Surgical management of glaucoma secondary to indirect carotid-cavernous fistula: A case report.

INTRODUCTION: Indirect carotid-cavernous fistula (CCF) can lead to secondary glaucoma, posing significant treatment challenges. This paper discusses a case where standard embolization failed, and an Ahmed FP7 valved glaucoma tube shunt was crucial for managing the increased intraocular pressure (IOP), highlighting the necessity for individualized surgical approaches. CASE PRESENTATION: A 48-year-old female presented in the emergency department with conjunctival hyperemia, proptosis and elevated IOP; initial imaging findings were indicative of orbital inflammatory disease. Further evaluation with cerebral CT angiography revealed a possible CCF. Subsequent angiography confirmed an indirect CCF type D, leading to the patient undergoing endovascular embolization. Final monitoring revealed a subtotal occlusion of the fistula. Although there was some improvement post-procedure, IOP remained elevated despite medication, and subsequent attempts of embolization were unsuccessful. Surgical intervention with a tube shunt was performed, allowing IOP to decreased to a normal range. Optic nerve head optical coherence tomography, standard automated perimetry, and best-corrected visual acuity remained stable during the 33-month follow-up. DISCUSSION: In managing glaucoma linked to CCF, a multidisciplinary approach is critical. Conservative methods are often adequate, with spontaneous CCF closure observed in a significant percentage. Endovascular embolization is reserved for refractory cases, with embolization showing a higher rate of IOP normalization compared to medication alone. Yet, when fistula closure is challenging or contraindicated, individualized management strategies like glaucoma surgery may be employed. CONCLUSIONS: When fistula closure is not achievable, the Ahmed FP7 valved tube shunt can successfully regulate IOP with minimal complications, providing an effective alternative for refractory cases.

Successful management of bilateral orbital metastases from invasive lobular breast cancer with abemaciclib and letrozole: a case report and literature review.

Breast cancer is a significant global health concern, contributing to substantial morbidity and mortality among women. Hormone receptor-positive (HR+)/HER2-negative (HER2-) breast cancer constitutes a considerable proportion of cases, and significant advancements have been made in its management. CDK4/6 inhibitors (CDK4/6is) are a new targeted therapy that has demonstrated efficacy in adjuvant, advanced and metastatic settings. The propensity of lobular breast carcinomas for estrogen-rich sites, such as periocular tissues and orbital fat, may explain their tendency for orbital metastases. Current treatment strategies for these cases are predominantly palliative, and the prognosis remains poor. This article presents a unique case of a 51-year-old female with progressive right periorbital edema, pain, and limited ocular motility. An imaging work-up showed bilateral intra and extraconal orbital infiltration, which was biopsied. The histopathologic analysis disclosed mild chronic inflammatory infiltrate with thickened fibrous tissue and moderately differentiated lobular carcinoma cells, positive for GATA3 and CK7 markers, with 100% of tumor nuclei expressing estrogen receptors (ER+). A systemic evaluation showed a multicentric nodular formation in both breasts. Further diagnostic assessments unveiled an HR+/HER2- bilateral lobular breast carcinoma with synchronous bilateral orbital metastases. Systemic treatment was initiated with abemaciclib 150mg twice daily and letrozole 2.5mg once a day. However, this regimen was interrupted due to toxicity. After two weeks, treatment was resumed with a reduced abemaciclib dose (100mg twice daily) alongside letrozole, with a reasonable tolerance. Nearly two years after the initial diagnosis of inoperable metastatic cancer, the patient remains on the same systemic treatment regimen with no signs of invasive disease. This case report is the first of a patient presenting with bilateral orbital metastases from bilateral lobular breast cancer, showing an impressive and sustained response to a first-line treatment regimen combining abemaciclib and letrozole. A literature review on bilateral orbital metastases from breast cancer is also presented.

Horizontal Gaze Palsy and Progressive Scoliosis in Dizygotic Twins.

Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by mutations in the ROBO3 gene. Clinical presentation consists of impairment of conjugate horizontal eye movements together with a progressive scoliosis beginning in childhood. We report dizygotic twins with HGPPS that had absence of conjugate horizontal eye movements combined with divergent strabismus and synergistic divergence. One of them also had a congenital palpebral ptosis and vertical strabismus of the right eye. Onset of scoliosis occurred in childhood with rapid progression in the second decade of life. Brain imaging showed characteristic features of the disease such as hypoplasia of the pons and a midline cleft of the brainstem with a butterfly-like bifid appearance. Genetic analysis revealed a pathogenic homozygous mutation on the ROBO3 gene. These siblings and a previous report of two other individuals with the same disorder from the same small geographical region with less than 38000 inhabitants, likely represent a founder effect.

Adenoid cystic carcinoma of the palpebral lobe of the lacrimal gland - case report and literature review.

Epithelial tumors of the lacrimal gland are rare and usually develop in the orbital lobe. We report the exceedingly rare occurrence of a primary adenoid cystic carcinoma in the palpebral lobe of the lacrimal gland. A 26-year-old female was referred for evaluation of a gradually enlarging mass in the lateral upper eyelid, previously diagnosed as a chalazion. Computed tomography revealed a heterogeneous round lesion anterior to the orbital rim. Excisional biopsy was compatible with an adenoid cystic carcinoma. After excluding distant metastasis, and as the patient refused adjuvant radiotherapy, a second surgical procedure, with wide local excision, was indicated. Follow-up showed no recurrence. This case highlights the importance of performing a thorough clinical examination when diagnosing any lateral upper eyelid mass. A high index of suspicion for malignant tumors of the lacrimal gland should always be maintained, and a complete excision with histological analysis should be preferred whenever possible.

Vismodegib for treatment of periocular basal cell carcinoma - 6-year experience from a tertiary cancer center

Abstract Background: The treatment of advanced periocular basal cell carcinomas becomes a challenge as surgery may involve highly mutilating procedures. Vismodegib is the first selective hedgehog inhibitor approved for the treatment of locally advanced tumors or metastatic disease. Objective: Analyze the results of treatment with vismodegib for advanced periocular basal cell carcinomas in a real-life setting of a reference center between 2014 and 2020. Methods: Retrospective longitudinal study. The patient's demographic profile, comorbidities, tumor characteristics, and treatment outcomes were analyzed. Results: A total of 13 patients were included. Median follow-up and treatment duration were 15.9 and 10.5 months, respectively. Objective clinical response rate was 76.9%: 30.8% had a complete response and 46.2% a partial response. The median duration of response was 13 months. Progressive disease was observed in 38.5% of cases, with a median of 19 months after the beginning of treatment. Eighty-four percent of the patients had at least one adverse event, and 61.54% needed to interrupt treatment temporarily or permanently to increase tolerability. Study limitations: Being a retrospective study in a real-life setting, the evaluation of objective clinical response was subjective to physician appreciation. Conclusion: Vismodegib is a safe and effective treatment for locally advanced basal cell carcinoma. To prevent recurrences, the drug should be used continually when tolerated. The role of neoadjuvant vismodegib before surgery is being investigated and might add an important step in searching for a definitive treatment for these cases.

Oral Iron Supplementation in Pregnancy: Current Recommendations and Evidence-Based Medicine.

OBJECTIVE: To review the evidence about universal iron supplementation in pregnancy to prevent maternal anemia. METHODS: Bibliographic research of randomized and controlled clinical trials, meta-analyses, systematic reviews, and clinical guidelines, published between August 2009 and August 2019, using the MeSH terms: iron; therapeutic use; pregnancy; anemia, prevention and control. RESULTS: We included six clinical guidelines, three meta-analyses and one randomized controlled clinical trial. DISCUSSION: Most articles point to the improvement of hematological parameters and reduction of maternal anemia risk, with supplementary iron. However, they do not correlate this improvement in pregnant women without previous anemia with the eventual improvement of clinical parameters. CONCLUSION: Universal iron supplementation in pregnancy is controversial, so we attribute a SORT C recommendation strength.

OBJETIVO: Rever a evidência sobre a necessidade de suplementação universal de ferro na gravidez para prevenção de anemia materna. MéTODOS: Pesquisa bibliográfica de ensaios clínicos aleatorizados e controlados, metanálises, revisões sistemáticas e normas de orientação clínica, publicados entre agosto de 2009 e agosto de 2019, utilizando os termos MeSH: iron, terapêuticas use; pregnancy; anemia, preventivos and control. RESULTADOS: Incluímos seis normas de orientação clínica, três metanálises e um ensaio clínico randomizado e controlado. DISCUSSãO: A maioria dos artigos aponta para a melhoria dos parâmetros hematológicos e redução do risco de anemia materna por meio da suplementação com ferro. Todavia, eles não correlacionam a melhoria destes parâmetros em grávidas sem anemia prévia com a eventual melhoria de parâmetros clínicos. CONCLUSõES: A suplementação universal com ferro na gravidez é controversa, pelo que atribuímos uma força de recomendação SORT C.

Oral Iron Supplementation in Pregnancy: Current Recommendations and Evidence-Based Medicine Suplementação oral de ferro na gravidez: recomendações atuais e medicina baseada na evidência

Abstract Objective To review the evidence about universal iron supplementation in pregnancy to prevent maternal anemia. Methods Bibliographic research of randomized and controlled clinical trials, meta-analyses, systematic reviews, and clinical guidelines, published between August 2009 and August 2019, using the MeSH terms: iron; therapeutic use; pregnancy; anemia, prevention and control. Results We included six clinical guidelines, three meta-analyses and one randomized controlled clinical trial. Discussion Most articles point to the improvement of hematological parameters and reduction of maternal anemia risk, with supplementary iron. However, they do not correlate this improvement in pregnant women without previous anemia with the eventual improvement of clinical parameters. Conclusion Universal iron supplementation in pregnancy is controversial, so we attribute a SORT C recommendation strength.

Resumo Objetivo Rever a evidência sobre a necessidade de suplementação universal de ferro na gravidez para prevenção de anemia materna. Métodos Pesquisa bibliográfica de ensaios clínicos aleatorizados e controlados, metanálises, revisões sistemáticas e normas de orientação clínica, publicados entre agosto de 2009 e agosto de 2019, utilizando os termos MeSH: iron, terapêuticas use; pregnancy; anemia, preventivos and control. Resultados Incluímos seis normas de orientação clínica, três metanálises e um ensaio clínico randomizado e controlado. Discussão A maioria dos artigos aponta para a melhoria dos parâmetros hematológicos e redução do risco de anemia materna por meio da suplementação com ferro. Conclusões A suplementação universal com ferro na gravidez é controversa, pelo que atribuímos uma força de recomendação SORT C.

Vismodegib for treatment of periocular basal cell carcinoma - 6-year experience from a tertiary cancer center.

BACKGROUND: The treatment of advanced periocular basal cell carcinomas becomes a challenge as surgery may involve highly mutilating procedures. Vismodegib is the first selective hedgehog inhibitor approved for the treatment of locally advanced tumors or metastatic disease. OBJECTIVE: Analyze the results of treatment with vismodegib for advanced periocular basal cell carcinomas in a real-life setting of a reference center between 2014 and 2020. METHODS: Retrospective longitudinal study. The patient's demographic profile, comorbidities, tumor characteristics, and treatment outcomes were analyzed. RESULTS: A total of 13 patients were included. Median follow-up and treatment duration were 15.9 and 10.5 months, respectively. Objective clinical response rate was 76.9%: 30.8% had a complete response and 46.2% a partial response. The median duration of response was 13 months. Progressive disease was observed in 38.5% of cases, with a median of 19 months after the beginning of treatment. Eighty-four percent of the patients had at least one adverse event, and 61.54% needed to interrupt treatment temporarily or permanently to increase tolerability. STUDY LIMITATIONS: Being a retrospective study in a real-life setting, the evaluation of objective clinical response was subjective to physician appreciation. CONCLUSION: Vismodegib is a safe and effective treatment for locally advanced basal cell carcinoma. To prevent recurrences, the drug should be used continually when tolerated. The role of neoadjuvant vismodegib before surgery is being investigated and might add an important step in searching for a definitive treatment for these cases.

Bilateral metastases to the extraocular muscles from small cell lung carcinoma / Metástases bilaterais aos músculos extraoculares de um carcinoma de pequenas células do pulmão

ABSTRACT Bilateral orbital metastases restricted to the extraocular muscles (EOMs) are exceedingly rare. We report a case of bilateral extraocular muscle metastases from a small cell lung carcinoma and provide a review of the relevant literature. A 56-year-old smoker presented with proptosis, motility changes, and a relative afferent pupillary defect of the left eye, with a previous history of a small cell lung carcinoma. An orbital computerized tomography scan revealed a mass restricted to the left medial rectus. An incisional biopsy confirmed metastasis. Visual acuity of the left eye decreased rapidly, and right globe proptosis became evident. Orbital magnetic resonance imaging at two months follow-up showed marked left orbital mass enlargement and a new right lateral rectus mass. The patient was maintained on palliative care and died from metastatic disease-related complications.

RESUMO As metástases orbitárias bilaterais restritas aos mús­culos extraoculares são extremamente raras. Os autores apresentam um caso de metástases bilaterais, localizadas aos musculares extraoculares com base num carcinoma de pequenas células do pulmão e revisão da literatura relevante. Um homem, fumador, de 56 anos recorreu ao serviço de urgência por proptose, alterações de motilidade ocular extrínseca e um defeito pupilar aferente relativo do olho esquerdo, com história pessoal de carcinoma de pequenas células do pulmão. A tomografia computadorizada orbitária revelou uma massa restrita ao reto medial esquerdo. Uma biópsia incisional confirmou o diagnóstico de metástase. A acuidade visual do olho esquerdo diminuiu rapidamente e surgiu uma proptose do globo ocular direito. A ressonância magnética orbitária aos dois meses de seguimento revelou um aumento da massa orbitária esquerda e uma nova massa no reto lateral direito. O paciente foi mantido em cuidados paliativos e faleceu devido a complicações relacionadas com doença metastática.

Bilateral metastases to the extraocular muscles from small cell lung carcinoma.

Bilateral orbital metastases restricted to the extraocular muscles (EOMs) are exceedingly rare. We report a case of bilateral extraocular muscle metastases from a small cell lung carcinoma and provide a review of the relevant literature. A 56-year-old smoker presented with proptosis, motility changes, and a relative afferent pupillary defect of the left eye, with a previous history of a small cell lung carcinoma. An orbital computerized tomography scan revealed a mass restricted to the left medial rectus. An incisional biopsy confirmed metastasis. Visual acuity of the left eye decreased rapidly, and right globe proptosis became evident. Orbital magnetic resonance imaging at two months follow-up showed marked left orbital mass enlargement and a new right lateral rectus mass. The patient was maintained on palliative care and died from metastatic disease-related complications.

Risk factors for development of new skin neoplasms in patients with past history of skin cancer: A survival analysis.

We conducted a retrospective study aiming to assess the risk, and associated risk factors, of developing subsequent skin cancers after having a first diagnosis of skin cancer. We included all patients with biopsy-proven skin cancer attending a dermatology clinic between July 2007 and July 2017. We assessed the frequency of new skin cancers, as well as potential demographic and clinical factors significantly associated with occurrence of such neoplasms, that were identified by means of a survival analysis. We analyzed 969 patients with a total of 1584 skin neoplasms (1122 basal cell carcinomas (BCC), 310 squamous cell carcinomas (SCC), 143 melanomas and 9 other neoplasms). 165 patients (17.0%) developed subsequent skin neoplasms. Factors identified in multivariable models to be significantly associated with development of new skin cancers included older age (adjusted HR = 1.04 per year; 95%CI = 1.02-1.05; p < 0.001), and presence of synchronous neoplasms (adjusted HR = 2.25; 95%CI = 1.61-3.14; p < 0.001). Having a history of a BCC was significantly associated with development of new BCC (adjusted HR = 1.63; 95%CI = 1.05-2.54; p = 0.030), while having a previous SCC was associated with occurrence of subsequent SCC (adjusted HR = 3.60; 95%CI = 1.93-6.72; p < 0.001). These findings point to the importance of careful follow-up (e.g., skin self-examination and full body examination) of skin cancer patients.

Lentigo Maligna - Not Always a Face and Neck Disease of the Elderly.

INTRODUCTION: Lentigo maligna (LM) is a rare form of in situ melanoma, frequently seen as a large patch in elderly patients. The aim of this study was to assess clinical and dermoscopic features of LM. MATERIAL AND METHODS: A retrospective study of LM patients presenting to our center between July 2007 and July 2017 was performed. Demographic data, anatomical location, laterality, diameter, Clark level, Breslow stage, "ABCD" signs and dermoscopic features were registered. Facial versus extrafacial LM were compared. RESULTS: We found 21 LM, of which 12 had an extrafacial location and 9 a facial location. Half of the extrafacial lesions were located on an upper limb. The median age at diagnosis was 63 years (ranging from 38 to 84 years). Most LM cases were female (16/21) with phototype II (13/21). More than half of the patients (11/21) had a history of a skin neoplasm or actinic keratosis. The median diameter found was 6 mm (interquartile range = 4.5 mm), ranging from 1 to 15 mm. Five lesions were invasive (median Breslow depth of 0.2 mm), and 4 of them were extrafacial. DISCUSSION: In this study LM was more frequently found in an extrafacial location and as a small patch with a 6-mm diameter medium. The epidemiology of LM/LM melanoma might be changing. Full body examination and dermoscopy are of the utmost importance for the diagnosis. Dermatologists should be aware and search for small lesions outside the face and neck, particularly in middle-aged female patients with photo-damaged skin.

Sun protection in children: a behavioural study.

BACKGROUND: Incidence of skin cancer is increasing worldwide and UV exposure at a young age is an important risk factor. OBJECTIVES: To compare sun exposure-related knowledge and behaviour among children during school and holiday periods. MATERIAL & METHODS: A cross-sectional study was undertaken at 12 Oporto public primary schools. Educational sessions for educators were head by dermatologists every spring from 2004 to 2012. An educational activity book, Play and Learn with Jo Spots, was distributed to all primary school children and was explained by the educators every year. A questionnaire about sun exposure and behaviour was given to students in 2004 and 2012. RESULTS: In total, 2,114 students answered the questionnaire (1,233 in 2004 and 881 in 2012). Children practiced more outdoor sports in 2012 than in 2004 (86% vs 56%; p<0.001), but spent less time outside when the sun's rays were most dangerous. The use of hats (64% vs 59%; p = 0.028) and sunscreen (35% vs 15%; p<0.001) at school and the application of sunscreen before going to the beach improved over time (51% vs 26% in 2004; p<0.001). However, there was an increase in sunburn rate (43% vs 37%; p = 0.005). CONCLUSION: Sun exposure-related behaviour among primary school students in Oporto is improving but is still far from optimal. School would appear to be an adequate setting for effective and long-lasting sun protection interventions, and the introduction of educational books at schools, such as Play and Learn with Jo Spots, might be effective in bringing about positive behavioural changes.

Sun protection behaviour and skin cancer literacy among outdoor runners.

Outdoor runners have an increased risk of melanoma and non-melanoma skin cancer. The purpose of this study was to assess skin cancer literacy and sun exposure and protection behaviour among outdoor runners during training. A cross-sectional survey-based study was conducted. All athletes registered for four consecutive running events in Porto: the Porto Marathon (November 2014), the Fathers' Day 10-km race (March 2015), the Saint John's Day 15-km race (June 2015), and the Porto half-marathon (September 2015). Athletes were invited to answer an online survey with 23 questions on the following items: sociodemographic and constitutional factors, skin cancer literacy, and sun exposure and protection behaviour. A scoring system was devised to analyse behaviour. Multivariate analysis was performed. The survey was completed by 2,445 runners, 2,159 of whom trained outdoors. Only 23.5% had adequate sun exposure and protection behaviour. A higher proportion of women than men had adequate behaviour (33% versus 17%; P < 0.001). Athletes with a university, or higher degree were more knowledgeable about skin cancer than those with a lower level of education, however, their behaviour in relation to sun exposure and protection was the same. Based on multivariate analysis, gender, skin type, marital status, and average number of hours spent training significantly affected attitude score. Investment in more targeted campaigns, aimed particularly at high-risk groups such as outdoor athletes, is essential to modify attitudes and behaviour regarding sun exposure and protection. Outdoor sports event organisers and sport associations also need to engage.

Are General Physicians Prepared for Struggling Skin Cancer?-Cross-Sectional Study.

The aim of this study is to evaluate the role of general practitioners (GP) in selecting higher risk population for skin cancer screening. GP's training was organized to examine a specific high risk population consisting mainly of fisherman and farmers in a city of North of Portugal. Health care professionals of local health units training was performed by two dermatologists 2 months before the screening. During 8 weeks GPs selected patients with skin cancer suspicious lesions and/or risk factors consecutively from their regular consultation. These selected patients were referred to a dermatologist evaluation. Six dermatologists using manual dermoscopy examined the previously selected patients. One hundred eight patients have been screened, 35 % of which were males and 65 % females, with a mean age of 54 years. Full skin evaluation by dermatologists revealed 31 % of actinic keratosis, 5 % of leucoplasia, 7 % of basal cell carcinoma, 8 % of squamous cell carcinoma, and 1 % of melanoma. Cohen's kappa coefficient between dermatologist and GPs was 0.18. Selective screening with collaboration of GPs allowed the detection of more cases of skin cancer than the nonselective screenings in the literature. Although the diagnostic agreement between GPs and dermatologists was not good, our results indicate that active collaboration of dermatologists with primary health care units for selective skin cancer screening, including post graduated courses on their own health units, can be a way of optimizing early detection of cutaneous pre malignant and malignant lesions.

Intraconal gauze mass: An unusual complication of orbital fracture repair - a case report.

Gossypiboma and textiloma are terms used to describe tumor-like masses caused by retained gauze or surgical sponges after any operation. It is a rare surgical complication, usually difficult to diagnose due to its variable clinical presentation and nonstandard radiological appearance. We describe here a rare case of orbital gossypiboma in a child after surgical correction of an orbital blowout fracture.

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I. The LG volumes were measured on computed tomography (CT) scans in the BPES sample and in a group of age-matched subjects imaged for nonorbital diseases. Sixteen patients were screened for mutations in the FOXL2 gene. MAIN OUTCOME MEASURES: Lacrimal meniscus height, Schirmer test I, presence of superficial punctate keratopathy (SPK), LG volume, and molecular analysis of the FOXL2 gene. RESULTS: Absence of LG was detected bilaterally in 9 patients (42.8%) and unilaterally in 2 patients (9.5%). When considering only patients with measurable LG, the median volume was 0.22 cm3 in the right eye (range, 0.06-0.36 cm3) and 0.24 cm3 in the left eye (range, 0.08-0.34 cm3). These values were significantly lower than those for the age-matched controls (median = 0.54 right eye and 0.53 left eye; P < 0.05). There was a significant association between deficiency of tear production and LG volume reduction and agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations, 4 of them novel ones. A significant reduction of LG size or agenesis was associated with mutations affecting protein size (due to underlying changes in the stop codon location) or the DNA-binding forkhead domain (Fisher exact test, P = 0.021). In 3 probands, the underlying genetic defect was not found. CONCLUSIONS: This is the first study reporting LG volumes in BPES, describing a significant number of patients with LG agenesis. The association between alacrima and BPES is not incidental, and a thorough evaluation of tear production is recommended especially if ptosis surgery is planned.