Publications by authors named "Lilly Evelyn"

Introduction: The development of certain immune-mediated diseases (IMD) in patients with inflammatory bowel diseases [IBD; Crohn's disease (CD), ulcerative colitis (UC)] has been linked to treatment of IBD. Hair loss in some patients may be due to immune-mediated alopecia areata (AA). Risk factors and outcomes of AA in patients with IBD have not been previously explored.

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  • - Myhre syndrome is a rare genetic disorder linked to mutations in the SMAD4 gene, with recent studies from Massachusetts General Hospital highlighting its complexities through evaluations of 47 patients.
  • - The findings indicate that symptom progression occurs in all patients after at least 5 years of observation, with different SMAD4 variants associated with varying health outcomes, particularly regarding hearing loss and aortic hypoplasia.
  • - There is a call for more research and evidence-based guidelines to improve understanding and treatment of Myhre syndrome, especially given the serious complications observed, including deaths related to cardiovascular issues.
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  • Ichthyoses are skin disorders marked by scaling and redness, leading to the creation of the Ichthyosis Scoring System (ISS) to quantify their severity effectively.
  • A study involving 65 participants found that ISS had excellent reliability for scoring skin conditions, both through live evaluation and photographic images.
  • The results indicate that ISS is a valid and reliable tool for assessing ichthyosis severity, making it suitable for clinical use and potentially a standard in the field.
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Congenital ichthyoses are a group of hereditary disorders of keratinization that are challenging to treat. Affected individuals suffer not only from thickening of the skin but also associated complications such as growth restriction, hearing and eye complications, infections, and thermodysregulation. This clinical review provides a practical roadmap to the longitudinal care of patients with ichthyosis with both general and age- and disease-specific recommendations.

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The early phase of the COVID-19 pandemic prompted a repurposing of antiviral and immunomodulatory drugs as investigational therapeutics, including hydroxychloroquine and chloroquine. While antimalarials have been well-refuted as a treatment for COVID-19, data on these drugs' role in preventing SARS-CoV-2 infection as pre-exposure prophylaxis is more limited. We investigated the efficacy of antimalarial drugs as pre-exposure SARS-CoV-2 prophylaxis in a US tertiary-care center.

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Objective: The aim of this study was to determine the rate of coronavirus disease-19 (COVID-19) among patients with cancer treated with immune checkpoint inhibitors (ICIs).

Materials And Methods: This was a retrospective study of 1,545 patients with cancer treated with ICIs between July 1, 2019, and February 29, 2020, and 20,418 age-, sex-, and cancer category-matched controls in a large referral hospital system. Confirmed COVID-19 case and mortality data were obtained with Massachusetts Department of Public Health from March 1 through June 19, 2020.

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Little guidance on management of basal cell nevus syndrome in children exists. We report a case series of four patients diagnosed with BCNS in early childhood, in whom several highly suspicious lesions were biopsied, but several smaller and questionably concerning lesions were treated with therapies that are more tolerable for children, including topical imiquimod, 5-fluorouracil, cryotherapy, or touch electrodessication following topical anesthetic cream. These therapies were well tolerated, and all residual or persistent lesions were subsequently biopsied and found to be benign.

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  • CARD9 is a crucial adaptor protein that helps immune cells like macrophages and neutrophils fight off fungal infections in the skin.
  • Mutations in the CARD9 gene can increase vulnerability to severe fungal infections in otherwise healthy individuals.
  • A case study of a patient with rare mutations in CARD9 shows a persistent dermatophyte infection that resists treatment, emphasizing the need for better understanding and targeting of CARD9-related conditions.
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Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome from adolescents in transition, through adulthood, and into another transition as older women.

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Background: Infant death in keratitis-ichthyosis-deafness (KID) syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood.

Objective: We sought to discover characteristics that account for poor outcomes in lethal KID syndrome.

Methods: We collected 4 new cases and 9 previously reported, genotyped cases of lethal KID syndrome.

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This case series presents 3 cases of patients with Hailey-Hailey disease demonstrating varying responses to naltrexone.

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Background: Patients presenting for appearance-related concerns are often perceived as being more difficult (ie, more needy, more difficult to satisfy) than patients presenting for medical dermatologic problems. While the reasons for this perception are many, some hypothesize that this may be related to a higher rate of anxiety, depression, or body image issues among these patients.


Objective: To determine the prevalence of psychotropic medication use in cosmetic dermatology patients compared to the prevalence of such medication use in general dermatology patients.

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Gap junctions and hemichannels comprised of connexins influence epidermal proliferation and differentiation. Significant advances in our understanding of the functional role of connexins in the skin have been made by studying the diseases caused by connexin mutations. Eleven clinically defined cutaneous disorders with an overlapping spectrum of phenotypes are caused by mutations in five different connexin genes, highlighting that disease presentation must be deciphered with an understanding of how connexin functions are affected.

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Leser-Trélat sign is a controversial paraneoplastic phenomenon characterized by an eruption of seborrheic keratoses (SKs). We report a rare case of eruptive inflammatory SKs in a man undergoing induction chemotherapy for acute myeloid leukemia (AML). We also review the literature on Leser-Trélat sign.

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