Search Results (3)

Hidradenitis Suppurativa (HS) is a chronic inflammatory skin disease of the pilosebaceous unit, clinically consisting of painful nodules, abscesses, and sinus tracts mostly in, but not limited to, intertriginous skin areas. HS can be defined as a complex skin disease with multifactorial etiologies, including—among others—genetic, immunologic, epigenetic, and environmental factors. Based on genetic heterogeneity and complexity, three different forms can be recognized and considered separately as sporadic, familial, and syndromic. To date, several genetic variants associated to disease susceptibility, disease-onset, and/or treatment response have been reported; some of these reside in genes encoding the gamma-secretase subunits whereas others involve autoinflammatory and/or keratinization genes. The aim of this perspective work is to provide an overview of the contribution of several genetic studies encompassing family linkage analyses, target candidate gene studies, and -omic studies in this field. In our viewpoint, we discuss the role of genetics in Hidradenitis suppurativa considering findings based on Sanger sequencing as well as the more recent Next Generation Sequencing (i.e., exome sequencing or RNA Sequencing) with the aim of better understanding the etio-pathogenesis of the disease as well as identifying novel therapeutic strategies. Full article

There is increasing evidence of adverse events associated with the use of COVID-19 vaccines. Here, we report a case of the SARS-CoV-2-vaccination-related onset of pityriasis rubra pilaris (PRP) and provide an analysis of previously reported cases in the medical literature. A 67-year-old male presented with a 1-year history of histopathologically proven PRP that first developed 14 days after receiving a COVID-19 booster vaccination. Skin symptoms improved under ustekinumab medication after unsuccessful previous treatment approaches using systemic corticosteroids, brodalumab, and risankizumab. Among the published cases of post-COVID vaccination PRP, 12 (75%) males and 4 (25%) females were reported. The median age of the reported patients was 59 years. In 10 out of 16 patients (62.5%), PRP was diagnosed after the first vaccine dose, in 4 (25%) after the second dose, and in 2 of 15 patients (12.5%) after the third dose. The median time between COVID-19 vaccination and the onset of PRP was 9.5 days (range: 3–60 days). The majority of patients required systemic treatment, including systemic retinoids and methotrexate. PRP might be a rare adverse event after COVID-19 vaccination, particularly affecting older males. Even though most reported patients with COVID-19-vaccination-related PRP could be successfully treated with PRP standard medications, therapy refractory cases may also occur. Thus, clinicians must be aware of this rare but potentially severe complication. Full article

Generalized pustular psoriasis (GPP) is a severe, relapsing, immune-mediated disease characterized by the presence of multiple sterile pustules all over the body. The exact pathomechanisms behind GPP remain elusive, although increased interest in the genetic basis and immunological disturbances have provided some revealing insights into the underlying signaling pathways and their mutual interaction. The genetic background of GPP has been thoroughly investigated over the past few years. The conducted studies have identified genetic variants that predispose to pustular forms of psoriasis. The loss-of-function mutation of the interleukin 36 receptor antagonist gene, along with rare gain-of-function mutations in the gene that encodes the keratinocyte signaling molecule (CARD14), are examples of the uncovered abnormalities. Interleukin 36 (IL-36), along with neutrophils, is now considered a central cytokine in GPP pathogenesis, with IL-36 signaling providing a link between innate and adaptive immune responses. More recently, a new concept of inflammation, caused by a predominantly genetically determined abnormal activation of innate immune response and leading to inflammatory keratinization, has arisen. GPP is currently considered a representative of this novel group of skin conditions, called autoinflammatory keratinization diseases. As no therapeutic agents have been approved for GPP to date in the United States and Europe, the novel anti-IL-36R antibodies are particularly promising and may revolutionize management of the disease. Full article