{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T09:16:17Z","timestamp":1774602977433,"version":"3.50.1"},"reference-count":15,"publisher":"American Medical Association (AMA)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Dermatol"],"published-print":{"date-parts":[[2025,8,1]]},"abstract":"<jats:sec id=\"ab-dbr250003-4\"><jats:title>Importance<\/jats:title><jats:p>Diffuse cutaneous mastocytosis (DCM) is a rare and severe subtype of pediatric mastocytosis, characterized by extensive skin involvement. Comprehensive studies on the clinical and molecular features of DCM remain limited.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr250003-5\"><jats:title>Objective<\/jats:title><jats:p>To describe the clinical, molecular, and treatment-related characteristics and outcomes of a cohort of pediatric patients with a clinical presentation of DCM.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr250003-6\"><jats:title>Design, Setting, and Participants<\/jats:title><jats:p>This retrospective study analyzed pediatric patients with a clinical presentation of DCM from January 1996 to October 2023 at Necker Children\u2019s Hospital in Paris, France.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr250003-7\"><jats:title>Main Outcome and Measures<\/jats:title><jats:p>Data on clinical presentation, laboratory results, and <jats:italic>KIT<\/jats:italic> sequencing from skin biopsies and bone marrow, if available, were collected and analyzed. These data were compared with previously published findings from a pediatric cohort with maculopapular cutaneous mastocytosis (MPCM).<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr250003-8\"><jats:title>Results<\/jats:title><jats:p>The study included 33 pediatric patients, 18 (54.5%) of whom were male, with a clinical presentation of DCM, including 4 with aggressive systemic mastocytosis (ASM) and 29 with DCM. The mean (SD) age at the onset of the first clinically significant signs was 2.2 (2.2) months. A disease-revealing massive bullous eruption was noted in 9 patients (27.2%). Compared to MPCM, patients with a clinical presentation of DCM had a higher mean baseline serum tryptase level (47.5 \u03bcg\/L [SD, 38.7; range, 5.0-178.0 \u03bcg\/L] vs 7.4 \u03bcg\/L [SD, 6.4; range, 1-45.2]; <jats:italic>P<\/jats:italic>\u2009&amp;amp;lt;\u2009.001), a higher prevalence of anaphylaxis (4 [12.1%] vs 5 [2.4%]; <jats:italic>P<\/jats:italic>\u2009=\u2009.02), and a more frequent association with ASM (4 [12.1%] vs 2 [0.9%]; <jats:italic>P<\/jats:italic>\u2009=\u2009.004). <jats:italic>KIT<\/jats:italic> codon 816 variants were identified in 4 patients (19.0%), other <jats:italic>KIT<\/jats:italic> variants in 14 patients (66.7%), and wild-type <jats:italic>KIT<\/jats:italic> in 3 patients (14.3%). All 4 patients with <jats:italic>KIT<\/jats:italic> codon 816 variants had ASM. Seven patients (21.2%) received early systemic treatment (imatinib, midostaurin, or sirolimus depending on the type of <jats:italic>KIT<\/jats:italic> variants), starting at a mean (SD) age of 80.8 (135.6) months and continuing for a mean (SD) of 4.0 (2.6) years, with generally good tolerance and efficacy. Of the 15 patients without systemic treatment for more than 6 years, 13 (86.6%) exhibited spontaneous regression.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr250003-9\"><jats:title>Conclusion and Relevance<\/jats:title><jats:p>In this cohort study, DCM presentation differs significantly from MPCM, with a higher risk of anaphylaxis and aggressive systemic forms, the latter being consistently associated with the <jats:italic>KIT<\/jats:italic> D816V variant. Tyrosine kinase inhibitors and sirolimus were generally effective and well tolerated in this pediatric population, with the choice of treatment depending on the type of <jats:italic>KIT<\/jats:italic> variants.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamadermatol.2025.1488","type":"journal-article","created":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T11:31:06Z","timestamp":1748431866000},"page":"855","source":"Crossref","is-referenced-by-count":2,"title":["Characteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis"],"prefix":"10.1001","volume":"161","author":[{"given":"Paula","family":"Pernea","sequence":"first","affiliation":[{"name":"Department of Dermatology, Reference Center for Rare Skin Disorders in Children, AP-HP, Necker Children\u2019s Hospital, Paris Centre University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecile","family":"M\u00e9ni","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Reference Center for Rare Skin Disorders in Children, AP-HP, Necker Children\u2019s Hospital, Paris Centre University, Paris, France"},{"name":"CEREMAST, Imagine Institute, INSERM U1163, AP-HP, Necker Children\u2019s Hospital, Paris Centre University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Rossignol","sequence":"additional","affiliation":[{"name":"CEREMAST, Imagine Institute, INSERM U1163, AP-HP, Necker Children\u2019s Hospital, Paris Centre University, Paris, France"},{"name":"Department of Hematology, Necker Children\u2019s Hospital, AP-HP, Paris Centre University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Aubert","sequence":"additional","affiliation":[{"name":"Department of Dermatology, CHU Nantes, Nantes, 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Hospital, Paris Centre University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Claire","family":"Bursztejn","sequence":"additional","affiliation":[{"name":"Department of Dermatology, H\u00f4pitaux de Brabois, Vand\u0153uvre-l\u00e8s-Nancy, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Carr\u00e9","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Groupe Hospitalier du Havre, Le Havre, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Phan","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Rheumatology, Dermatology Unit, Hospices Civils de Lyon, Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eve","family":"Puzenat","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University Hospital of Besan\u00e7on, Besan\u00e7on, 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