Anterior segment swept-source optical coherence tomography and ultrasound biomicroscopy in iris and ciliary body lesions.

OBJECTIVES: Differentiation of iris and ciliary body lesions as benign or malignant and cystic or solid is important. The aim of this study was to compare anterior segment swept-source optical coherence tomography (AS SS-OCT) and ultrasound biomicroscopy (UBM) findings in iris and ciliary body tumors. RESEARCH DESIGN AND METHODS: Forty-two eyes of 38 cases with iris and ciliary body tumors imaged with UBM and AS SS-OCT between September 2018 and September 2023 were evaluated retrospectively. RESULTS: Of 42 eyes, 14 had melanoma, 14 iris pigment epithelial (IPE) cysts, 7 nevi, 3 Lisch nodules, 2 iris stromal cysts, 1 pars plana cysts, and 1 iris mammillations. An equivalent (100%) visualization of the anterior tumor margin was obtained with both techniques. Compared to AS SS-OCT, UBM was superior for posterior margin visualization in melanocytic tumors and IPE cysts. Bland-Altman plots demonstrated good agreement between UBM and AS SS-OCT for melanocytic tumors < 2.5 mm in base diameter and < 2 mm in thickness. CONCLUSIONS: Although, UBM is the gold standard for ciliary body and iridociliary tumors. AS SS-OCT should be considered as an excellent alternative to UBM, especially in minimally elevated iris lesions.

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY): A case report with surgical and neuropathological differential diagnosis.

BACKGROUND: Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a rare entity of low-grade neuroepithelial tumors that primarily affects children and young adults. This distinct type of tumor presents unique challenges in diagnosis and management. With its relatively recent identification, researchers and clinicians are striving to understand the characteristics, behavior, and optimal treatment strategies. The symptoms are primarily related to seizures. However, PLNTY can be asymptomatic in some cases. MATERIALS AND METHODS: This is a single-center case report study and a literature review paper. We reviewed a case treated and diagnosed at the Ankara University Faculty of Medicine, Department of Neurosurgery. The demographic data, clinical follow-ups, laboratory, and radiological data of the patients were assessed. RESULTS: We present a 32-year-old male patient who has undergone gross total surgical excision with strict clinical follow-up. Clinical course as well as surgical data of the patient were observed and analyzed. CONCLUSION: On imaging, morphologic resembling and indistinctive clinical course can be nonspecific, contributing to diagnostic uncertainties. This case report was written with the notion that rare diagnoses present an opportunity to understand the progression and patho-oncological factors that can pave the way for better treatment.

Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate.

ABSTRACT: Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal congenital genetic disorder characterized by painful blistering of the skin and mucous membranes in response to minor trauma or pressure. JEB is classified roughly into 2 subtypes: JEB-Herlitz is caused by mutations on genes encoding laminin-332. The authors present a patient consulted with a suspicion of primary immunodeficiency due to skin sores that started at the age of 1 month and a history of 3 siblings who died with similar sores, who was diagnosed with JEB-Herlitz after detecting a homozygous LAMC2 gene mutation in WES analysis. Microscopic evaluation of hematoxylin and eosin-stained sections showed vesicle formation with subepidermal separation, which is accompanied by striking neutrophil and eosinophil leukocyte infiltration both in the vesicle and papillary dermis (eosinophil-rich inflammatory infiltrate). Such a histopathological finding has been rarely reported in this condition.

A patient with widespread skin lesions presenting with massive pleural effusion.

Mycosis fungoides is the most commonly seen type of cutaneous T-cell lymphoproliferative disease. While mycosis fungoides is linked to an increased risk of developing secondary malignancies, the occurrence of B-cell-originated disease in association with it is exceedingly rare. A 66-year-old male with persistent papillomatous skin eruption was admitted due to dyspnea. Chest X-ray, positron emission tomography, and chest computed tomography revealed axillary and mediastinal lymph node enlargement and right lower pulmonary lobe infiltration along with right-sided massive pleural effusion. Histological and immunohistochemical findings of pleural biopsy and axillary lymph nodes suggested a diagnosis of pulmonary extranodal marginal zone lymphoma. Skin biopsies from the abdomen, chest, and legs revealed CD4/CD8 double-positive patch stage of mycosis fungoides. After completing six cycles of chemotherapy, complete remission of lymphoma was achieved, with the skin eruptions remaining unchanged. Herein, the authors present a unique case of concomitant diagnoses of mycosis fungoides and marginal zone B-cell lymphoma of the respiratory system to emphasize the importance of careful evaluation of each finding.

Bilateral Corneal Panni Associated with Limbal Inclusion Cysts in the Left Eye in a Patient with Atopic Keratoconjunctivitis.

PURPOSE: To report a rare case of atopic keratoconjunctivitis (AKC) presenting with bilateral corneal panni associated with limbal inclusion cysts in the left eye. MATERIALS & METHODS: Retrospective case report. RESULTS: A 19-year-old female with AKC presented with bilateral corneal panni and limbal inclusion cysts in the left eye. Anterior segment swept-source optical coherence tomography showed bilateral hyperreflective epicorneal membrane and a lobulated cystic lesion in the left eye. Ultrasound biomicroscopy demonstrated a dense membrane overriding the cornea in both eyes and hyporeflective spaces separated by medium reflective septa in the cyst. The patient underwent excision of the limbal inclusion cyst and pannus in the left eye. Histopathological examination revealed subepithelial cystic lesion surrounded by non-keratinizing epithelium; areas of acanthosis, hyperkeratosis, parakeratosis, and hyperplasia in the epithelium of the pannus; as well as inflammation, fibrosis, and increase in vascularization in the stroma. CONCLUSION: To our knowledge, this is the first case of corneal pannus associated with limbal inclusion cysts in AKC. Surgical excision was done to establish the diagnosis as well as to improve vision in our case.

Combined tumour of aberrant cytokeratin expressing acral lentiginous melanoma and poroma: Diagnostic challenge.

Combined tumours are uncommon and therefore these tumours may pose a diagnostic challenge. In the current case report, it is aimed to present the clinicopathological features of a combined tumour including melanoma with aberrant cytokeratin expression and poroma.

Integrated diagnosis of nevi with severely atypical features and impact of second opinions.

BACKGROUND: A subset of melanocytic proliferations is difficult to classify by dermatopathology alone and their management is challenging. OBJECTIVE: To explore the value of correlation with dermatoscopy and to evaluate the utility of second opinions by additional pathologists. METHODS: For this single center retrospective study we collected 122 lesions that were diagnosed as atypical melanocytic proliferations, we reviewed dermatoscopy and asked two experienced pathologists to reassess the slides independently. RESULTS: For the binary decision of nevus versus melanoma the diagnostic consensus among external pathologists was only moderate (kappa 0.43; 95% CI 0.25-0.61). If ground truth were defined such that both pathologists had to agree on the diagnosis of melanoma, 13.1% of cases would have been diagnosed as melanoma. If one pathologist were sufficient to call it melanoma 29.5% of cases would have been diagnosed as melanoma. In either case, the presence of dermatoscopic white lines was associated with the diagnosis of melanoma. In lesions with peripheral dots and clods, melanoma was not jointly diagnosed by the two pathologists if the patient was younger than 45 years. CONCLUSIONS: A considerable number of atypical melanocytic proliferations may be diagnosed as melanoma if revised by other pathologists. The presence of white lines on dermatoscopy increases the likelihood of revision towards melanoma. Peripheral clods indicate growth but are not a melanoma clue if patients are younger than 45 years.

Anterior segment optical coherence tomography in ocular surface tumours and simulating lesions.

This study aims to systematically review the reported literature on the use of anterior segment optical coherence tomography (AS-OCT) in ocular surface tumours and simulating lesions. A systematic literature search was done using PubMed, Scopus, and Web of Science databases between January 2002 and December 2021. On AS-OCT, ocular surface squamous neoplasia typically demonstrate epithelial thickening, epithelial hyperreflectivity, and an abrupt transition between normal and abnormal epithelium. Conjunctival nevi usually show mildly hyperreflective epithelium of normal thickness, internal hyperreflectivity, and intralesional cysts which is the hallmark of this tumour. Primary acquired melanosis presents with normal thickness epithelium, basal epithelial hyperreflectivity, and absence of cysts. Conjunctival melanoma demonstrates hyperreflective normal/thickened epithelium, hyperreflective basal epithelium, internal hyperreflectivity, and absence of intralesional cysts. Conjunctival lymphoma shows homogenous, low-medium reflective subepithelial lesions with smooth borders, and dot-like infiltrates. Benign reactive lymphoid hyperplasia findings are similar to lymphoma but the infiltrates are more hyperreflective compared to lymphoma. Pterygium shows thickened conjunctival epithelium, epithelial hyperreflectivity, and subepithelial wedge-shaped hyperreflective tissue separated from the overlying epithelium by a cleavage plane. Pinguecula demonstrates mildly thickened epithelium and similar findings with pterygium but does not extend beyond the corneal limbus. This review shows that AS-OCT, as a noninvasive tool, has potential uses in the differential diagnosis of ocular surface tumours and simulating lesions. Major limitations of AS-OCT include limited visualization of the posterior border of thick, keratinized, and pigmented tumours and lack of assessment of large conjunctival tumours in a single cut.

Postauricular linear basal cell carcinomas related to medical mask cords: a possible association.

Linear basal cell carcinoma (BCC) is a distinct clinical morphological variant of BCC. Although it has been speculated that trauma and the Koebner phenomenon may be linked to linear BCC, the pathophysiology has not yet been shown. Herein, 5 cases of BCC were presented that developed in the postauricular region as a result of trauma caused by the cords of the medical face masks worn during the COVID-19 pandemic.

Dermatoscopic features of Spitz naevi on acral volar skin: Report of 11 cases.

Spitzoid melanocytic lesions characterized by spindle and/or epithelioid tumour cells can occur anywhere on the skin but the acral presentation of Spitz naevus is very rare and comprises about <4% of all Spitz naevi. However, data regarding their dermatoscopic features on the acral volar skin are scarce. Herein, 11 cases of acral Spitz naevus involving the glabrous skin with predominant dermatoscopic findings of atypical fibrillar pattern in non-pressure bearing areas, a structureless pigmentation involving both the furrows and the ridges are presented.

Morphology of the trigeminal ganglion: anatomical structures related to trigeminal radiofrequency rhizotomy.

BACKGROUND: Trigeminal neuralgia is the most common example of craniofacial neuralgia. Its etiology is unknown and is characterized by severe episodes of paroxysmal pain. The trigeminal ganglion and its adjacent anatomical structures have a complex anatomy. The foramen ovale is of great importance during surgical procedures such as percutaneous trigeminal rhizotomy for trigeminal neuralgia. OBJECTIVE: We aimed to identify the anatomical structures associated with the trigeminal ganglion and radiofrequency rhizotomy on cadavers and investigate their relationship with the electrodes used during rhizotomy to determine the contribution of the electrode diameter and length to the effectiveness of the lesion formation on the ganglion. METHODS: Five fresh-frozen cadaver heads injected with red silicone/latex were used. A percutaneous puncture was made by inserting of a cannula through the foramen ovale to create a pathway for electrodes. The relationships between the electrodes, Meckel's cave, trigeminal ganglion, and neurovascular structures were observed and morphometric measurements were obtained using a digital caliper. RESULTS: Trigeminal ganglion, therefore the electrode in its final position, shows proximity with important anatomical structures. The electrode was inserted posteriorly into the foramen ovale in all of the specimens and was located on the retrogasserian fibers. This study revealed that the electrodes targeting the ganglion and passing through the foramen ovale may cause a radiofrequency lesion due to the contact effect of the dura itself pressing on the electrode. Pushing the cannula beyond the petroclival angle may result in puncturing of the dura propria and moving further away from the target area. CONCLUSION: The success of radiofrequency rhizotomy is directly related to the area affected by the lesion. Understanding the mechanism of action underlying this procedure will ensure the effectiveness, success, and sustainability of the treatment.

Partial lamellar sclerouvectomy surgery for anteriorly located uveal tumour resection: a 20-year experience.

OBJECTIVES: To investigate the results of partial lamellar sclerouvectomy (PLSU) for anteriorly located uveal tumours. METHODS: We reviewed the tumour features, histopathologic findings, complications, visual acuity outcomes, eye preservation, metastasis, and mortality data of 56 cases with uveal tumours who underwent PLSU between February 1999 and February 2019. RESULTS: The mean largest tumour base diameters were 5.8 × 3.4 mm and the mean tumour thickness was 3.3 mm. Histopathologically, 30 (53.6%) eyes had malignant melanoma, 13 (23.2%) had nevus, 5 (8.9%) had iris stromal cyst, 4 (7.1%) had melanocytoma, 2 (3.6%) had Fuchs' adenoma, 1 (1.8%) had iris pigment epithelial cyst, and 1 (1.8%) had invasive breast cancer metastasis. The most common postoperative complications included cataract in 21 (37.5%) eyes, vitreous haemorrhage in 15 (26.8%), scleral thinning in 10 (17.9%), and hyphema in 6 (10.7%). At a mean follow-up of 40.4 (range: 10-201) months, tumour recurrence was observed in 2/30 (6.7%) eyes with melanoma and 1/5 (20.0%) eye with iris stromal cyst. Eyes with recurrent melanoma were treated with enucleation. Liver metastasis developed in only 1 (3.3%) melanoma case. All patients were alive at the end of follow-up. CONCLUSIONS: PLSU is a successful treatment method for many anteriorly located uveal tumours. In our series, the overall tumour recurrence and globe salvage rates were 5.4% and 96.4% respectively. Among melanoma cases, the metastasis rate was 3.3% and survival rate was 100%.

Conjunctival pyogenic granuloma during pregnancy / Granuloma piogênico conjuntival durante a gravidez

ABSTRACT Pyogenic granuloma is a common benign, vascular lesion of the skin and mucosa. Our case was a 34-year-old woman at 28 weeks of gestation. She presented with a complaint of a growing and occasionally bleeding mass on the left lower eyelid conjunctiva for approximately 3 months. On examination, a red, pedunculated fragile lesion on the medial lower eyelid conjunctiva was observed. Ophthalmologic examination revealed that visual acuity was 20/20 in both eyes. Anterior and posterior segment examination was normal bilaterally. The lesion was excised completely under local anesthesia and sent for pathological examination. Histopathological examination revealed multiple vascular structures with small-diameters in the fibrous stroma. Vessels showed strong CD31 expression in immunohistochemical staining. Kaposi sarcoma was excluded due to negative HHV-8 staining. These findings were diagnostic of pyogenic granuloma. The frequency of pyogenic granuloma increases during pregnancy and surgical excision is important in diagnosis and treatment of these patients. This is the first reported case of conjunctival pyogenic granuloma during pregnancy.

RESUMO O granuloma piogênico é uma lesão vascular benígna comum da pele e da mucosa. Neste caso, uma mulher de 34 anos com 28 semanas de gestação, apresentou queixa de massa em crescimento e sangramento ocasional na conjuntiva inferior da pálpebra esquerda por cerca de 3 meses. No exame, detectou-se uma lesão frágil, pedunculada vermelha na conjuntiva na porção medial da pálpebra inferior No exame oftalmológico, a acuidade visual foi 20/20 em ambos os olhos. O exame dos segmentos anterior e posterior foi normal bilateralmente. A lesão foi excisada totalmente com anestesia local e enviada para exame patológico. No exame histopatológico, múltiplas estruturas vasculares de pequeno diâmetro foram observadas no estroma fibroso. Os vasos apresentaram forte expressão de CD31 na coloração imuno-histoquímica. O sarcoma de Kaposi foi excluído devido à negatividade da coloração do HHV-8. Esses achados foram diagnósticos para granuloma piogênico. A frequência de granuloma piogênico aumenta durante a gestação e a excisão cirúrgica é importante no diagnóstico e tratamento desses pacientes. Este é o primeiro caso relatado de granuloma piogênico conjuntival ocorrido durante a gestação.

Conjunctival pyogenic granuloma during pregnancy.

Pyogenic granuloma is a common benign, vascular lesion of the skin and mucosa. Our case was a 34-year-old woman at 28 weeks of gestation. She presented with a complaint of a growing and occasionally bleeding mass on the left lower eyelid conjunctiva for approximately 3 months. On examination, a red, pedunculated fragile lesion on the medial lower eyelid conjunctiva was observed. Ophthalmologic examination revealed that visual acuity was 20/20 in both eyes. Anterior and posterior segment examination was normal bilaterally. The lesion was excised completely under local anesthesia and sent for pathological examination. Histopathological examination revealed multiple vascular structures with small-diameters in the fibrous stroma. Vessels showed strong CD31 expression in immunohistochemical staining. Kaposi sarcoma was excluded due to negative HHV-8 staining. These findings were diagnostic of pyogenic granuloma. The frequency of pyogenic granuloma increases during pregnancy and surgical excision is important in diagnosis and treatment of these patients. This is the first reported case of conjunctival pyogenic granuloma during pregnancy.