The latest medical research on Dermatology

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about dermatology gathered by our medical AI research bot.

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Dysregulation of CCN3 (NOV) expression in the epidermis of Systemic Sclerosis patients with pigmentary changes.

Pigment Cell and Melanoma Research

Systemic Sclerosis (SSc) is a severe disease whose pathophysiology remains partly unknown, combining auto-immune, vascular and fibrotic features. R...

Epidemiology of cutaneous sebaceous carcinoma.

Australasian Journal of Dermatology

There has been uncertainty about the demographics and anatomical distribution of cutaneous sebaceous carcinoma. This study aims to investigate thes...

Intracellular signaling modules linking DNA damage to secretome changes in senescent melanoma cells.

Melanoma Research

Cellular senescence is a major barricade on the path of cancer development, yet proteins secreted from senescent cells exert complex and often disc...

Staging 18F-FDG PET/CT influences the treatment plan in melanoma patients with satellite or in-transit metastases.

Melanoma Research

Whole-body positron emission tomography/computed tomography (PET/CT) and brain magnetic resonance imaging (MRI) are commonly used to stage patients...

A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics.

British Journal of Dermatology

Discovering the genetic basis of inherited skin diseases is fundamental to improving diagnostic accuracy and genetic counselling. In the 1990s and 2000s, genetic linkage and candidate gene approaches led to the molecular characterisation of several dozen genodermatoses, but over the past decade the advent of next-generation sequencing (NGS) technologies has accelerated diagnostic discovery and precision.

This review examines the application of NGS technologies from 2009 to 2019 that have (a) led to the initial discovery of gene mutations in known or new genodermatoses and (b) identified more than one contributing pathogenic gene involvement in individuals with complex Mendelian skin disorder phenotypes.

A comprehensive review of the PubMed database and dermatology conference abstracts was undertaken between January 2009 to December 2019, collated and cross-referenced with OMIM.

We identified 166 new disease-gene associations in inherited skin diseases discovered by NGS. Of these, 131 were previously recognised, while 35 were brand new disorders. Eighty-five were autosomal dominant (with 43/85 mutations occurring de novo); 78 were autosomal recessive; and 3 were X-linked. We also identified 63 cases harbouring multiple pathogenic mutations, either involving two co-existing genodermatoses (n = 13) or an inherited skin disorder in conjunction with other organ system phenotypes (n = 50).

NGS technologies have accelerated disease-gene discoveries in dermatology over the last decade. Moreover, the era of NGS has enabled clinicians to split complex Mendelian phenotypes into separate diseases. These genetic data improve diagnostic precision and make feasible accurate prenatal testing and better-targeted translational research.

Incidence and outcome of Spitzoid Tumour of Unknown Malignant Potential (STUMP). An analysis of cases in the Netherlands from 1999 till 2014.

British Journal of Dermatology

Spitz naevi are spindle and epithelioid cell melanocytic proliferations that Sophie Spitz first described in 1948 as "juvenile melanomas" [1]. The ...

Biopsy Outperforms Reflectance Confocal Microscopy in Diagnosing and Subtyping Basal Cell Carcinoma: Results and Experiences from a Randomized Controlled Multicentre Trial.

British Journal of Dermatology

Reflectance confocal microscopy (RCM) is a non-invasive method for skin assessment, allowing entire lesion evaluation up to the papillary dermis. Therefore, RCM is a potentially attractive alternative to punch biopsy in basal cell carcinoma (BCC).

This randomized controlled trial aimed to investigate RCM as alternative to punch biopsy in a real-world clinical setting. Primary objective was to determine the diagnostic accuracy of RCM compared to punch biopsy in diagnosing and subtyping BCC. Secondary objectives were to study related patient satisfaction and preferences.

Patients with a clinically suspected primary BCC were randomized between RCM and biopsy. Conventional surgical excision or follow-up were used as reference. Sensitivity and specificity for BCC diagnosis and subtyping were calculated for both methods. BCC subtype was stratified based on clinical relevance: aggressive (infiltrative/micronodular) versus non-aggressive (superficial/nodular) histopathological subtype and superficial versus non-superficial BCC. Data on patient satisfaction and preferences werecollected using a questionnaire and a contingent valuation method.

Sensitivity for BCC diagnosis was high and similar for both methods (RCM 99.0% versus biopsy 99.0%, p=1.00). Specificity for BCC diagnosis was lower with RCM (59.1% versus 100.0%, p<0.001). Sensitivity for aggressive BCC subtypeswas lower for RCM (33.3% versus 77.3%, p=0.003). Sensitivity for non-superficial BCC was not significantly different (RCM 88.9% versus biopsy 91.0%, p=0.724). Patient satisfaction and preferences were good and highly comparable for both methods.

Biopsy outperforms RCM in diagnosing and subtyping clinically suspected primary BCC. This outcome does not support routine clinical implementation of RCM, as a replacement of punch biopsies in this patient group.

Role of regulatory T cells in psoriasis pathogenesis and treatment.

British Journal of Dermatology

Psoriasis is a chronic inflammatory disease with a strong genetic component that can be triggered by environmental factors. Disease pathogenesis is...

Establishment of a Mouse Model for Post-Inflammatory Hyperpigmentation.

Pigment Cell and Melanoma Research

Post-inflammatory hyperpigmentation (PIH) is a common cutaneous condition that can cause a disfigured appearance. However, the pathophysiology of P...

Validation of the diagnostic criteria for segmental vitiligo.

Indian Journal of Dermatology, Venereology

Segmental vitiligo has a different clinical course and prognosis as compared to nonsegmental vitiligo, which necessitates its correct diagnosis. It may be difficult to distinguish segmental vitiligo from the limited or focal types of nonsegmental vitiligo.

To validate the previously proposed diagnostic criteria for segmental vitiligo.

This was a cross-sectional validation study involving patients with limited vitiligo. The diagnostic criteria were used to classify vitiligo lesions as segmental or nonsegmental, and was compared with the experts' diagnosis, which was considered as the "gold standard".

The study included 200 patients with 225 vitiligo lesions. As per the diagnostic criteria, 146 vitiligo lesions were classified as segmental and 79 as nonsegmental. The experts classified 147 vitiligo lesions as segmental and 39 as nonsegmental, while the diagnosis either was labeled "unsure" or could not be agreed upon for 39 lesions. As compared with the experts' opinions ("for sure" cases, n = 186), the sensitivity and specificity of the diagnostic criteria was 91.8% (95% confidence interval [CI]: 86.2%-95.7%) and 100% (95% CI: 91%-100%), respectively. The positive predictive value was 100% (95% CI: 97.3-100%), while the negative predictive value was 76.5% (95% CI: 62.5%-87.2%). There was a 93.5% agreement between the clinical criteria and experts' opinions (k = 0.83, P < 0.001).

The diagnostic criteria were compared with the experts' opinion in the absence of an established diagnostic "gold standard".

The proposed diagnostic criteria for segmental vitiligo performed well, and can be used in clinical practice, as well as in research settings.

A study into the drug dupilumab in Japanese adults with moderate-to-severe atopic dermatitis.

British Journal of Dermatology

Atopic dermatitis (AD), a long-lasting skin disease characterized by intense itching and dry, red, swollen and cracked skin, affects between 2% and...

Dermatological Toxicities of Bruton's Tyrosine Kinase Inhibitors.

American Journal of Clinical Dermatology

The development of Bruton's tyrosine kinase (BTK) inhibitors represents a major breakthrough in the treatment of chronic lymphocytic leukemia and o...