Advances in treatment for lipoid proteinosis (Urbach-Wiethe disease): a case report and systematic review.

BACKGROUND: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis, caused by mutations in the ECM1 gene. This results in the deposition of periodic acid-Schiff (PAS)-positive, hyaline-like material on the skin, mucosae and internal organs. OBJECTIVES: To present a case report of LP and a systematic review to synthesize the scientific literature on the management of this uncommon and frequently missed diagnosis. METHODS: We present a case report of a 48-year-old man with LP who exhibited significant improvement after oral acitretin therapy. To address the lack of large case-control studies on LP treatment, we performed a systematic review of the literature following the PRISMA 2020 criteria. The search was conducted in PubMed, Web of Science, Cochrane and Scopus databases from inception until June 2023. To assess the methodological quality of case reports and case series, we used the Joanna Briggs Collaboration critical appraisal tool. RESULTS: We included 25 studies that met eligibility criteria. Data from 44 patients with a histopathologically confirmed diagnosis were analysed. Treatment ranged from systemic therapies (acitretin, etretinate, dimethyl sulfoxide, corticosteroids, penicillamine) to surgical or laser procedures. Regarding methodological quality, the main discrepancies arose in the reporting of participant characteristics and treatment interventions. CONCLUSIONS: Low-dose oral acitretin could have potential in managing LP, exhibiting fewer side-effects compared with other therapeutic agents. Further research is needed to establish more comprehensive and evidence-based treatment guidelines.

Brodalumab for moderate-severe hidradenitis suppurativa: An open-label multicentric cohort study in real clinical practice.

INTRODUCTION: The use of biological therapy is becoming increasingly common in patients with hidradenitis suppurativa (HS). Levels of serum TNF-alfa and IL17 support the role of an immune system dysregulation in the pathogenesis of HS. Brodalumab targets the receptor A of IL-17, thus having a promising role in the treatment of HS. MATERIAL AND METHODS: A multicenter retrospective observational open-label study was conducted in two tertiary hospitals. Adults with moderate to severe HS under treatment with brodalumab 210 mg at week 0, 1, 2 and then every 2 weeks were included and assessed at weeks 0 and 16 which was the median follow-up time. Demographic and disease-related variables as well as response parameters (HiSCR and IHS4) and safety data were recorded and analysed. RESULTS: A total of 16 patients (75% males) were included in our study. 50% of patients presented an inflammatory phenotype and mean BMI was 28.37. HiSCR was achieved in 50% of patients and mean IHS4 decreased from 24.13 to 16.81 (p = 0.002). No differences were found between those who achieved HiSCR and those who did not. Grade 2 adverse events were reported in three patients with no fatal outcomes and treatment discontinuation was advised in four patients. CONCLUSIONS: Brodalumab seems to be effective and safe in patients with moderate to severe HS, even in those that did not respond to adalimumab, which, at the moment, is the only widely approved biologic for this indication. Thus, it stands as an interesting option for the treatment of HS.

Quantitative collagen analysis using second harmonic generation images for the detection of basal cell carcinoma with ex vivo multiphoton microscopy.

Basal cell carcinoma (BCC) is the most common skin cancer, and its incidence is rising. Millions of benign biopsies are performed annually for BCC diagnosis, increasing morbidity, and healthcare costs. Non-invasive in vivo technologies such as multiphoton microscopy (MPM) can aid in diagnosing BCC, reducing the need for biopsies. Furthermore, the second harmonic generation (SHG) signal generated from MPM can classify and prognosticate cancers based on extracellular matrix changes, especially collagen type I. We explored the potential of MPM to differentiate collagen changes associated with different BCC subtypes compared to normal skin structures and benign lesions. Quantitative analysis such as frequency band energy analysis in Fourier domain, CurveAlign and CT-FIRE fibre analysis was performed on SHG images from 52 BCC and 12 benign lesions samples. Our results showed that collagen distribution is more aligned surrounding BCCs nests compared to the skin's normal structures (p < 0.001) and benign lesions (p < 0.001). Also, collagen was orientated more parallelly surrounding indolent BCC subtypes (superficial and nodular) versus those with more aggressive behaviour (infiltrative BCC) (p = 0.021). In conclusion, SHG signal from type I collagen can aid not only in the diagnosis of BCC but could be useful for prognosticating these tumors. Our initial results are limited to a small number of samples, requiring large-scale studies to validate them. These findings represent the groundwork for future in vivo MPM for diagnosis and prognosis of BCC.

Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism.

Oculocutaneous albinism (OCA) is a genetic disease caused by disorders in melanin synthesis or distribution. In this descriptive study conducted in a tertiary care pediatric hospital, patients with a clinical diagnosis of OCA and genetic study were retrospectively recruited and underwent dermatological and ophthalmological exam, including optical coherence tomography (OCT) and digital dermoscopy. Our findings revealed milder OCA phenotypic expression in individuals harboring single pathogenic mutations in conjunction with polymorphisms, as well as in those with mutations of uncertain significance. Regardless OCA subgroup, severe phenotypes of OCA were associated with a higher number of mutations/polymorphisms in melanin biosynthesis genes and paler dermoscopic patterns, such as vascular pattern, which was the most common pattern in our series.

"Sky Full of Stars" Pattern: Dermoscopic Findings in a Desmoplastic Giant Congenital Melanocytic Nevus.

Desmoplastic giant congenital melanocytic nevus (DGCN) is an uncommon variant of congenital nevus, presenting as a progressive induration and hypopigmentation of the lesion that occasionally causes hair loss and even total or partial disappearance of the nevus. A 6-month-old girl with a giant congenital melanocytic nevus that involved the entire posterior side of the right thigh was seen in our department. Nine months later, the peripheral area of the nevus presented as a marked induration with hypopigmentation. Dermoscopy demonstrated a reticular pattern exclusively located in the perifollicular areas, with a radial distribution from the follicular ostium that mimicked a "sky full of stars." We report a case of DGCN, including a dermoscopic description of the findings noted in the indurated and hypopigmented areas that appear as a "sky full of stars" image.

Skin cancer mortality in Spain: adjusted mortality rates by province and related risk factors.

BACKGROUND: Ultraviolet radiation is the main environmental risk factor responsible for the development of skin cancer. Other occupational, socioeconomic, and environmental factors appear to be related to the risk of skin cancer. Furthermore, the factors appear to differ for melanoma and non-melanoma skin cancer (NMSC). The purpose of this study is to analyze mortality rates of skin cancer in the different provinces of Spain and to determine the influence of socioeconomic conditions and other environmental and demographic factors in rates. METHODS: Deaths from melanoma and NMSC in the period 2000-2019 were obtained as well as socioeconomic and environmental variables. Annual standardized mortality rates (SMR) were calculated for all Spanish provinces. The Pearson correlation coefficient was calculated. RESULTS: The SMR of melanoma was 2.10/100,000 inhabitants, while that of NMSC was 1.28/100,000. At the provincial level, a great variability is confirmed. Gross domestic product showed a positive correlation with melanoma mortality but a negative correlation with NMSC. Other environmental and socioeconomic variables also showed correlation, as a positive correlation between tobacco sales and melanoma and between agricultural development and the NMSC. CONCLUSIONS: There are still important differences between each province that must be taken into account when planning health care and resource distribution. This ecological and province-wise study helps to elucidate the relationship between social and ambient exposure determinants and skin cancer mortality in Spain.

Hidradenitis suppurativa and suicide risk: a multivariate analysis in a disease with a high psychological burden.

BACKGROUND: Hidradenitis suppurativa (HS) is a disorder that can lead to serious sequelae and important comorbidities. It has been associated with different mental health conditions, such as depression, anxiety or completed suicide. The objective is to analyze the suicide risk (SR) among patients in a monographic HS consultation, as well as to establish individual association factors. METHODS: Patients older than 18 years seen in our specific HS unit were consecutively included and invited to respond to the self-administered Beck hopelessness scale. Those patients with significant intellectual disabilities or severe mental health conditions, including a history of psychosis, were excluded. In addition, data related to the skin process were collected. Subsequently, it was studied whether there were significant differences between patients with absent-mild SR and those with moderate-severe SR and a logistic regression analysis was performed to determine the relationship of these variables with SR. RESULTS: A total of 136 patients were included in the study, 51.5% men. Of them, 21.3% presented a moderate or severe SR (score ≥ 9 in the Beck test). This risk was significantly related to having a previous or concomitant psychiatric disorder (OR = 2.586, 95% CI 1.044-6.409, p = 0.040) followed by the history of biological treatment (OR = 2.867, 95% CI 1.004-8.182, p = 0.049). The existence of other affected relatives was confirmed as a protective factor (OR = 0.377, 95% CI 0.150-0.951, p = 0.039). CONCLUSIONS: The prevalence of SR in patients with HS is higher than that of the general Spanish population. The presence of a psychiatric disorder and the need for biological treatment are established as factors that increase SR, both of which can be interpreted as a more advanced disease. As a protective factor, the presence of other cases in the family is established, which suggests a greater normalization of the disease.

Classification of Basal Cell Carcinoma in Ex Vivo Confocal Microscopy Images from Freshly Excised Tissues Using a Deep Learning Algorithm.

Ex vivo confocal microscopy (EVCM) generates digitally colored purple-pink images similar to H&E without time-consuming tissue processing. It can be used during Mohs surgery for rapid detection of basal cell carcinoma (BCC); however, reading EVCM images requires specialized training. An automated approach using a deep learning algorithm for BCC detection in EVCM images can aid in diagnosis. A total of 40 BCCs and 28 negative (not-BCC) samples were collected at Memorial Sloan Kettering Cancer Center to create three training datasets: (i) EVCM image dataset (663 images), (ii) H&E image dataset (516 images), and (iii) a combination of the two datasets. A total of seven BCCs and four negative samples were collected to create an EVCM test dataset (107 images). The model trained with the EVCM dataset achieved 92% diagnostic accuracy, similar to the H&E model (93%). The area under the receiver operator characteristic curve was 0.94, 0.95, and 0.94 for EVCM-, H&E-, and combination-trained models, respectively. We developed an algorithm for automatic BCC detection in EVCM images (comparable accuracy to dermatologists). This approach could be used to assist with BCC detection during Mohs surgery. Furthermore, we found that a model trained with only H&E images (which are more available than EVCM images) can accurately detect BCC in EVCM images.

Picadura de la araña reclusa / Bite of recluse spider

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Sarcoidosis cutánea cicatricial en lugares de punción venosa y subcutánea / Cutaneus Scar sarcoidosis on venous and subcutaneous puncture areas

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Centenario de Actas Dermo-Sifiliográficas / Centenary of Actas Dermo-Sifiliográficas

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