Anne W. Lucky’s research while affiliated with Cincinnati Children's Hospital Medical Center and other places

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Publications (266)


Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa
  • Article

January 2025

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11 Reads

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1 Citation

British Journal of Dermatology

Pirunthan Pathmarajah

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Jean Y Tang

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function. Three impact categories were postulated: genotypes that would likely cause a low impact on C7 function (splice B/missense, missense/missense), medium impact [premature termination codon (PTC)/splice B, splice A/splice B, PTC/missense, splice A/missense, splice B/splice B] and high impact (PTC/PTC, PTC/splice A, splice A/splice A). Splice A variants are predicted to cause downstream PTCs while splice B variants cause in-frame exon skipping and are therefore less deleterious. Severity of functional impact was significantly associated with history of gastrostomy tube placement, esophageal dilation, hand surgery, anemia, renal disease, chronic wounds, diffuse skin involvement and history of squamous cell carcinoma. Odds of death were 3.25 (1.24-8.50, p=0.02) higher in the high vs medium impact group. High impact group patients had worse clinical outcomes. Functional genotype categories are a feasible approach to risk stratify patients based on predicted C7 function.





Practical considerations relevant to treatment with the gene therapy beremagene geperpavec-svdt for dystrophic epidermolysis bullosa
  • Literature Review
  • Full-text available

May 2024

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39 Reads

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2 Citations

Background/purpose Dystrophic epidermolysis bullosa (DEB), a rare genetic skin disease caused by loss-of-function mutations in COL7A1, the gene encoding type VII collagen (COL7), is characterized by skin blistering, scarring, and extracutaneous manifestations that markedly reduce patient quality-of-life. Beremagene geperpavec-svdt (‘B-VEC’) is a gene therapy employing a non-integrating, replication-defective herpes simplex virus type 1 (HSV-1)-based vector encoding two copies of full-length human COL7A1 to restore COL7 protein after topical administration to DEB wounds. B-VEC was approved in the United States in 2023 as the first topical gene therapy and the first approved treatment for DEB. However, few providers have experience with use of this gene therapy. Methods Data was obtained through literature review and the experience of providers who participated in the B-VEC clinical study or initiated treatment after B-VEC approval. Results This review discusses the burden of disease, describes the clinical trial outcomes of B-VEC, and provides physician and patient/caregiver recommendations as a practical guide for the real-world use of B-VEC, which can be administered in-office or at the patient’s home. Conclusions By continuing to optimize the practical aspects of B-VEC administration, the focus will continue to shift to patient-centric considerations and improved patient outcomes.

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Topical everolimus therapy for epidermal nevi associated with woolly hair nevus in a patient with a mosaic HRAS mutation

April 2024

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8 Reads

Pediatric Dermatology

A patient with woolly hair nevus syndrome, presented with epidermal facial nevi by the age of 12 years. Despite transient improvement with topical 1% sirolimus cream, the facial nevus grew larger. The patient was then treated with topical 1% everolimus cream resulting in a reduction in the size of the nevus. This case highlights a novel use of topical 1% everolimus cream, which previously has not been used to treat epidermal nevi.


Characterization of wound microbes in epidermolysis bullosa: A focus on Pseudomonas aeruginosa

June 2023

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40 Reads

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1 Citation

Pediatric Dermatology

The most common bacteria isolated from wound cultures in patients recorded in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database (EBCCOD) are Staphylococcus aureus and Pseudomonas aeruginosa. Given the prevalence of P. aeruginosa in this patient population and prior research implicating P. aeruginosa's potential role in carcinogenesis, we sought to further analyze patients with recorded wound cultures positive for Pseudomonas aeruginosa in the EBCCOD. We provide a descriptive analysis of this subset of patients and highlight potential avenues for future longitudinal studies that may have significant implications in our wound care management for patients with epidermolysis bullosa.


Iron status and burden of anemia in children with recessive dystrophic epidermolysis bullosa

January 2023

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18 Reads

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3 Citations

Pediatric Dermatology

Background and objectives: To describe the prevalence, severity, and management of anemia in a cohort of children with recessive dystrophic epidermolysis bullosa (RDEB) and to highlight the use of soluble transferrin receptor (sTfR) to diagnose iron deficiency in this chronic inflammatory state. Methods: We studied a cohort of 114 patients with RDEB followed at a pediatric hospital-based Epidermolysis Bullosa Center from 2010 to 2020; data were prospectively tracked in a comprehensive clinical database that captured all visits, laboratory tests, iron infusions, and transfusions. The primary outcome was occurrence of anemia, which was assessed by age and sex, with and without transfusion support. Secondary outcomes included iron status using a combination of ferritin and sTfR levels, the cumulative incidence of parenteral iron therapy and transfusions, and survival. Results: In RDEB, anemia begins in the first year of life and becomes more frequent and severe with age. The prevalence of iron deficiency anemia (IDA) estimated by ferritin was 33.6% (37/110), but the sTfR/log10 -ferritin ratio indicated a 1.5-fold higher true prevalence of IDA of 50.6% (41/81). 53.5% (61/114) received parenteral iron infusions, transfusions, or both. Higher ferritin was associated with earlier mortality. Conclusions: Individuals with RDEB have a high burden of anemia (IDA and anemia of inflammation) that requires frequent medical interventions. The sTfR/log10 -ferritin ratio improves the detection of iron deficiency in the context of inflammation and guides therapy.


Assessing pain catastrophizing and functional disability in pediatric epidermolysis bullosa patients

December 2022

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86 Reads

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1 Citation

Pediatric Dermatology

Background/objectives: The primary objective was to assess pain catastrophizing and functional disability in pediatric patients with epidermolysis bullosa (EB) and their parents/guardians. Secondary objectives included examining relationships between pain catastrophizing, functional disability, and correlations with other factors (e.g., age, disease severity, and percent of body surface area (BSA) involved). Methods: Patients with EB ages 8-16 and their parents/guardians who were English or Spanish speaking completed a one-time online survey. Parent measures included: demographics questionnaire, Pain Catastrophizing Scale-Parent (PCS), and Parent Functional Disability Inventory (FDI). Child measures included: PCS child and child FDI. Higher scores on both scales indicate higher levels of catastrophizing and functional disability. Results: Of 31 children, the mean age was 11.47 years and the majority (70.97%) had dystrophic EB. Mean scores were: 35.84 = PCS parent; 34.58 = PCS child; 30.87 = parent FDI; 29.77 = child FDI. Total scores for PCS parent, parent FDI, and child FDI increased significantly with disease severity and percentage of involved BSA (p < .01 for all). Total scores for PCS child increased significantly with percent of EB skin involvement (p = .04) but not disease severity. Older children reported more functional disability than their parents and younger children (p = .02). Conclusions: Our results demonstrate significant positive correlations between negative thoughts related to pain and the experience of functional difficulties in patients with EB and their caregivers. Psychological, psychiatric, and/or behavioral interventions to help managing chronic pain may be effective for patients with EB.


Citations (67)


... It is worth noting that in our study, the most common secondary diagnosis associated with EB was skin infections. In EB, various microorganisms have been reported to colonize wounds, impede wound healing, and lead to serious bacterial infections [30]. ...

Reference:

Clinical Characteristics and Outcomes of Patients Hospitalized with Epidermolysis Bullosa: A Retrospective Population-Based Observational Study in Spain (2016–2021)
Characterization of wound microbes in epidermolysis bullosa: A focus on Pseudomonas aeruginosa
  • Citing Article
  • June 2023

Pediatric Dermatology

... Addressing risk factors through targeted interventions and public health strategies is essential to reduce the burden of anemia and ensure optimal growth and development in children. 22 Efforts to combat iron deficiency anemia among children should focus on multiple fronts. These include promoting and improving entree to the diverse and balanced diet, educating parents and caregivers on standing of iron-rich foods, fortifying staple foods with iron, and implementing iron supplementation programs where necessary. ...

Iron status and burden of anemia in children with recessive dystrophic epidermolysis bullosa
  • Citing Article
  • January 2023

Pediatric Dermatology

... If puberty is postponed, the start of estrogen production is also delayed, potentially causing a period of inadequate estrogen levels [39]. The delay can lead to decreased bone mineral accumulation and lower maximum bone mass, both of which are important factors in assessing overall bone health in the long term [38,40]. As a result, individuals experiencing delayed puberty may be at a higher risk for bone density issues and fractures during adulthood [38,40]. ...

Prevalence of delayed puberty and low bone density in patients with epidermolysis bullosa: Insight from a large single center's experience

Pediatric Dermatology

... The skin-blistering disorder Dystrophic Epidermolysis Bullosa (DEB) maps to mutations in the COL7A1 gene and results in extreme skin fragility due to collagen VII (C7) loss at the basement membrane zone (BMZ) [11][12][13] . Without curative treatment, the only option remains palliative wound care. ...

A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa
  • Citing Article
  • October 2021

Journal of the American Academy of Dermatology

... The long-term use of retinoids can impact other organ systems, potentially leading to increased bone abnormalities such as osteoporosis and osteophyte formation and the risk of early closure of growth plates in children. The impact of these bone effects seems to rely on the amount and length of time [13]. Apart from the negative implications for bones, there doesn't seem to be any link between toxicity and how long the medication is used [12]. ...

Executive Summary: Consensus Recommendations for the Use of Retinoids in Ichthyosis and Other Disorders of Cornification in Children and Adolescents

Journal of the American Academy of Dermatology

... [3][4][5][6] The prevalence of skin diseases differs from country to country. [6][7][8] In developing countries where there is poverty and overcrowding, malnutrition and poor sanitation play an important role in acquiring common infections and infestations. While infections and infestations are most prevalent in developing countries acne, warts and eczematous disorders are most common in Western countries. ...

Most common pediatric skin conditions managed in outpatient dermatology clinics in the United States stratified by race and ethnicity
  • Citing Article
  • August 2021

Pediatric Dermatology

... Successful experiences with Allo-SCT have been reported in children. [3][4][5][6][7][8][9][10][11][12][13] However, at our knowledge, no such data exist in adults with CEP. ...

Hematopoietic stem cell transplant for erythropoietic porphyrias in pediatric patients
  • Citing Article
  • July 2021

Pediatric Blood & Cancer

... Б ульозний епідермоліз (БЕ) -хронічне захворювання, яке немає специфічного лікування, рано проявляється, часто має інвалідизуючі наслідки і значною мірою впливає на якість життя. Тяжкість захворювання може варіювати від легких форм до екстремально тяжких або летальних субтипів [4,5,8]. Діагноз підозрюють на основі клінічних проявів, але окремі підтипи не можна клінічно розрізнити при народженні [1]. ...

Diagnosis and Care of the Newborn with Epidermolysis Bullosa
  • Citing Article
  • July 2021

NeoReviews

... For clinical datasets, a classifier that combines the relative benefits of fuzzy sets and extreme learning machine (FELM) was proposed in Refs. [12][13][14]. The preprocessing, fuzzification, and classification subsystems are the three main subsystems in the FELM framework. ...

What the Pediatric and Adolescent Gynecology Clinician Needs to Know about Acne
  • Citing Article
  • March 2021

Journal of Pediatric and Adolescent Gynecology

... Recurrent infections are one of the key factors influencing the inflammatory profile and exacerbating the clinical presentation in RDEB, [24][25][26][67][68][69] with S. aureus the most commonly isolated bacteria from wounds and in sepsis. 19,26,67,68,70 In patients or caregivers, colonization of the nose and the intestine, even asymptomatically, are potential reservoirs of the pathogen, which can also be motherto-child transmitted. ...

Characterization of wound microbes in epidermolysis bullosa: Results from the epidermolysis bullosa clinical characterization and outcomes database
  • Citing Article
  • November 2020

Pediatric Dermatology