Progressive Keratoconus in a Patient With Severe Pectus Excavatum and a Cartilage Oligomeric Matrix Protein Gene Mutation: A Case Report.

INTRODUCTION: Keratoconus is a progressive ocular disorder associated with numerous systemic diseases, many of which affect the musculoskeletal system. Although the etiology and pathophysiology of the disorder remain elusive, recent studies suggest a significant role of genetic predisposition in the pathogenesis of keratoconus. This case report aims to elucidate a potential genetic association in a patient presenting with keratoconus, severe pectus excavatum, generalized muscular weakness, and skeletal deformities. CASE DESCRIPTION: A 31-year-old Iranian man presented with progressively diminishing vision in both eyes over the years, eventually diagnosed with keratoconus. The patient's history and further examination indicated generalized muscular weakness, skeletal deformities, and severe pectus excavatum with cardiac and large vessel displacement. Whole-exome sequencing identified two heterozygous gene variants: one in the Cartilage Oligomeric Matrix Protein (COMP) gene and another in the Regulating Synaptic Membrane Exocytosis 1 gene. The patient's systemic and ocular symptoms, combined with the gene variants identified, suggested a connective tissue systemic disorder, potentially within the clinical spectrum of COMPopathies. CONCLUSION: This is the first documented case of bilateral progressive keratoconus associated with severe pectus excavatum, generalized musculoskeletal dystrophy, and a COMP gene mutation. It highlights the necessity of continued search into the pathogenic genes of keratoconus, particularly in cases with coexisting systemic manifestations, to further our understanding of the etiology and pathogenesis of this complex disease.

COVID-19 and Acute Cholecystitis Management: A Systematic Review of Current Literature.

Introduction: Since the beginning of the COVID-19 pandemic, many patients with clinically acute presentations have been approached differently. The fear of viral transmission along with the short period of study made patients delay their hospital visits and doctors reassess the approach of certain acute situations. This study aimed to assess the changes in the management of patients with acute cholecystitis before and during COVID-19. Methods: A systematic review of the literature using PubMed (MEDLINE), Scopus, and ScienceDirect databases was performed until 01 September 2021. Totally, two kinds of studies were included, those assessing the management of acute cholecystitis during COVID-19 and those comparing the periods before and during the pandemic. The outcomes recorded include management approaches, complications, and mean length of stay. Results: A number of 15 eligible articles were included in the study. During the pandemic, six studies revealed a shift toward conservative management of acute cholecystitis and five of them reported that conservative management was opted in 73% of the patients. On the contrary, data from all studies revealed that the surgical approach was preferred in only 29.2% of patients. Furthermore, when comparing the periods before vs. during COVID-19, the conservative approach was reported in 36.3 and 43.2% before vs. during COVID-19, respectively, whereas surgical intervention was performed in 62.5% of patients before COVID-19 and 55.3% during the pandemic. The length of stay was delayed when a non-surgical approach was selected in most studies. Complications, mainly classified by the Clavien-Dindo scale, were higher in the pandemic period. Conclusion: A tendency toward more conservative approaches was observed in most studies, reversing the previously used surgical approach in most cases of acute cholecystitis. In most of the examined cases during the COVID-19 pandemic, antibiotic treatment and percutaneous cholecystostomy were much more considered and even preferred.

Paraneoplastic Pemphigus Associated with Bilateral Corneal Perforations in Follicular Dendritic Cell Sarcoma.

PURPOSE: To describe a case of paraneoplastic pemphigus (PNP) presenting as spontaneous bilateral corneal perforations in a patient with follicular dendritic cell sarcoma. METHODS: Retrospective chart reviewResults: A 73-year-old Greek woman with a history of follicular dendritic cell sarcoma (FDCS) presented with bilateral corneal perforations and a cicatrizing conjunctivitis. Her diagnosis was consistent with PNP with corneal and conjunctival involvement after a change in her chemotherapy regimen from intravenous cyclophosphamide to gemcitabine. She was treated with a multilayered amniotic membrane in the right eye and cyanoacrylate glue in the left eye. Systemic intravenous cyclophosphamide and oral prednisone were re-started. Both perforations healed but the patient passed away soon after precluding further follow-up. CONCLUSIONS: Ocular manifestations of PNP can rarely present with spontaneous corneal perforations. This is the first case of FDCS-associated PNP with corneal involvement. Such cases should be diagnosed expediently and managed with aggressive systemic immunosuppressive therapy.

Pregnancy and Viral Hepatitis: Current Concepts.

Viral hepatitis in pregnancy constitutes a complex issue, requiring meticulous management due to the potential potent compromise of both mother's and fetus' health. Hepatitis B and C are implicated with a high risk for chronicity, whereas hepatitis A and hepatitis E have an acute course. In pre-existing viral disease, pregnancy may lead to exacerbation of the disease's course due to a plethora of hormonal, immunological and genetic alterations. Vice versa, viral hepatitis, acute or chronic, during pregnancy, can cause gestational complications that may lead to significant maternal and neonatal morbidity and mortality. Mother to child transmission of hepatitis B and C virus, in high prevalence areas, has been recognized as a major cause of chronic viral infection and related complications in children. Due to the physiologic alterations in pregnancy, therapeutic indications may differ from those in the general population and there is an expanding field of research on available drugs and vaccines efficacy and safety during pregnancy. Of utmost importance remains the implementation of a preventive strategy in order to reduce the rates of vertical transmission. Universal screening of pregnant women, assessing the risk of transmission and determining the mode of delivery and the impact of breastfeeding are crucial aspects of this strategy. This review summarizes the impact of viral hepatitis in pregnancy, strategies of prevention of vertical transmission and available treatments.

Bilateral benign reactive lymphoid hyperplasia of the conjunctiva: a case treated with oral doxycycline and review of the literature.

BACKGROUND: To report a case of bilateral benign reactive lymphoid hyperplasia (BRLH) of the conjunctiva treated with oral doxycycline and perform review of the literature evaluating the presentation, treatment and risk of transformation to lymphoma. CASE PRESENTATION: A case report is described and review of the literature from January 1975 to January 2019 was performed. A 30-year-old man presented with bilateral enlarging fleshy pink medial canthal conjunctival lesions. Incisional biopsy revealed BRLH. Oral doxycycline was initiated (100 mg two times a day) for a total of 2 months. Both lesions decreased in size significantly at the patient's two-month follow up visit. The residual lesion in the right eye was excised along with an adjacent pterygium and the patient has been free of recurrence for the past 1.5 years. The lesion in the left eye has remained stable in size after cessation of the oral doxycycline. A total of 235 cases of conjunctival BRLH were identified in our literature search. The mean age at diagnosis was 35.2 years (range, 5 to 91 years). BRLH lesions were unilateral in 75% of patients and bilateral in 25% of them. Seven patients (2.9%) had a concurrent Epstein-Barr virus (EBV) infection at the time of lesion appearance. The most common treatments were surgical excision (155/235 or 65.9%) and corticosteroids (30/235 or 12.7%), while 14% (33/235) of the patients were observed and 4.6% (11/235) received external beam radiotherapy alone. Recurrence occurred in ten patients (10/235 or 4.2%), of whom five had undergone surgical excision alone, two excision followed by external beam radiotherapy, one excision and oral corticosteroids, one radiotherapy alone and one had been treated with topical corticosteroids. Overall, only 2 of the 235 reported cases (0.8%) developed malignancy, one localized to the conjunctiva and one systemic. CONCLUSIONS: Benign reactive lymphoid hyperplasia is one of the lymphoproliferative disorders of the conjunctiva and ocular adnexa. Extensive literature review shows that most cases are treated with surgery, steroids or observation. Oral doxycycline may be considered an alternative non-invasive treatment of BRLH conjunctival lesions. BRLH lesions warrant careful follow up as they can rarely transform into conjunctival or systemic lymphoma.