Tränenwegstumoren sind selten, aber potenziell lebensbedrohlich. Ziel war es, die Anwendbarkeit der selektiven Tränensackbiopsie bei 500 externen Dakryozystorhinostomien von Patienten mit erworbener Tränenwegsstenose zu untersuchen.

An 8-year-old boy presented with a 6-week history of a rapidly progressive erythematous swelling of the right upper eyelid. Ultrasonography and magnetic resonance imaging revealed a subcutaneous nodular mass of the right upper eyelid medially with extension into the anterior orbit. The clinical differential diagnosis included rhabdomyosarcoma. A transcutaneous excisional biopsy was performed, and histopathologic examination confirmed the diagnosis of nodular fasciitis. Five years after surgery, there is no evidence of local recurrence, and the result is aesthetically satisfactory.

Eine 68-jährige Patientin stellte sich mit seit 10 Monaten bestehender rechtsseitiger Epiphora, blutiger Sekretion und Schwellung im Bereich des Tränensacks vor. Im CT zeigte sich eine weichteildichte Raumforderung des rechten Tränensacks mit Erweiterung des knöchernen Ductus nasolacrimalis. Durch externe Dakryozystorhinostomie mit inzisionaler Biopsie konnte die Diagnose eines malignen Melanoms gestellt werden. Nach dem Staging erfolgte die weitere Therapie mit Exenteratio orbitae, lateraler Rhinotomie, En-Bloc-Resektion der Tränenwege und adjuvanter Radioimmuntherapie. Ein Jahr postoperativ ist die Patientin rezidiv- und metastasenfrei.

A 68-year-old woman presented with a 10-month history of right-sided epiphora, bloody tears, and medial canthal mass. Computed tomography revealed a soft tissue mass of the right lacrimal sac with widening of the bony nasolacrimal canal. External dacryocystorhinostomy with incisional biopsy confirmed the diagnosis of malignant melanoma. After staging, further therapy included orbital exenteration, lateral rhinotomy with en bloc resection of the lacrimal drainage apparatus, and adjuvant radioimmunotherapy. One year after surgery, no evidence of local recurrence or metastatic disease could be detected.

This case report describes a 37-year-old man with a blind eye with opaque media. Histopathology revealed an aggressive adenocarcinoma of the retinal pigment epithelium with marked invasion of the choroid, retina, sclera and—not previously reported—the orbital and cranial optic nerve and subarachnoid space. The tumour seeded into the lumbar spinal-cord space. Metastatic foci—not in continuity with the primary process—developed in the parietal lobe and cerebellopontine angle. Adenocarcinoma of the retinal pigment epithelium, which occurs rarely in longstanding blind eyes, may exhibit aggressive behaviour with life-threatening risk of metastatic spread.

In the case of displacement of the globe such as enophthalmos induced by trauma, the patient is affected on both counts: function and aesthetics. To prevent double vision or conspicuous asymmetry, exact correction of the globe position is required. The aim of this case report is to demonstrate an intraoperative computer-assisted, non-contact, optical 3D procedure for identification of the globe position to aid in placing the eyeball in the position required in complex reconstruction of the orbital floor. A 33-year-old man presented with a sunken eye on the right side in the horizontal and vertical plane 6 months after having undergone surgery elsewhere for a zygomatico-orbital fracture, also including the orbital floor. The patient was affected by double vision and a noticeable defective globe position. In planning the correction of the globe position, a three-dimensional image of the face with opened eyes was made with the optical sensor. Automatic comparison of symmetry revealed enophthalmos of 4 mm on relative en- and exophthalmometry. The decision was made to lift the orbital floor with a split calvarial bone graft. During surgery the position of the globe was also controlled by the three-dimensional optical technique. At the end of surgery there was exophthalmos of 1 mm. Six weeks after surgery the patient was not affected by any double vision. After 3 and 24 months enophthalmos was 1 mm. This case demonstrates how the non-ionizing, non-contact, optical 3D technique can help in planning, intraoperative transformation, and clinical monitoring to identify the correct position of the corneal vertex in complex orbital floor reconstruction.

Traumatisch bedingte Fehlstellungen des Augapfels wie Enophthalmus und Bulbustiefstand beeinträchtigen den Patienten in Bezug auf Funktion und Ästhetik. Die exakte Einstellung der Bulbusposition ist Voraussetzung für ein doppelbildfreies Sehen und ein unauffälliges Erscheinungsbild der Augenpartie. Es ist das Ziel des Fallberichtes zu zeigen, wie ein computerassistiertes, nicht ionisierendes, berührungsfreies, intraoperativ anwendbares, optisches 3D-Verfahren zur Bestimmung der Bulbuslage die Einstellung des Augapfels in die gewünschte Position bei komplexen Orbitarekonstruktionen unterstützt. Ein 33-jähriger Mann stellte sich vor, weil der rechte Augapfel zusehends in die Augenhöhle zurücksank. Sechs Monate zuvor wurde alio loco eine rechtsseitige zentrolaterale Mittelgesichtsfraktur mit Orbitabodenbeteiligung versorgt. Das konsekutiv aufgetretene Doppelbildsehen und die auffällige Fehlstellung des rechten Auges beeinträchtigten den Patienten. Zur Planung der Korrektur der Position des rechten Bulbus wurde zunächst ein 3-dimensionales Bild der Gesichtsoberfläche bei geöffneten Augen mit einem optischen Sensor erstellt. In einem automatisierten Symmetrievergleich ergab sich für die relative En- und Exophthalmometrie ein rechtsseitiger Enophthalmus von 4 mm. Es wurde die Entscheidung getroffen, den rechten Orbitaboden mit einem Schädelkalottentransplantat anzuheben. Intraoperativ erfolgte die Kontrolle der Bulbusposition ebenfalls mit dem optischen 3D-Verfahren. Am Ende des Eingriffs ergab sich in der relativen En- und Exophthalmometrie ein Exophthalmus von 1 mm auf der rechten Seite. Sechs Wochen postoperativ beklagte der Patient keine Doppelbilder mehr. Nach 3 und nach 24 Monaten bestand rechts ein Enophthalmus von 1 mm. Der Fallbericht verdeutlicht, wie das computerassistierte, nicht ionisierende, berührungsfreie, optische 3D-Verfahren Planung, intraoperative Umsetzung und Verlaufskontrolle bei der Korrektur der Bulbusposition unterstützen und so als hilfreiches Werkzeug bei komplexen Rekonstruktionen der Orbita dienen kann.

BACKGROUND:Sebaceous gland carcinomas represent rare malignancies of the skin and some 60% of them demonstrate high-grade microsatellite instability on the background of a defective mismatch repair system. However, a significant fraction of periocular sebaceous gland carcinomas exhibits microsatellite stability associated with a frequent loss of the candidate tumour suppressor fragile histidine triad (FHIT).OBJECTIVES:We hypothesized that in those sebaceous gland carcinomas with microsatellite stability and loss of FHIT, effector molecules participating in homologous recombination repair (HRR), such as BRCA1/2, could be somatically inactivated.METHODS:A pilot series of 10 paraffin-embedded sebaceous gland carcinoma specimens with a defined FHIT status was studied for loss of heterozygosity (LOH) events in the genes BRCA1, BRCA2, FHIT and WWOX. We sequenced the coding exons 5-8 of the p53 gene.RESULTS:Sebaceous gland carcinomas with FHIT negativity displayed LOH and biallelic deletions of the BRCA1 gene in five of 10 (50%) of the sebaceous gland carcinoma specimens analysed. Tumour-specific genomic losses close to BRCA2 were also uncovered. A homozygous p53 R248W gain-of-function mutation as the result of a CGG to TGG transition was identified in one of seven sebaceous gland carcinomas. It has been demonstrated previously that p53 R248W mutants inactivate ATM-directed HRR. This particular sebaceous gland carcinoma presented with concomitant genomic deletions at the BRCA1 and BRCA2 loci, and also at the constitutively fragile sites FRA3B/FHIT and FRA16D/WWOX.CONCLUSIONS:Our study demonstrates for the first time that microsatellite-stable FHIT-negative sebaceous gland carcinomas accumulate mutations that target central components of the HRR network. This observation will prompt investigations in synthetic lethality of BRCA-deficient sebaceous gland carcinomas by therapeutic poly(ADP-ribose) polymerase inhibitors.

The diagnostic classification of most conjunctival tumors is based on case history, inspection, and examination with the slit lamp microscope. Further imaging procedures are rarely indicated when malignant processes are not circumscribed. Clinical classification then also includes palpation and echographic examination of regional lymph nodes. Pigmented and nonpigmented melanocytic nevi are the most frequent conjunctival tumors. An important practical biomicroscopic cardinal symptom of the most frequent nevi is the presence of epithelial pseudocysts. Essential in practice is the histopathological confirmation of the clinical diagnosis, e.g., distinguishing between nonpigmented melanomas and sebaceous gland carcinomas with a pagetoid growth pattern or squamous cell carcinomas. Depending on the course and findings, the following therapeutic measures can be indicated: cryotherapy, chemotherapy, radiotherapy, modified enucleation, orbital exenteration, or a combination of different methods.

Periocular sebaceous gland carcinomas (SGCs) occur in the eyelids either sporadically or as a phenotypic feature of Muir-Torre syndrome (MTS). In knockout mice mismatch-repair (MMR) defects or inactivation of the fragile histidine triad (FHIT) gene are associated with MTS-like signs, including SGC. To dissect the genetic alterations associated with microsatellite instability (MSI) and inactivation of the FHIT gene, we studied nine periocular SGC specimens from MTS patients. Immunohistochemistry was performed for FHIT, MSH2, MLH1, and MSH6. We assessed MSI as well as loss of heterozygosity (LOH) at the FHIT locus with polymorphic markers and genomic multiplex PCR. Epigenetic silencing was detected by methylation-specific PCR (MSP) and combined bisulfite restriction analysis (COBRA). Our analyses identified two SGCs with FHIT positivity and high-grade MSI, and seven cases with loss of FHIT and microsatellite stability (MSS). MSI correlated with loss of MSH2 and MLH1 immunostaining. Loss-of-function mechanisms affecting the FHIT gene were identified as intragenic deletions eliminating the coding exons 5 and 6 on one hand, and complete biallelic methylation of the FHIT transcription regulatory region on the other hand. Germinal FHIT mutations as a predisposing factor for MTS were excluded in two index patients with cancer in three generations, including an FHIT-negative SGC. Our data suggest that either somatic inactivation of the FHIT gene associated with MSS or inactivation of the MMR system resulting in MSI contribute to the development of periocular SGCs in presumptive MTS.

Ziel sind Erfassung von Diagnosen und Therapieprinzipien bei Patienten mit orbitalen Prozessen. Durch retrospektive Untersuchung konsekutiver Patienten der Orbitasprechstunde wurden die Ergebnisse nach exzisionaler und inzisionaler Biopsie über vordere und laterale Orbitotomie ausgewertet. Von insgesamt 223 Patienten erfolgte bei 185 der chirurgische Zugangsweg über eine vordere Orbitotomie (transkutan und transseptal, extraperiosteal oder transkonjunktival), bei 25 Patienten durch laterale transossäre Orbitotomie, bei 13 Patienten durch Exenteratio orbitae. Bei 155 Patienten war die Biopsie exzisional, bei 68 inzisional. Inzisionale Biopsien waren meistens kombiniert mit einer weitestmöglichen chirurgischen Tumorvolumenreduktion. Es folgten in der Regel systemische Chemotherapie u./o. Radiatio. Ausgewählte Beispiele werden demonstriert. Schlussfolgernd lieferten klinischer Verlauf, Untersuchung und gezielte präoperative Bildgebung eine sehr gute Arbeitsdiagnose als vorbereitende Maßnahme für die Planung des operativen Eingriffes. Prognostisch signifikante Parameter waren die vollständige chirurgische Exzision bei einigen expansiven Prozessen und das Ergebnis der histopathologischen Untersuchung sowohl bei expansiv als auch infiltrierend wachsenden Veränderungen. Die erfolgreiche Behandlung der meisten orbitalen Veränderungen war durch vordere oder laterale Orbitotomie möglich. In ausgewählten Situationen kann ein endonasaler oder transkranialer Zugang hilfreich sein.

BACKGROUND:Extensive exposure to ultraviolet radiation is associated with genetic alterations in basal cell carcinomas (BCCs), which represent some 75% of skin cancers.OBJECTIVES:As recent data suggested the fragile histidine triad (FHIT) gene product to participate in DNA damage responses we wished to address whether functional deletion of this tumour suppressor participates in the development of BCC. Our study focused on epigenetic inactivation of the FHIT gene.METHODS:Paraffin-embedded specimens from 17 patients with BCC were available for methylation-specific polymerase chain reaction (MSP), combined bisulphite-dependent restriction analysis (COBRA) of the FHIT gene and immunohistochemistry of its product.RESULTS:We report for the first time that 100% of BCCs are negative for FHIT by immunostaining. Aberrant methylation of the FHIT promoter occurred in a significant portion of BCCs. MSP detected hypermethylation of the FHIT/FRA3B locus in nine of nine (100%) periocular BCCs and in six of eight (75%) BCCs from other body regions. COBRA yielded similar results, confirming that some 88% of the 17 BCCs analysed harbour epigenetic silencing of the FHIT gene. Loss of FHIT protein was demonstrated immunohistochemically, confirming that promoter hypermethylation correlated with loss of gene expression.CONCLUSIONS:We have identified epigenetic silencing of the FHIT tumour suppressor gene as a frequent inactivation mechanism which is likely to contribute to functional deficiencies in DNA damage response of BCCs.

Hintergrund: Maligne Lidprozesse sind die häufigsten Malignome in der augenärztlichen Praxis. Ziel ist eine Übersicht über differentialdiagnostische Leitlinien und Therapieprinzipien.

Objective: To investigate histopathologic alterations of eyelid biopsy specimens from patients with floppy eyelid syndrome (FES) with special regard to elastic fiber content and ultrastructure as well as to the expression of elastin-degrading enzymes to elucidate the pathogenesis of this disorder.Design: Retrospective, interventional case series.Participants and Controls: Eleven consecutive patients with FES and 10 age-matched control patients with basal cell carcinoma of the eyelid.Methods: Horizontal pentagonal eyelid resections of 16 upper lids were performed in 11 patients with FES. Full-thickness eyelid biopsy specimens from study and control patients were examined by light and transmission electron microscopy, semiquantitative morphometry, and immunohistochemistry using antibodies against matrix metalloproteinase (MMP)-2, MMP-7, MMP-9, and MMP-12 and neutrophil elastase.Results: All patients treated with surgical horizontal eyelid shortening were asymptomatic at follow-up. Histopathologic analysis of the surgical specimens showed, apart from unspecific signs of chronic inflammation, a significant decrease in the amount of elastin within the tarsal plate and eyelid skin as compared with controls. Residual elastic fibers revealed an abnormal ultrastructure with a diminished elastin core. lmmunohistochemistry demonstrated an increased immunoreactivity for elastolytic proteases, particularly MMP-7 and MMP-9, in areas of elastin depletion in FES specimens as compared with controls.Conclusions: The findings indicate that upregulation of elastolytic enzymes, most probably induced by repeated mechanical stress, participates in elastic fiber degradation and subsequent tarsal laxity and eyelash ptosis in FES. Ophthalmology 2005; 112:694-704 0 2005 by the American Academy of Ophthalmology.

Silent sinus syndrome (SSS) is a rare disease exhibiting unilateral enophthalmos and hypoglobus. A 26-year-old white female presented with right side enophthalmos and hypoglobus. There was no history of previous trauma or maxillary sinus diseases. A CT scan showed an opacified right maxillary antrum with decreased volume and downward bowing of the right orbital floor. From clinical and radiological findings the diagnosis SSS was made. Biopsies were collected from the maxillary sinus for the exclusion of malignancy. Two months later orbital floor reconstruction was carried out. Before antrostomy of the affected maxillary sinus, a relative enophthalmos of 4mm was determined. Five days after antrostomy the value reduced to 2.3mm. During the following 2 months the enophthalmos remained constant. At the end of the operation for orbital floor reconstruction it was 0.1mm. Five days after surgery the relative enophthalmos increased to 0.8mm. The value remained constant during the following 3 months. Initial antrostomy of the affected maxillary sinus may lead to a relevant, spontaneous reduction of enophthalmos. After a minimum period of 2 months a re-evaluation should be made, if a reconstruction of the orbital floor is still necessary for the correction of the globe position.

Hintergrund und Ziel: Die Blepharoplastik gehört zu den häufigsten Lidoperationen. Im Beitrag werden Blepharoplastik-Techniken mit Skalpell und Laser demonstriert.

AIM:To assess recurrence of primary basal cell carcinoma (PBCC) including the eyelid margins after resection with or without intraoperative frozen section control (IFS).METHODS:Comparative non-randomised interventional study involving review of records of consecutive patients with histological diagnosis of PBCC including the eyelid margins, treated surgically at the University of Erlangen-Nürnberg between 1989 and 1998. Patients with a minimum clinical follow up of 5 years treated with (group I) or without (group II) IFS were compared. Postoperatively, permanent paraffin sections were available in all patients.RESULTS:165 patients were available for study. There were 145 patients with a minimum of 5 years follow up. Of these, no tumour recurrences were observed in group I (n = 114) compared with three (9.7%) in group II (n = 31) (p = 0.002).CONCLUSIONS:Surgery for PBCC including the eyelid margins with IFS and immediate plastic reconstruction, as performed in the present study, is associated with better long term cure compared with surgery with clinical control.

Ziel: Ermittlung der Rezidivraten primärer Basaliome mit Lidrandbeteiligung (PBL) nach Resektion mit oder ohne intraoperative Schnellschnittkontrolle (ISK).

It has been the aim of the present study, to introduce the combination of computed tomography and optical 3D imaging to exophthalmometry and to compare the resulting data to the classic Hertel method. Twenty patients without orbital pathology and 12 patients were included in the study, who were subjected to a preoperative computed tomography. Optical 3D images of the facial surface were assessed and Hertel exophthalmometry was carried out to determine protrusion. In patients with zygomatic fractures the assessment of optical 3D images and Hertel values was repeated 5 days after surgery. Preoperative axial CT slices and postoperative optical contours through the globes were superimposed and the change in protrusion was determined. The protrusion values assessed either by CT, Hertel exophthalmometry or optical 3D imaging for patients without orbital pathology did not show any statistically significant differences between each other. For zygomatic fractures, Hertel exophthalmometry revealed more pronounced protrusion data in four of five cases of a posterolaterally dislocated lateral orbital rim and a higher degree of enophthalmos in cases without dislocation of the lateral orbital rim than it could be proved in the CT slices. The differences between optical measurements and CT data were minimal in patients with zygomatic fractures. The combination of computed tomography as baseline measurement and optical 3D imaging for the follow-up examinations reveal more realistic data in cases of zygomatic fractures than Hertel measurements and should be preferred.