JEADV clinical practice最新文献

{"title":"Pigmentary Mosaicism: An Overview","authors":"C. Colmant,&nbsp;E. Legius,&nbsp;N. Cattaert,&nbsp;M.-A. Morren","doi":"10.1002/jvc2.70048","DOIUrl":"https://doi.org/10.1002/jvc2.70048","url":null,"abstract":"<p>Mosaicism refers to an individual who developed from a single fertilised egg but has two or more populations of cells with a different genotype as a result of a postzygotic mutation. Pigmentary mosaicism is reflected by a patterned hypo-, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal abnormality, mosaicism for an intragenic pathogenic variant and epigenetic mosaicism (X-linked due to X-chromosome inactivation). Recently, different new disease entities have been described with a specific genotype, most of them with characteristic extra-cutaneous features.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 3","pages":"681-689"},"PeriodicalIF":0.5,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic Workup of Mosaicism in Children","authors":"Francesca Besagni,&nbsp;Alessandra Gelmetti,&nbsp;Annalucia Virdi,&nbsp;Bianca Maria Piraccini,&nbsp;Iria Neri","doi":"10.1002/jvc2.70077","DOIUrl":"https://doi.org/10.1002/jvc2.70077","url":null,"abstract":"<p>Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential diagnosis and applications of advances in genetic testing technology. This is aimed at supporting colleagues operating in genodermatosis clinical practice.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 3","pages":"659-663"},"PeriodicalIF":0.5,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70077","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Melanocytic Naevi","authors":"A. C. Fledderus,&nbsp;C. J. A. van Eijsden,&nbsp;N. den Hertog,&nbsp;M. S. van Kessel,&nbsp;A. Wolkerstorfer,&nbsp;M. M. Pleumeekers,&nbsp;S. G. M. A. Pasmans","doi":"10.1002/jvc2.70079","DOIUrl":"https://doi.org/10.1002/jvc2.70079","url":null,"abstract":"<p>Congenital melanocytic naevi (CMN) are birthmarks that can cover large areas of the body. CMN can significantly impact individuals' lives due to perceived stigma, the risk for melanoma development and neurological complications. To treat and prevent these complications, adequate research and guidelines are needed. In this review, we present a summary of the Dutch multidisciplinary guideline and the lessons learned from the implementation and information developed additionally in collaboration with the patient association. We also introduce the core outcomes of the OCOMEN project to standardize outcomes for both research and care of CMN. The next step is the development of the instruments internationally.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 3","pages":"690-696"},"PeriodicalIF":0.5,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Testing in Mosaicism","authors":"Cristina Has","doi":"10.1002/jvc2.70073","DOIUrl":"https://doi.org/10.1002/jvc2.70073","url":null,"abstract":"<p>Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of transmission to the offspring. Precise diagnosis and identification of the dysregulated pathway are also the basis for therapeutic interventions. Here we address the questions why, when, and how to perform genetic testing for mosaic skin conditions.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 3","pages":"664-668"},"PeriodicalIF":0.5,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70073","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cutaneous Mosaicism","authors":"Antonio Torrelo","doi":"10.1002/jvc2.70111","DOIUrl":"https://doi.org/10.1002/jvc2.70111","url":null,"abstract":"<p>A mosaic is an individual composed of two or more genetically different cell lines originating from one homogeneous zygote. This short but precise definition, based on a genetic concept applicable to all pluricellular living organisms, has a great impact on human skin diseases, as it is the hallmark of a great number of human diseases with extremely variable presentations. The skin is a privileged organ for the study of mosaicism because the skin lesions are visible, readily accessible to gene testing and may be associated with internal lesions in organs embryologically related to the skin structures affected by mosaicism.</p><p>Overall, every skin lesion caused by a postzygotic pathogenic variant is considered a mosaic lesion. In a broad sense, every skin nevus or even tumoral lesion, regardless of age of appearance and clinical expression (including both patterned and non-patterned lesions), is the result of mosaicism, with different mosaic mechanisms involved, ranging from lethal mutations occurring during embryonic development to second-hit mutations in nonlethal dominant genes causing tumor-prone syndromes. The genetic concept of mosaicism thus provides an explanation for the pathogenesis of both rare and common skin diseases. In a more restricted sense, the group of mosaic conditions encompasses skin lesions that most often appear at birth or in infancy, and follow fixed embryonic patterns or reflect the migration of cell clones during embryonic development.</p><p>During the past decades, theories based on observation were formulated, mainly proposed by Prof. Rudolf Happle. Advances in genetic testing have corroborated most of Happle's hypotheses, and many laboratories worldwide are now able to document, at the molecular level, the mutational origin of the vast majority of skin mosaic conditions. While some preliminary studies have demonstrated the potential of targeted therapies acting at different levels in mosaic skin conditions, it is expected that in the future, most mosaic conditions will be treatable with targeted drugs administered orally or topically.</p><p>This Special Issue of JEACP is dedicated to Cutaneous Mosaicism and is authored by some of the most reputed European experts in the field. It offers an overview of the basic mechanisms of cutaneous mosaicism, the clinical approach to mosaic disorders and reviews the most important groups of mosaic skin conditions. I hope our readers will enjoy the outstanding work carried out by our contributors.</p><p>The author declares no conflicts of interest.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70111","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Categories of Cutaneous Mosaicism","authors":"Rudolf Happle","doi":"10.1002/jvc2.70075","DOIUrl":"https://doi.org/10.1002/jvc2.70075","url":null,"abstract":"<p>In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders. (3) Simple segmental versus superimposed mosaicism in autosomal dominant disorders. (4) Lethal mutations surviving in a mosaic; (5) Isolated segmental biallelic monoclonal mosaicism; (6) Autosomal recessive mosaicism; (7) Revertant mosaicism in autosomal dominant disorders; (8) Revertant mosaicism in autosomal recessive disorders; (9) Epigenetic mosaicism in X-linked dominant, male-lethal traits; (10) Epigenetic mosaicism in X-linked, nonlethal traits; (11) Mosaicism in polygenic disorders; (12) Hypothetical epigenetic mosaicism in an autosomal dominant trait. Future research may show whether this classification is useful and complete.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 3","pages":"652-658"},"PeriodicalIF":0.5,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70075","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidermal Nevi and Epidermal Naevus Syndromes","authors":"Gianluca Tadini,&nbsp;Beatrice Carcano,&nbsp;Michela Brena","doi":"10.1002/jvc2.70076","DOIUrl":"https://doi.org/10.1002/jvc2.70076","url":null,"abstract":"<p>Epidermal nevi (EN) arise from postzygotic variants in ectoderm-derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 3","pages":"669-680"},"PeriodicalIF":0.5,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70076","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mosaicism of Vascular Origin","authors":"Olivia Boccara","doi":"10.1002/jvc2.70074","DOIUrl":"https://doi.org/10.1002/jvc2.70074","url":null,"abstract":"<p>Superficial vascular anomalies are mosaic disorders and are mostly sporadic. They result from activating post-zygotic mutations involving genes that belong to two main signalling pathways: the PIK3CA-AKT-mTOR pathway and the RAS-MAK-kinases pathway. More rarely, some conditions may be hereditary, and mosaic clinical manifestations result from the second hit mechanism; in those cases, the pathogenic variant leads to a loss-of-function; the capillary malformation-arteriovenous malformation syndrome (CM-AVM) is related to pathogenic variants in <i>RASA1</i> or <i>EPHB4</i>; the <i>PTEN</i> hamartoma and tumour syndrome (PHTS) results from <i>PTEN</i> pathogenic variants [<span>1</span>].</p><p>Superficial vascular anomalies are listed in the ISSVA classification [<span>2</span>]. Several guidelines for management of various types of vascular anomalies are already published by different teams, and it is not our aim herein to add a further opinion [<span>1-4</span>]. The overall management of cutaneous mosaic disorders described by Kinsler et al. feats perfectly well those of vascular origin [<span>5</span>]. Diagnosis relies first on clinical manifestations that can be enough to make it out. However, in some instances, further investigations may be necessary: imaging such as US Doppler, Magnetic resonance imaging and angiography, histopathology and genetics. Investigations will be specifically performed depending on the complete clinical assessment conclusions. Genetics is not always mandatory and frequently not enough to confirm a diagnosis. A single lesion may be related to different pathogenic variants. This is the case of venous malformations that can result from either <i>TEK</i> or <i>PIK3CA</i> mutations [<span>6, 7</span>]. As another example, soft tissue angiomatosis, which is characterized by specific clinical, imaging and histopathological features, will be defined as PHTS hamartoma of soft tissue (PHOST) in the context of PHTS, and Fibro-adipose vascular anomaly (FAVA) when isolated with an identified somatic <i>PIK3CA</i> pathogenic variant [<span>8</span>]. On the other hand, a single pathogenic variant may lead to different types of lesions or syndromes: <i>PIK3CA</i> will be responsible for isolated venous and lymphatic malformations, combined syndromes such as Congenital Lipomatous Overgrowth Vascular Epidermal skeletal anomalies syndrome (CLOVES) or megalencephaly-capillary malformation (M-CAP) [<span>9</span>]. Therefore, identified genetic variants always need to be confronted with clinical manifestations as well as imaging or histopathological features, if necessary, to reach an accurate diagnosis. Even more, some clinical presentations may be highly evocative of a specific syndrome, but the expected pathogenic variant fails to be identified in some instances. In the CM-AVM syndrome characterized by numerous small round pale pink capillary malformations with a pale halo, central nervous system screening may be considered to se","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 3","pages":"697-699"},"PeriodicalIF":0.5,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70074","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pyoderma gangrenosum associated with major adverse cardiovascular events.","authors":"Nana Ama Adjei-Frimpong, Francesco Delacqua, Ben A Croker, Reid Oldenburg","doi":"10.1002/jvc2.70114","DOIUrl":"10.1002/jvc2.70114","url":null,"abstract":"<p><strong>Background: </strong>Pyoderma gangrenosum (PG) is a neutrophilic dermatosis characterized by the rapid onset of painful ulcers. Previous retrospective population-based studies have identified a relationship between PG and major adverse cardiovascular events (MACE). However, these studies lacked appropriate control groups and were not conducted in the United States (US).</p><p><strong>Objectives: </strong>This study examines the association between PG and MACE using the All of Us (AoU) database, a nationwide initiative created to increase research in underrepresented populations.</p><p><strong>Methods: </strong>We performed a nested case-control study among US adults in the AoU program from May 6, 2018 to March 2, 2025. SNOMED codes were used to identify all conditions. PG cases were then matched 4:1 to controls by age, sex, ethnicity, and smoking status. MACE was assessed using logistic regression adjusting for hypertension, diabetes mellitus, hyperlipidemia, systemic lupus erythematosus, and rheumatoid arthritis.</p><p><strong>Results: </strong>We identified 579 PG cases. MACE was significantly associated with PG compared to controls, showing (OR, 2.19; 95% CI, 1.47-3.27; <i>p</i><.001) in our multivariable model.</p><p><strong>Conclusions: </strong>In this nationally representative US cohort, PG was independently associated with increased odds of MACE. These findings highlight the importance of comprehensive cardiovascular screening in patients with PG and support the need for proactive risk management. Further studies exploring the pathophysiological mechanisms underlying this association may help guide more targeted and effective care strategies.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144777386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical Gamma-Delta-Positive T-Cell Lymphoproliferation With Clinical Features of Lymphomatoid Papulosis in Three Children","authors":"Lachance Madeleine,&nbsp;Ram-Wolff Caroline,&nbsp;Delisle Bernard,&nbsp;Sigg Nina,&nbsp;Bataille Pauline,&nbsp;Bourrat Emmanuelle,&nbsp;Dumont Maëlle,&nbsp;Battesti Gilles,&nbsp;Bozonnat Alizée,&nbsp;Louveau Baptiste,&nbsp;Mourah Samia,&nbsp;Moins-Teisserenc Hélène,&nbsp;Bagot Martine,&nbsp;Lamant Laurence,&nbsp;Croue Anne,&nbsp;Michalak Sophie,&nbsp;BAH Ismael,&nbsp;Kempf Werner,&nbsp;Battistella Maxime,&nbsp;De Masson Adèle","doi":"10.1002/jvc2.70085","DOIUrl":"https://doi.org/10.1002/jvc2.70085","url":null,"abstract":"<p>Primary cutaneous gamma-delta T-cell lymphoma has been described as an aggressive entity with a poor prognosis. However, gamma-delta T-cell receptor expression has been described in various types of skin lymphoproliferations. Paediatric cases of LyP are increasingly recognized, but paediatric LyP with a gamma-delta phenotype have been rarely described. We report three paediatric patients with indolent gamma-delta lymphoproliferation, with a relapsing-remitting course evoking LyP. These three cases emphasize that TCR gamma-delta expression in a lymphoproliferation is not a synonym of gamma-delta lymphoma. Indeed, these cases raise the question of a paediatric variant of CD30-negative lymphomatoid papulosis with histological features of atypical gamma-delta-positive T-cell lymphoproliferation and underline the necessity of cautious clinico-histological correlation when facing a gamma-delta lymphoproliferation to avoid overtreatment.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 4","pages":"883-886"},"PeriodicalIF":0.5,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70085","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144923561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}