Rationale: Sirolimus is a treatment for slow-flow vascular malformations (SFVMs). However, the long-term management remains challenging.
Objectives: The SIROLO study assessed the long-term effects and real-life management of oral sirolimus for SFVMs by investigating data from 15 French tertiary centres for vascular anomalies.
The purpose of the study is to highlight clinical signs that are either suggestive of or against the diagnosis of AHEI to improve diagnosis and management. The medical records of children under 3 years old diagnosed with AHEI were retrospectively reviewed. Clinical data and photographs were reviewed by three independent experts, and the cases were classified as probable, doubtful, or unclear AHEI.
View Article and Find Full Text PDFBackground/objectives: We observed isolated cases of perialar intertrigo in children and teenagers that did not appear to correspond to any known clinical entity. The objective of this study was to describe the clinical features of this dermatosis and the clinical characteristics of the patients.
Methods: We conducted a prospective, multicenter cohort study in France from August 2017 to November 2019.
Percutaneous sclerotherapy is used to treat venous and lymphatic vascular malformations, which can cause significant discomfort and/or disfigurement. The purpose of this study is to describe the bleomycin sclerotherapy technique and to evaluate its clinical and radiological efficacy and safety. We retrospectively identified consecutive patients with venous malformations (VMs) and lymphatic malformations (LMs) who underwent bleomycin sclerotherapy in 2011-2020 at our institution.
View Article and Find Full Text PDFObjectives: The occurrence of immune-related myositis (irM) is increasing, yet there are no therapeutic guidelines. We sought to analyse the current therapeutic strategies of irM and evaluate the outcomes of immune checkpoint inhibitors (ICIs) rechallenge.
Methods: We conducted a nationwide retrospective study between April 2018 and March 2020 including irM without myocardial involvement.
Objective: Immune checkpoint inhibitors (ICIs) for cancer therapy frequently induce immune-related adverse effects (IRAEs). Therefore, most patients with preexisting autoimmune diseases have been excluded from clinical trials of ICIs. This study was undertaken to evaluate the safety and efficacy of ICIs in patients with preexisting autoimmune disease and cancer.
View Article and Find Full Text PDFWe report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes.
View Article and Find Full Text PDFWe report dermoscopic characteristics of cutaneous capillary malformations in four patients with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. We observed a mixed vascular and pigmentary pattern with branched linear vessels and an underlying homogeneous brown background. Disappearance of the vascular pattern on pressure revealed an underlying faint pigmentary reticular pattern.
View Article and Find Full Text PDFAm J Surg Pathol
March 2016
Melanomas associated with blue nevi (MABN) or mimicking cellular blue nevi (MMCBN) represent exceptional variants of malignant cutaneous melanocytic tumors. Uveal and leptomeningeal melanomas frequently have somatic mutations of GNAQ or GNA11, which are believed to be early driver mutations. In uveal melanomas, monosomy 3, linked to the BAP1 gene, is an adverse prognostic factor.
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