American journal of ophthalmology case reports · 2025
Unveiling the complexity of Schimmelpenning-Feuerstein-Mims syndrome: A comprehensive case study.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Vera-Duarte Guillermo Raul, Eskenazi-Betech Ruth, De la Fuente-Batta Isabel, Carreño-Bolaños David, Chacón-Camacho Oscar F, Zenteno Juan C, Graue-Hernandez Enrique O
Аннотация
PURPOSE: The purpose of this study was to report the comprehensively examined patient exhibiting oculocutaneous clinical features of Schimmelpenning-Feuerstein-Mims syndrome (SFMS).
BACKGROUND: Schimmelpenning-Feuerstein-Mims syndrome (SFMS) is a rare phakomatosis characterized by the presence of sebaceous hamartomas on the skin along with extracutaneous abnormalities involving various neuroectodermal systems. The syndrome is typically sporadic and can originate from postzygotic mutations in genes implicated in the RAS signaling pathway (RAS proteins and their downstream pathways play pivotal roles in cell proliferation, differentiation, survival, and cell death): HRAS (11p15), NRAS (1p13), and KRAS (12p12). This case report involves a comprehensively examined patient exhibiting oculocutaneous clinical features of SFM, without neurological or involvement in other areas. Clinical and molecular diagnoses enable tailored monitoring of potentially affected organs and systems, involving a multidisciplinary approach by various medical specialists.
CONCLUSION AND IMPORTANCE: The SFM is attributed to a pathogenic variant in KRAS gene. The molecular analysis in individuals suspected of SFMS involves identifying the somatic mutation in affected tissues and comparing it with non-affected tissues, such as mucosa or blood. Early detection and appropriate treatment of ophthalmological abnormalities associated with SFM are crucial to improving the quality of life and visual prognosis of affected individuals.
BACKGROUND: Schimmelpenning-Feuerstein-Mims syndrome (SFMS) is a rare phakomatosis characterized by the presence of sebaceous hamartomas on the skin along with extracutaneous abnormalities involving various neuroectodermal systems. The syndrome is typically sporadic and can originate from postzygotic mutations in genes implicated in the RAS signaling pathway (RAS proteins and their downstream pathways play pivotal roles in cell proliferation, differentiation, survival, and cell death): HRAS (11p15), NRAS (1p13), and KRAS (12p12). This case report involves a comprehensively examined patient exhibiting oculocutaneous clinical features of SFM, without neurological or involvement in other areas. Clinical and molecular diagnoses enable tailored monitoring of potentially affected organs and systems, involving a multidisciplinary approach by various medical specialists.
CONCLUSION AND IMPORTANCE: The SFM is attributed to a pathogenic variant in KRAS gene. The molecular analysis in individuals suspected of SFMS involves identifying the somatic mutation in affected tissues and comparing it with non-affected tissues, such as mucosa or blood. Early detection and appropriate treatment of ophthalmological abnormalities associated with SFM are crucial to improving the quality of life and visual prognosis of affected individuals.