Background: Chronic spontaneous urticaria (CSU) is a highly prevalent and difficult to manage cutaneous disease characterized by the presence of recurrent urticaria, angioedema, or both, for a period of 6 weeks or longer. One of the biological treatments used for patients with CSU with an autoimmune background and bad control of the disease is omalizumab, an anti-IgE monoclonal antibody. The understanding of the mechanism of action of this biological drug in CSU along with the identification of potential biomarkers of clinical response can be helpful in the personalized management of the disease.
View Article and Find Full Text PDFLinear Cowden nevus, also known as linear PTEN nevus, is a type of epidermal nevus, first described in 2007, which is seen in patients with PTEN hamartoma tumor syndrome. It is considered to be a type 2 form of segmental mosaicism, and we suggest that it has certain clinical features that distinguish it from epidermal nevi seen in similar conditions, such as Proteus syndrome. We present a case of linear Cowden nevus in a 4-year-old boy and review the literature.
View Article and Find Full Text PDFJ Eur Acad Dermatol Venereol
September 2022
Background: Neurofibromatosis type 2 (NF2) is a genetic disease characterized by the appearance of multiple tumours in the nervous system. Cutaneous lesions are common and may provide useful diagnostic and prognostic information, but they have not been widely studied.
Objectives: To characterize cutaneous lesions in a Spanish cohort of patients with NF2 and investigate associations with clinical and genetic severity.
Unlabelled: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in Recently, testing has been included as a clinical criterion for NF1 diagnosis. Additionally, preconception genetic counselling in patients with NF1 focuses on a 50% risk of transmitting the familial variant as the risk of having a sporadic NF1 is considered the same as the general population.
Methods: 829 individuals, 583 NF1 sporadic cases and 246 patients with NF1 with documented family history, underwent genetic testing for NF1.
Background: Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by the development of multiple schwannomas, especially on vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) is useful to predict the progression of the disease from germline pathogenic variants, which allows the clinical follow-up and the genetic counselling offered to affected families to be optimised.
Methods: 52 Spanish patients were classified using the GSS, and patients' clinical severity was measured and compared between GSS groups.
Background: Confusion exists regarding interstitial granulomatous dermatitis (IGD) and palisaded neutrophilic and granulomatous dermatitis (PNGD).
Objective: To determine whether IGD and PNGD are two different entities, or whether they must be considered as two subtypes of the same reactive pattern, and thus whether the unification of the nomenclature is necessary.
Methods: Observational retrospective multicentre study of patients with IGD and PNGD evaluated between 1999 and 2019 and review of their clinical and histological features.
Background And Objectives: Cutaneous polyarteritis nodosa (CPAN) is a comparatively rare form of vasculitis that affects small arteries and arterioles in the panniculus and dermo-subcutaneous junction. Limited information is available regarding its course in the European population. The aim of this study is to characterize the manifestations and prognostic markers of recurrence in CPAN.
View Article and Find Full Text PDFBackground: Dermatophytoses in children are common pathologies worldwide caused mainly by Trichophyton rubrum. However, due to the globalization and the atypical pets that people nowadays own, some zoonotic species are also involved in these lesions.
Case Report: We present two cases of tinea faciei caused by the zoonotic mould Trichophyton erinacei in two children that owned a guinea pig and a hedgehog, respectively.
Actas Dermosifiliogr (Engl Ed)
November 2020
The coronavirus 2019 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus2 (SARS-CoV-2), has had enormous health, economic, and social consequences. The clinical spectrum of cutaneous manifestations observed in patients with COVID-19 is both heterogeneous and complex. To date, reports have identified 5main categories: acral lesions, vesicular rashes, urticarial rashes, maculopapular rashes, and livedoid and necrotic lesions.
View Article and Find Full Text PDFBackground: Clinical and pathologic criteria to distinguish drug-induced subacute lupus erythematosus (DI-SCLE) from idiopathic (I-SCLE) are controversial.
Objective: The aim of the survey was a retrospective analysis of a consistent number of iatrogenous and idiopathic SCLE cases, by means of clinical and histopathologic investigation.
Methods: Eleven European university dermatology units collected all diagnosed cases from January 2000 to December 2016.
Actas Dermosifiliogr (Engl Ed)
September 2018
Background And Objective: Primary cutaneous lymphomas are uncommon. This article describes the Primary Cutaneous Lymphoma Registry of the Spanish Academy of Dermatology and Venereology (AEDV) and reports on the results from the first year.
Patients And Methods: Disease registry for patients with primary cutaneous lymphoma.
Importance: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2.
View Article and Find Full Text PDFPediatric Nuclear Medicine (PNM) offers to the pediatrician noninvasive procedures, with high clinical impact and low dosimetry. New techniques have been adapted to children, diminishing doses, always looking for less dosimetry, higher sensitivity and higher resolution images. PNM is and will remain a minority subspecialty, but highly complex for general NM physicians due to the different diagnostics in children and due to the higher technical complexity of the examinations.
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