths. However, in some dacryoliths all mucins investigated were detected. MUC8 showed reactivity in 14 out of 15 dacryoliths analyzed by immunohistochemistry. Most dacryoliths contained alpha defensins 1-3 as the secretory product of neutrophils. T and B lymphocytes, macrophages and secretory phospholipase A(2) were only present in single dacryoliths. Quantification of TFF peptide expression supported the immunohistochemical finding that all three TFF peptides are augmented in dacryoliths. CONCLUSIONS: Dacryoliths consist partly of secreted mucins comparable with the mucin spectrum of the epithelium of healthy nasolacrimal ducts. Beside TFF1 and TFF3, both of which are produced under healthy circumstances, TFF2 is additionally induced and secreted in cases of dacryolithiasis. All three TFF peptides appear to be augmented in dacryoliths. With regard to their rheologic properties, TFF peptides may play a functional role in dacryolith formation. However, our results raise the question of whether TFF peptides per se influence dacryolith formation or whether their secretion, as in secretion of mucins and alpha defensins 1-3, is merely a secondary phenomenon.

Adult↗

Primary endoscopic dacryocystorhinostomy in children -- analysis of 18 patients.

OBJECTIVE: To describe the technique and results of primary endonasal endoscopic dacryocystorhinostomy in children with nasolacrimal duct blockage and review of literature with comparison of the results in adults. MATERIALS AND METHODS: A prospective study was carried out between the months of January 2002 to December 2004, which included 18 patients. Patients diagnosed as having only nasolacrimal duct obstruction were included in this study and an endonasal endoscopic procedure was performed. RESULTS: Eighteen children underwent endoscopic the DCR procedure. There were 5 males (27.7%) and 13 females (72.3%) with the maximum incidence between the age group of 4-7 years (age ranging from 10 months to 11.2 years). The follow up period ranged from 6 to 19 months average being 8.2 months. Relief of symptoms and endoscopic visualization of the patent stoma made into the lacrimal sac with sac syringing determined a successful outcome. Seventeen patients (94.4%) fulfilled the criteria. CONCLUSION: Our experience suggests that endonasal endoscopic DCR without stenting offers the same success rates for primary surgery over external DCR as have been established in adults. Moreover, it has an added advantage of shorter operative time, less morbidity and avoidance of stent related complications.

Child↗

Blockage of the lacrimal drainage apparatus as a side effect of docetaxel therapy.

BACKGROUND: The current study was conducted to report the severity and management of canalicular and nasolacrimal duct stenosis as a side effect of docetaxel therapy and to report the outcomes of surgical intervention for this condition. METHODS: The records of 148 patients with epiphora associated with docetaxel therapy who were evaluated at the Ophthalmology Service at The University of Texas M. D. Anderson Cancer Center were reviewed. The frequency of docetaxel administration, the dose intensity, the cumulative dose of docetaxel, and any concomitant chemotherapeutic agents were recorded. Each patient underwent an ophthalmologic examination and in-office probing and irrigation. The patients either were treated with topical steroids or offered a surgical procedure for canalicular stenosis- (silicone intubation, dacryocystorhinostomy [DCR] with the placement of silicone tubes, or DCR with the placement of Pyrex glass tubes), depending on the severity of the canalicular stenosis. RESULTS: Docetaxel was given weekly in 71 patients, every 2 weeks in 5 patients, and every 3 weeks in 72 patients. Thirty patients (59 eyes) who received weekly docetaxel underwent surgery to correct epiphora. Twenty-three patients (39 eyes) were treated with temporary silicone tube placement, 9 patients (13 eyes) were treated with DCR with temporary silicone tube placement, and 4 patients (7 eyes) were treated with DCR with permanent Pyrex glass tube placement. Twenty-nine of the 30 patients who underwent surgery reported improvement or total resolution of epiphora after the procedure. Ten additional patients (20 eyes) who received weekly docetaxel had complete closure of their canaliculi but elected not to undergo surgery. Of special note were two patients who received weekly docetaxel in the neoadjuvant setting and developed complete closure of the canaliculi. Of the patients who received docetaxel every 2 or 3 weeks, only 3 required a surgical intervention to correct epiphora; none required Pyrex glass tube placement. CONCLUSIONS: Canalicular and nasolacrimal duct obstruction is a common side effect of weekly docetaxel therapy and can occur even when this drug is used in the neoadjuvant setting. The results of the current study indicate that early temporary silicone intubation in symptomatic patients receiving weekly docetaxel can prevent further closure of the lacrimal drainage apparatus and obviate more involved surgical interventions and permanent Pyrex glass tube placement. Cancer 2003;98:504-7.

Adult↗

Anatomical guidelines for intranasal surgery of the lacrimal drainage system.

To facilitate identification of the nasolacrimal duct during intranasal surgery, we have determined the distances between the lacrimal drainage system and certain anatomical structures on the lateral wall of the nasal cavity. A total of 15 adult cadaver skulls were bisected mid-sagittally and evaluated morphometrically. In our specimens, the average distance from the natural ostium of the maxillary sinus to the nasolacrimal duct (NLD) was only 5.5 mm. This rather small distance should be taken into consideration, in order to prevent trauma of the NLD during surgical enlargement of the ostium of the maxillary sinus. The distances from NLD to the anterior surface of the bulla ethmoidalis, the free edge of the uncinate process and the attachment point of the middle turbinate on the lateral nasal wall were found to be 10.2 mm, 8.8 mm and 5.4 mm, respectively. Taking these distances into account, easy identification of the NLD during endonasal dacryocystorhinostomy surgery will be possible.

Adult↗

Systemic absorption pathways of topically applied beta adrenergic antagonists in the pigmented rabbit.

The objective of this study was to determine the influence of drug lipophilicity on extent of systemic absorption and relative contributions of the nasal and conjunctival mucosae to systemic absorption following topical solution instillation in the pigmented rabbit. Relatively hydrophilic atenolol, moderately lipophilic timolol and levobunolol, and lipophilic betaxolol were chosen as model drugs. Twenty-five microliters of a 15 mM drug solution in isotonic pH 7.4 buffer was instilled in each eye, with or without nasolacrimal occlusion, and plasma drug concentration was monitored using reversed phase HPLC. An equivalent amount of all four beta adrenergic antagonists was instilled directly into the nasolacrimal duct to assess the nasal contribution to systemic drug absorption following topical solution instillation. The systemic bioavailability ranged from 61% for atenolol to 100% for timolol. At least 50% of the systemically absorbed drug reached the bloodstream from the nasal mucosa; the nasal contribution was 83% for atenolol and 55-74% for the other three drugs. Occluding the nasolacrimal duct for 5 min reduced the extent of systemic absorption of timolol and levobunolol but did not do so for atenolol and betaxolol. Additional prolongation of solution retention in the conjunctival sac brought about further reduction for only atenolol (480-min prolongation) and timolol (120-min prolongation). Taken together, the above findings suggest that the systemic bioavailability of topically applied ophthalmic drugs would be modest for drugs at the extremes of lipophilicity and that the contribution of the nasal pathway to systemically absorbed drug diminishes with increasing drug lipophilicity.

Administration, Topical↗

Primary nasolacrymal tuberculosis diagnosed after dacryocytorhinostomy.

Although tuberculosis (TB) is common and well recognized in many countries, unusual presentations of the disease sometimes raise difficulties in differential diagnosis. Primary tuberculosis of the lacrimal sac and the nasolacrimal duct is an extremely rare presentation of extra-pulmonary tuberculosis. Dacryocystorhinostomy alone is not sufficient for the treatment of these patients and an anti-tuberculous therapy has to be added. Here we present a patient with primary tuberculosis, which is limited to the inferior meatus and filled the entire lacrimal sac on the left side. The patient underwent endoscopic dacryocystorhinostomy due to obstruction of the nasolacrimal duct and culture of the granulation tissue, taken from the lacrimal sac revealed mycobacterial tuberculosis. The patient was improved with anti-tuberculous therapy that was added to the surgery. Primary tuberculosis is a rare granulomatous disease of the nasolacrimal system, which should be considered in the differential diagnosis to plan the effective treatment.

Antitubercular Agents↗

Lacrimal drainage system endoscopic examination and surgery through the lacrimal punctum.

BACKGROUND: To describe an approach to restore the physiological tear passages of an obstructed lacrimal drainage system with instruments introduced through one of the lacrimal punctum. METHOD: In a first step a miniature endoscope (Ø: 0.9, 1.1, 1.3 mm) is introduced in one of the lacrimal punctum to visualize the level, the extent, and the nature of an obstruction along the lacrimal drainage system. In a second step, the miniature endoscope is replaced by a lacrimal trephine (Ø: 0.9, 1.1, 1.3 mm) that holds an optic fiber in its lumen, and the obstruction is removed under endoscopic visual control. The entire procedure is performed under local anesthesia. RESULTS: With this approach it is possible to visualize and remove partial or total fibrous obstructions along the lacrimal drainage system (lacrimal canaliculus, nasolacrimal duct). Lacrimal sac lithiasis can also be fragmented and eliminate in the nose through the nasolacrimal duct. During or after the procedure only minor, and no major, complications can sometime occur, such as hematoma or edema (after lacrimal irrigation) of the surrounding soft tissues. CONCLUSION: The approach described here is straight forward, quick, and can be performed under visual endoscopic control and in local anesthesia. With this approach partial stenosis can easily be diagnosed and cured. This procedure might potentially change our current concepts regarding surgical indications for obstructive epiphora and dacryocystitis. However, the long-term results of this type of surgery need to be challenged.

Dacryocystorhinostomy↗

Mucocele in an orbitoethmoidal (Haller's) cell (accidentally combined with acute contralateral dacryocystitis).

Haller's cells--according to recent terminology now called orbitoethmoidal cells (OEC)--are defined as anterior or posterior ethmoidal cells that have developed into the orbital floor. They can be excessively pneumatized and thus contribute to obstruction of the ostiomeatal complex area. We present the case of a 42 year old white male, who was admitted for treatment of an acute dacryocystitis on the right side. The CT scan revealed moderate sinusitis of the right ethmoid and maxillary sinuses and coincidentally a mucocele in an OEC on the left side. An endoscopic dacryocystorhinostomy on the right and a revision of the mucocele on the left side were performed in the same sitting. We consider both indications--stenosis of the nasolacrimal duct as well as mucoceles rewarding indications for endoscopic surgery. An external approach to the nasolacrimal duct in this case would have been problematic, as the external skin and soft tissue covering the duct already showed severe inflammatory changes. The operation of the up until that time asymptomatic mucocele was of prophylactic character. To our knowledge this is the first report of a mucocele developing in an OEC in the literature.

Acute Disease↗

Functional anatomy of human lacrimal duct epithelium.

Resorption of tear fluid in the lacrimal ducts has hitherto been controversial; one reason for this has been insufficient knowledge of the anatomical structure and function of the lacrimal duct epithelium. The present study analyzes the structure of lacrimal duct epithelium by means of histological, histochemical, immunohistochemical and electronmicroscopical methods and draws a conclusion about its physiological function regarding its role in immunodeficiency. Investigations were performed on 31 lacrimal systems of 17 male and 14 female individuals (aged 54-88 years). Lacrimal ducts are surrounded by a wide-ranging cavernous system, which is embedded in an osseous canal between the maxilla and the lacrimal bone. The internal wall of the lacrimal canaliculi is lined by a stratified epithelium. The lacrimal sac and nasolacrimal duct contain a double-layered epithelium, which rests on a broad basement membrane. In their apical part epithelial cells contain large lipid droplets and secretory vacuoles. Epithelial cells are faced by microvilli and some tufts of kinociliae are also visible. Goblet cells are integrated in the epithelium as solitary cells or in a characteristic arrangement of several cells. The secretory product of these cells contains carbohydrates including fucose and sialic acid. Inside the surrounding cavernous system serous glands are found that open their excretory ducts into the lacrimal sac and nasolacrimal duct. Some T- and B-lymphocytes and macrophages may be demonstrated immunohistochemically in the submucosa partly penetrating the epithelium. Synthesized mucins of goblet cells form a specialized protective layer on the epithelium of the lacrimal ducts, which functionally serves for a simplified drainage of tear fluid into the inferior meatus of the nose. Together with immunocompetent cells, the protective layer plays a role in antigen defense and prevents invasion of pathogenic agents. The facing of epithelial cells by microvilli gives hints of re-absorption of lacrimal fluid inside the lacrimal ducts.

Aged↗