Unveiling the complexity of Schimmelpenning-Feuerstein-Mims syndrome: A comprehensive case study.

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): (11p15), (1p13), and (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 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.