{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T23:08:10Z","timestamp":1780096090966,"version":"3.54.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T00:00:00Z","timestamp":1646352000000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Deutsche Derma Gesell"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Neurofibromatosis type\u20101 (NF1) is a genodermatosis frequently encountered in general dermatology. In many patients, the diagnosis of NF1 is made clinically based on the presence of caf\u00e9\u2010au\u2010lait macules and skinfold freckling, as well as plexiform neurofibromas detectable during early childhood. Later in life, cutaneous neurofibromas often represent important diagnostic features. NF1 is characterized by extreme clinical variability and a broad heterogeneity of <jats:italic>NF1<\/jats:italic> gene mutations which impede genotype\/phenotype correlations. Notable exceptions are <jats:italic>NF1<\/jats:italic> microdeletions observed in 5\u201311\u00a0% of all NF1 patients. Patients with <jats:italic>NF1<\/jats:italic> microdeletions frequently exhibit facial dysmorphic features and a tall stature as rather specific clinical signs. Furthermore, cutaneous and subcutaneous neurofibromas present at an early age, severe global developmental delay and cognitive disability are pathognomonic for the \u201c<jats:italic>NF1<\/jats:italic> microdeletion syndrome\u201d. Importantly, <jats:italic>NF1<\/jats:italic> microdeletions are associated with an approximately twofold higher risk for malignant peripheral nerve sheath tumors than intragenic <jats:italic>NF1<\/jats:italic> gene mutations. The severe clinical manifestations of patients with <jats:italic>NF1<\/jats:italic> microdeletions require early multidisciplinary clinical care and frequent tumor surveillance. Therefore, when red flag features for the \u201c<jats:italic>NF1<\/jats:italic> microdeletion syndrome\u201d are present in a patient, genetic testing is necessary to confirm or exclude an <jats:italic>NF1<\/jats:italic> microdeletion.<\/jats:p>","DOI":"10.1111\/ddg.14707","type":"journal-article","created":{"date-parts":[[2022,3,5]],"date-time":"2022-03-05T05:35:03Z","timestamp":1646458503000},"page":"273-277","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["The <i>NF1<\/i> microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease"],"prefix":"10.1111","volume":"20","author":[{"given":"Hildegard","family":"Kehrer\u2010Sawatzki","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Ulm University Medical Center  Ulm 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