SynthesisFrontiers in medicine2025
Schimmelpenning-Feuerstein-Mims syndrome: a systematic review of clinical cases to identify genotype-phenotype associations.
Synthesis in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
6 authors.
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Abstract
Background/objectives: Schimmelpenning-Feuerstein-Mims syndrome (SFMS) is a rare genodermatosis from the group of epidermal nevus syndromes with a wide range of clinical manifestations, including linear nevus sebaceous, ophthalmological disorders, cardiovascular abnormalities, nervous system and musculoskeletal system lesions. Benign and malignant neoplasms, precocious puberty, lymphedema and malformations of the lymphatic system may also be present. The main cause of the syndrome are postzygotic mutations in the RAS pathway, namely in the Methods: A systematic literature review (SLR) was conducted in several databases, including PubMed and ResearchGate to search for clinical cases of SFMS with genetic testing data from 1946 to 2025. The criterion for inclusion was considered to be the reference to SFMS or its synonyms in article titles with no limitations on language or date of publication. Also, no restrictions on patient age, ethnicity, presence/absence of photo-materials were applied. Only original articles reporting clinical case or case series with detection of postzygotic mutations in the Results: Currently, 50 patients with SFMS and identified pathogenic variants in the Conclusion: The data obtained indicates the necessity of genetic testing for all patients suspected of SFMS to determine the individual risk of comorbidities and to form a personalized plan for dynamic follow-up. Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/view/CRD420251085872, identifier CRD420251085872.
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