William D. James’s research while affiliated with University of Pennsylvania and other places

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Publications (330)


Fig. 1. Visual representation of ARP of a patient previously described in Guzman et al. 1 ARP, acute and recurrent pustulosis.
Collection of 23 cases of ARP
Acute and recurrent pustulosis: consolidating uncommon cases of follicular pustulosis induced by UV light and other triggers
  • Literature Review
  • Full-text available

July 2023

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149 Reads

International Journal of Women’s Dermatology

Amanda P. Porter

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William D. James

Background There are a growing number of patients with acute and recurrent pustular reactive dermatitis reported without clear parameters to define the entities. Consolidation of cases under the term acute and recurrent pustulosis (ARP) will aid dermatologists in diagnosing such patients in the future. Objective Describe the parameters which define acute and recurrent pustulosis and communicate the high predominance for onset in young women based on reported cases. Methods PubMed literature search for reports of recurrent follicularly centered neutrophilic eruptions. Results According to the clinical characteristics of ARP, 23 patients were identified from prior reports. Interestingly, 20 out of 23 patients were women with a high predominance in early adulthood. Limitations This is an understudied and underreported clinical entity. Therefore, limitations include availability of case reports and lack of prior research available on PubMed. Conclusion ARP is defined as follicular pustules that occur and remit without treatment and within a week of an identifiable trigger, predominantly affecting women. Consolidating reports of ARP under clear criteria will aid clinical dermatologists in diagnosing this unreported dermatitis.

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Identification of a neutrophil-specific PIK3R1 mutation facilitates targeted treatment in a patient with Sweet syndrome

November 2022

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40 Reads

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6 Citations

The Journal of clinical investigation

Shreya Bhattacharya

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Sayon Basu

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Emily Sheng

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[...]

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Background Acute febrile neutrophilic dermatosis (Sweet syndrome) is a potentially fatal multiorgan inflammatory disease characterized by fever, leukocytosis, and a rash with a neutrophilic infiltrate. The disease pathophysiology remains elusive, and current dogma suggests that Sweet syndrome is a process of reactivity to an unknown antigen. Corticosteroids and steroid-sparing agents remain frontline therapies, but refractory cases pose a clinical challenge.MethodsA 51-year-old woman with multiorgan Sweet syndrome developed serious corticosteroid-related side effects and was refractory to steroid-sparing agents. Blood counts, liver enzymes, and skin histopathology supported the diagnosis. Whole-genome sequencing, transcriptomic profiling, and cellular assays of the patient's skin and neutrophils were performed.ResultsWe identified elevated IL-1 signaling in lesional Sweet syndrome skin caused by a PIK3R1 gain-of-function mutation specifically found in neutrophils. This mutation increased neutrophil migration toward IL-1β and neutrophil respiratory burst. Targeted treatment of the patient with an IL-1 receptor 1 antagonist resulted in a dramatic therapeutic response and enabled a tapering off of corticosteroids.Conclusion Dysregulated PI3K/AKT signaling is the first signaling pathway linked to Sweet syndrome and suggests that this syndrome may be caused by acquired mutations that modulate neutrophil function. Moreover, integration of molecular data across multiple levels identified a distinct subtype within a heterogeneous disease that resulted in a rational and successful clinical intervention. Future patients will benefit from efforts to identify potential mutations. The ability to directly interrogate the diseased skin allows this method to be generalizable to other inflammatory diseases and demonstrates a potential personalized medicine approach for patients with clinically challenging disease.Funding SourcesBerstein Foundation, NIH, Veterans Affairs (VA) Administration, Moseley Foundation, and H.T. Leung Foundation.








Citations (54)


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Reference:

The Use of Topical JAK Inhibitors in Dermatology
Contact Dermatitis and Drug Eruptions
  • Citing Chapter
  • January 2018

... Sitosterolemia was described for the first time in 1974 by two sisters of Swiss and German origin [22]. It is caused by mutations of the genes encoding the structure and function of segments of the ABC cassette-more detailly in the ABCG5 (sterolin-1) and ABCG8 (sterolin-2) which are expressed in the liver and intestine [23]. Moreover, patients with phytosterolemia have high cholesterol synthesis due to HMG-CoA reductase upregulation. ...

Errors in Metabolism
  • Citing Chapter
  • January 2018

... La eritrodermia, también conocida como dermatitis exfoliativa generalizada o eritrodermia exfoliativa, es una patología poco frecuente, sin embargo, puede llegar a tener una mortalidad de hasta un 64%, por lo que requiere una identificación pronta y un manejo precoz (3). Algunos autores coinciden en que la eritrodermia no constituye una entidad definida, sino más bien un fenotipo clínico que puede presentarse en diversas patologías, tanto benignas como malignas, y encontrar su causa subyacente puede ser un verdadero reto médico (4). Mediante esta revisión bibliográfica actualizada, se pretende abordar generalidades de la eritrodermia en adultos, su presentación clínica clásica y algunos escenarios clínicos distintos que se han reportado en los últimos años, así como su manejo inicial, tratamiento y posibles complicaciones. ...

Pityriasis Rosea, Pityriasis Rubra Pilaris, and Other Papulosquamous and Hyperkeratotic Diseases
  • Citing Chapter
  • January 2018

... HUVS is a rare condition with a wide variety of associated manifestations, therefore its pathophysiology is not yet completely understood, although it is considered to be mediated by antigen-antibody complexes that are deposited on vascular lumina, resulting in complement activation through the classical pathway [1,2]. The association between HUVS and malignancies, particularly Hodgkin's and non-Hodgkin's lymphomas has been reported, yet the mechanism behind this association is not fully established, as to whether hypocomplementemic urticarial vasculitis is the cause or the consequence of the malignancy [3]. ...

Cutaneous Vascular Diseases
  • Citing Chapter
  • January 2018

... Additionally, infections can spread from person to person, particularly among persons who have tinea capitis or pedis, or via the soil. The lesions typically present as centrifugally developing plaques that are erythematous, annular to serpiginous, with peripheral scale and center clearing [4] . According to Dr. Kent's homoeopathic tenet, "The microorganism is not the cause of disease. ...

Diseases Resulting From Fungi and Yeasts
  • Citing Chapter
  • January 2018

... A recent study of Bhattacharya et al. [34] reported 1.622 differentially expressed genes (DEGs) in the patient's SS lesional skin compared with HCs, revealing an enrichment for genes involving neutrophil-specific functions as well as neutrophil-related immune pathways and regulation of IL-1 production. As for the latter, IL-1β gene expression was substantially increased at the lesional skin level of a subset of SS patients, differently from what was observed for neutrophil marker genes such as MPO and arginases. ...

Identification of a neutrophil-specific PIK3R1 mutation facilitates targeted treatment in a patient with Sweet syndrome

The Journal of clinical investigation

... Phenotypes A and B, considered classic, include a higher prevalence of oligo-amenorrhea and clinical signs of hyperandrogenism, such as acne, consistent with the previous literature [29]. In studies conducted in Latin American countries, the most prevalent phenotypes in samples with a mean age similar to our study are A and B [31], presenting as overweight and with hypertriglyceridemia, in agreement with the findings of our research. ...

Letter to the Editor From Singh et al: “Female Adult Acne and Androgen Excess: A Report from the Multidisciplinary Androgen Excess and PCOS Committee”

Journal of the Endocrine Society

... Professional societies, such as the Skin of Color Society, were created. The American Academy of Family Physicians, the Journal of American Academy of Dermatology, VisualDx, and others have all generated databases of images with clinical findings on skin of color for health professionals to access quickly and easily online [12][13][14]. Homegrown online databases have proliferated through social media, including the Instagram account Brown Skin Matters (@brownskinmatters) [15]. ...

Skin of Color Representation in Dermatology Atlases
  • Citing Article
  • August 2022

Journal of the American Academy of Dermatology

... Furthermore, our hospital conferences are presented via an 'unknowns' style presentation, which is a format that has been previously noted to be particularly effective in dermatology education. 5 It is also believed that physician-learners appreciate three specific qualities in clinical learning: case-based format, an aspect of problem-solving and practical learning points. 6 Our hospital conference presenters aim to incorporate these qualities in each case presentation, which may also increase the impact of this educational activity on audience satisfaction. ...

Lessons That Are Never Forgotten-The Unknown Session
  • Citing Article
  • June 2022