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Plexiform neurofibromas (PNFs) occur in 20-50 % of NF1 patients and can alter skin appearance and/or invade adjacent structures. These tumors grow rapidly in childhood, leading to significant morbidity. Surgical treatment is recommended as first-line therapy, but complete resection is not always possible, and the risk of recurrence is high. Selumetinib is a selective inhibitor of MEK protein kinases that has been shown to reduce PNF tumor volume. It has been approved as monotherapy for the treatment of symptomatic inoperable PNF in children aged over 3 years. The aim of our study was to investigate the real-life efficacy and safety profile of selumetinib in a single-center cohort of NF1 patients with one or more symptomatic inoperable PNFs. Prior to treatment, patients underwent cardiac ultrasound, ophthalmological examination, biological tests, and baseline magnetic resonance imaging (MRI). Specific patient follow-up included a quarterly consultation (with comparative pictures) and a monthly teleconsultation for the first 4 months to discuss any adverse effects, give advice, and provide support to patients and their families. Monitoring included biological, ophthalmological, cardiological and radiological assessment. From a pediatric NF1 cohort of over one hundred children, we included 10 patients over the age of 18 months (median age 14 years - range 5 to 17 years). Morbidities engendered by PNFs were disfigurement (50 %), pain (30 %), visual impairment (20 %) (mainly amblyopia), hearing impairment (10 %), and balance disorders (10 %). Selumetinib was administered at a dose of 25 mg/m2/day. After a median follow-up period of 19.5 months (±6.6 months), tumor volume shrinkage was observed clinically in 6 cases, stability in 2 cases, and volume growth in 2 cases. Adverse events were mainly cutaneous (70 %), with acneiform rashes (60 %), xerosis cutis (20 %), alopecia (20 %), paronychia (10 %) and eczematous rash (10 %). Four patients (40 %) presented gastrointestinal disorders at the start of treatment. All these effects corresponded to grade 1 toxicity. No ocular or cardiac toxicity was detected. Our efficacy results at 19.5 months for selumetinib show a genuine but modest reduction in PNF volume. The treatment has a good safety profile. While it is very common for adverse events to be reported at the start of treatment, they are of moderate severity and are managed by dose reduction or simple symptomatic treatment. Starting treatment early in life appears to lead to a more favorable outcome and should be considered.

Programmed cell death protein (PD)-1 inhibitors can be initiated for stage IIB-IIC melanomas after complete surgical resection following marketing authorization, to reduce the risk of recurrence later in the disease course. A year after this significant change to our therapeutic arsenal in France, we reflect on how this earlier initiation of immunotherapy may influence the practice of the sentinel lymph node biopsy (SLNB) and the overall staging of melanomas, particularly in an era where SLNB is increasingly considered outdated. The aim of this study is to compare the incidence of de novo IIB-IIC-III melanoma between 2021/2022 and 2023, and to examine the relationship between the stage III incidence and the number of SLN procedures to determine whether this therapeutic change has impacted melanoma staging practices. We conducted a retrospective cohort study of 1158 de novo melanomas stage IIB-IIC and III diagnosed between 2021 and 2023. Data were extracted from the RICMEL database, a French, multicenter melanoma registry. The incidence of SLNB dropped significantly following the marketing authorization of adjuvant anti-PD-1 therapy, decreasing from 59.1&#x202f;% in 2021/2022 to 38.1&#x202f;% in 2023 (p&#x202f;<&#x202f;0.0001). This decline was accompanied by a significant shift in the staging of IIB-IIC-III melanomas. Although prognostic scores or new marketing authorization could suggest performing fewer SLNBs, the reduced use of SLNB due to earlier access to immunotherapy may result in inaccurate melanoma staging, potentially affecting prognosis and treatment decisions.

Genital herpes, caused by Herpes simplex virus (HSV), is a sexually transmitted infection that is the leading cause of genital ulcers in many countries around the world. Although many treatments exist for this condition, their prioritization is often unclear. This study aimed to develop French national recommendations for the treatment of genital herpes in both immunocompetent and immunocompromised (ID) adults, pregnant women (PW), and adolescents. These guidelines were developed by a multidisciplinary working group (WG) following the methodology of the Haute Autorit&#xe9; de Sant&#xe9;. No conflicts of interest were declared. A systematic review (SR) of the literature was conducted using PubMed and Embase, covering publications up to June 1, 2024. The protocol was published in PROSPERO (CRD42023399760) after drafting and submission to a multidisciplinary panel of reviewers. Risks of bias were assessed using various tools. A total of 127 sources were analysed, including randomised controlled trials (RCTs), SRs, and guidelines. Recommendations were formulated for oral, parenteral, and topical treatments. Key management strategies for primary infection and recurrence were summarised in a clinical algorithm. The methodological quality of the included evidence varied, and many studies were dated. Data gaps were identified for specific populations, particularly PW and ID. These new French guidelines provide updated, evidence-based recommendations derived from a systematic review for the management of genital herpes across diverse populations and clinical scenarios.

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder described more than 150&#x202f;years ago in which calcification and fragmentation of the elastic fibers result in a variety of symptoms which differ greatly in presentation and severity between patients. The diagnosis of PXE can still be made in many patients based on clinical presentation. However, in the advent of genetic screening that followed upon the identification of the first causal gene, ABCC6, milder cases of PXE or patients with a less typical onset of disease surfaced. Moreover, it became clear in the last years that PXE has at least one allelic disorder which can also result from (identical) ABCC6 or ENPP1 pathogenic variants, namely generalized arterial calcification of infancy (GACI). These recent evolutions lead to challenges in making the correct diagnosis in a given number of patients. As emerging possibilities to treat PXE require a definite diagnosis, a critical re-appraisal of the diagnostic criteria for PXE - taking into account new clinical, biochemical and molecular characteristics - appeared to be necessary. The REACT-PXE (Research, Education and Advanced Care Teams for PXE) Consortium - gathering most European experts on PXE - has been established to take on this task as a first step in updating the management of PXE. This paper presents an updated, evidence-based definition of PXE, revised diagnostic criteria, "red flags" for considering PXE, and a patient-centered approach to identifying meaningful outcomes. All skin, ocular, vascular and other disease manifestations are addressed and illustrated, followed by specific chapters on molecular genetics and biological alterations. All these efforts are designed to improve disease management, consider future treatment for all patients, with or without molecular definition of their condition, enhance patient care, and inform for future research directions.

Alleviating sleep disturbances is a key therapeutic goal in pruritic dermatoses. However, sleep disturbance remains under-investigated in patients with bullous pemphigoid (BP), despite contributing to exhaustion in older adults and potentially increasing disease morbidity. To estimate the prevalence and severity of insomnia in BP patients, and examine its correlation with disease activity, self-rated pruritus, and quality of life (QoL). A national, multicenter, controlled study in 61 BP patients and 61 age- and sex-matched controls. Insomnia severity was assessed via the Insomnia Severity Index (ISI), BP activity via the Bullous Pemphigoid Disease Area Index (BPDAI), and QoL via the Autoimmune Bullous Disease Quality of Life (ABQOL) and ItchyQoL scores. Pruritus severity was rated using a numerical scale (NRS-pruritus). All assessments were repeated after one month of treatment. Significant sleep disorders (ISI&#x202f;&#x2265;&#x202f;15) were observed in 34.4&#x202f;% of cases and 8.5&#x202f;% of controls (RR: 4.04; 95&#x202f;% CI: 1.64-10.06; p&#x202f;=&#x202f;0.0025). Significant sleep disorder was associated with higher ItchyQoL, ABQOL, and NRS-pruritus scores. However, the ItchyQoL score was the only independent factor (OR&#x202f;=&#x202f;1.13; 95&#x202f;% CI: 1.02-1.25). After one month of treatment, significant insomnia decreased by 56.2&#x202f;% compared to baseline (p&#x202f;<&#x202f;0.001). BP is associated with a four-fold risk of insomnia compared to age- and sex-matched controls. Screening for insomnia and promoting sleep quality should be part of BP treatment strategies.

Xeroderma pigmentosum (XP) is a disorder characterized by defective DNA repair, leading to the early development of cutaneous malignancies, including cutaneous squamous cell carcinomas (cSCC). The management of locally advanced and metastatic cSCC in XP patients is particularly challenging, primarily due to the risk of major surgical sequelae and the hazardous use of radiotherapy. This study aims to evaluate the efficacy and safety of anti-PD1 immunotherapy in XP patients with unresectable cSCC in Mayotte and R&#xe9;union Island and to conduct a literature review. This retrospective multicenter study included XP patients treated with anti-PD1 for advanced or metastatic inoperable cSCC between June 2023 and February 2025. The efficacy and safety of the treatment were assessed based on clinical, biological, and radiological data from patient records. A literature review of similar cases was also conducted. Four XP patients, with a median age of 16&#x202f;years, were treated with immunotherapy for cSCC or sarcomatoid carcinoma, achieving rapid and complete tumour regression in all cases. No major adverse effects were reported. The literature review identified 14 additional cases, including 7 complete responses and 6 partial responses. Anti-PD1 therapy is effective in XP patients with advanced cSCC, offering a therapeutic alternative to surgery. These findings raise the question of earlier neoadjuvant initiation to reduce the risk of major surgical sequelae or prevent metastatic progression.

Systematic dermatological screening for melanomas and non-melanoma skin cancers (NMSCs) before and during treatment with biologics has long been recommended for patients with chronic inflammatory rheumatic diseases (CIRD). To determine the incidence of skin cancers in biologic-treated patients with CIRD and to identify associated risk factors. We retrospectively included all patients with CIRD who initiated biologics and were followed up in the dermatology department at Amiens University Hospital between January 2013 and March 2024. Risk factors were assessed using Cox proportional hazards models. If a significant association between the occurrence of skin cancer occurrence and exposure to therapeutic agent was found in univariate analysis, propensity scores were applied in multivariate analysis. Among the 636 patients screened at biologic initiation, only one skin cancer was detected. Among the 377 patients followed up over a mean (standard deviation) of 5 (3) years, the incidence rates were 10.1/1000 patient-years for NMSCs and 3.7/1000 for melanomas. The most common skin cancers diagnosed were basal cell carcinomas (22/38) with no recurrence after excision. In a univariate analysis, age, rheumatoid arthritis, immunosuppression, exposure to corticosteroids and anti-interleukin 6 were significantly associated with the occurrence of NMSCs. In a multivariate propensity-score-weighted analysis, exposure to these two medications was not significant. Exposure to biologics was not significantly associated with the occurrence of melanoma. Apart from rheumatoid arthritis, the risk factors for skin cancer in biologic-treated patients with CIRD are similar to those observed in the general population. Our findings might lead to more targeted dermatological monitoring.

Therapeutic patient education (TPE) in pediatrics is part of the healthcare pathway, from diagnosis in childhood to adulthood. The COVID-19 pandemic accelerated the development of digital TPE. The framework for digital TPE (e-TPE) remains to be defined. Suggest key points for organizing and running e-TPE programs. A monocentric prospective study was conducted in adolescents with a chronic skin disease, as well as their parents and healthcare professionals participating in an e-TPE program. Participants answered open questions either during a one-on-one session (patients and parents) or via a questionnaire (healthcare professionals). Twenty-three parents were included: eleven adolescents and sixteen healthcare professionals. Parents, patients, and healthcare professionals showed a preference for remote TPE sessions. The familiar home environment facilitates the learning process. However, professional access to privacy can be a source of discomfort. The technical aspect presents a major obstacle for both healthcare professionals and parents. Access to TPE is enhanced by e-tools, which facilitate the participation of parents, expert patient partners, associations, and other professionals. Travel costs and possible scheduling conflicts are easily overcome, further harmonizing care. In this way, remote TPE sessions should enhance the development of the city-hospital network. Importantly, participant age is a key point in terms of screen time (age&#x202f;<&#x202f;6 years), concentration/remobilization in front of a computer screen (age&#x202f;<&#x202f;10&#x202f;years), technical difficulties, and digital illiteracy (across the entire population). Confidentiality, parental information, and invasion of privacy must be considered.

The lichen planus spectrum includes cutaneous, scalp, pigmentary, and nail phenotypes. Topical Janus kinase inhibitors offer targeted treatment with limited systemic exposure. To map and critically appraise clinical, safety, and molecular evidence for topical Janus kinase inhibitors across lichen planus phenotypes. We performed a PRISMA-guided systematic review (PROSPERO CRD420251155683) searching MEDLINE, Embase, Scopus, trial registries, and other sources to 1 November 2025. Human studies of topical JAK inhibitors for cutaneous lichen planus (LP), lichen planopilaris, frontal fibrosing alopecia (FFA), lichen planus pigmentosus (LPPig), or nail lichen planus were included. Risk of bias was assessed, certainty of evidence was graded, and findings were synthesized narratively. Thirteen studies (n&#x202f;=&#x202f;118 patients) and one registry trial were included. In FFA, a phase 2 double-blind, vehicle-controlled trial of delgocitinib 2% cream in 30 patients met its molecular primary endpoint and showed greater clinical improvements than vehicle over 12&#x202f;weeks. Two cohorts reported improvement with topical tofacitinib 2% and topical ruxolitinib 1.5% in scarring alopecia. In cutaneous LP (n&#x202f;=&#x202f;12), an open-label study showed improvement in lesion severity and symptoms with topical ruxolitinib. Evidence for LPPig and nail LP was limited to case reports. Topical JAK inhibitors were well tolerated with infrequent local irritation and no serious adverse events. Topical Janus kinase inhibitors appear promising, well tolerated, and potentially steroid-sparing, particularly in lichen planopilaris and FFA. However, the evidence remains limited, and well-designed vehicle-controlled trials are needed before routine use can be justified.

Auricular keloids can lead to significant aesthetic and functional impairments. Cryosurgery has been described as an adjuvant treatment following excision. We detail this procedure combined with active follow-up, its impact on outcomes, and factors potentially associated with recurrence. This retrospective single-centre study encompassed all patients treated with excision-cryosurgery (ExCS) for auricular keloids from September 2010-March 2021, with outcome data after 2&#x202f;years. The standardized procedure involved excision followed by immediate freezing. Thinning >80% was considered complete remission (CR). Of the 87 patients treated during the period, 61 were included with a total of 79 auricular keloids. With a median follow-up of 30.5&#x202f;months (range 24-148), the CR rate was 90% at the last evaluation. The recurrence rate was 38% (n&#x202f;=&#x202f;30) with a median time of 6&#x202f;months (range 2-68). Most relapses (63%) were controlled using intralesional steroids or vascular laser. The retrospective nature of the study and the number of non-included patients without data at 2&#x202f;years. The recurrence rate after ExCS was comparable to the published series, and the CR rate at the final follow-up was higher, emphasizing the importance of regular follow-up and potential preventive treatments. ExCS is a simple, well-tolerated, effective method for the treatment of auricular keloids.

Anogenital warts (AGW) are benign epithelial skin lesions caused mainly by the human papillomavirus (HPV, types 6 and 11) but are sometimes associated with other oncogenic HPV types. They have a high rate of post-treatment recurrence. There are many guidelines, but they do not prioritise treatments. Therapeutics are classified as either self-administered or clinician applied. The aim of this study was to propose recommendations for the management of AGW. These recommendations were based on a systematic review of the literature by a working group (WG) with no links of interest. The databases used were PubMed and Embase up to 1st June 2024. The risks of bias of the included studies were analysed using the PRISMA, ROBIS, AMSTAR 2, AGREE II, RIGHT and ROB grids. They were assessed by an expert review group using the GRaAL method of the French Health Authority (FHA). A total of 204 studies were selected from 1446 (including randomised clinical trials (RCTs), systematic reviews (SR), non-randomised clinical trials involving more than 30 patients, meta-analyses (MA), and guidelines) by the working group (WG). The methodological quality of the studies varied widely. An algorithm proposing a hierarchy of treatments was developed for the general population, pregnant women, children, immunocompromised patients and for specific sites (urethral, vaginal and anal). Combination therapy has been widely adopted. Despite a lack of data on specific populations and variability in the quality of the studies analysed, these recommendations provide a hierarchy of treatments for AGW based on a systematic review of the literature.

Extramammary Paget's disease (EMPD) is a rare malignant adenocarcinoma with a poor prognosis when invasive or metastatic, and no standardized care when inoperable. One-third of EMPDs overexpress HER2/ERBB2 (human epidermal growth factor receptor 2), highlighting the potential efficacy of HER2 inhibitors in EMPD. Including an institutional case, we reviewed 70 previously published cases treated with at least one HER2 inhibitor for a metastatic or locally advanced EMPD (representing a total of 92 therapeutic lines), retrieved from PubMed and Scopus, to assess their efficacy, tolerability, and prescribing procedures. Monoclonal antibodies, tyrosine kinase inhibitors, and antibody-drug conjugates have been reported, with trastuzumab being the most used. In our study, HER2 inhibitors demonstrated a median progression free survival (PFS) of 12.5&#x202f;months when used as first-line therapy (12&#x202f;months when used as monotherapy, and 13.3&#x202f;months when combined with another systemic treatment - mostly chemotherapeutic agents). The search for HER2 overexpression (through immunohistochemistry and fluorescence in situ hybridization/FISH) may be proposed in all cases of advanced EMPD, ideally in both the primary and metastatic sites, with testing for ERBB2 mutations, particularly in cases without HER2 overexpression. For patients in good general condition, a combination of a HER2 inhibitor and chemotherapy may be proposed, but good responses have also been observed with HER2 inhibitors as monotherapy, which shows excellent tolerability. Numerous types of HER2 inhibitors are now available, using different mechanisms of action, and may be effective even after progression on a first-line HER2 inhibitor.

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Cutaneous leishmaniasis is a protozoan disease transmitted by the bite of infected sandflies. Its management varies according to the different species and clinical settings. We propose herein a new algorithm for the treatment of cutaneous leishmaniasis (CL) in France, in line with specific epidemiological features and therapeutic options available in this country. Due to its ease of use, topical paromomycin should be broadly used, including for multiple lesions (up to ten) and for lesions&#x202f;>&#x202f;4&#x202f;cm. Its main contraindication is proximity to mucosal areas. Cryotherapy, particularly where associated with intralesional meglumine antimoniate, is an interesting option for localized lesions of Old World CL, without risk of mucosal involvement. Pentamidine (intravenous or intramuscular) is particularly useful in remote settings and/or multiple lesions in Leishmania guyanensis infections. Liposomal amphotericin B should be contemplated in case of failure with other treatments, L. infantum in immunosuppressed patients, mucosal or rapidly evolving lesions in South America. Miltefosine, despite its teratogenicity, should be contemplated when hospitalization is impossible.

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