Abstract ID: 26-462
A rare mosaic KRASopathy case of Schimmelpenning–Feuerstein–Mims (SFM) syndrome: Oculocutaneous presentation and management considerations
Author: Isabel Rosa Escofet Fernández Base Hospital / Institution: Buckinghamshire Healthcare NHS Trust
Presentation Type: ePoster Presentation
Purpose
Objectives: To report a case of SFMS with significant periocular and orbital disease, and to highlight the diagnostic approach and oculoplastic management considerations.
Methods
Methods: Single case review with clinical examination, MRI of the brain and orbits, and germline plus targeted mosaic skin genetic testing. Clinical photographic documentation of large left eyebrow sebaceaous nevus of Jadassohn, ptosis, superior orbital fornix hamartoma and corneal opacity.
Results
Results: A 36-year-old man presented with long-standing left ptosis and progressive periocular fullness, with a congenital pigmented forehead lesion operated in childhood. Visual acuity: 6/6 right, counting fingers left (amblyopic). Examination: an extensive eyebrow sebaceous naevus of Jadassohn of the left eyebrow, severe ptosis with poor levator function, non-pulsatile proptosis, restricted up-gaze, a pink diffuse mass in the upper fornix extending to the superior limbus and temporal corneal vascularization and opacity, optic disc coloboma, retinal staphyloma. MRI showed a multinodular frontal scalp lesion, intra- and extraconal orbital infiltration, sphenoid wing dysplasia, a temporal arachnoid cyst and a Meckel’s cave lesion.
Germline neurofibromatosis type 1 testing was negative; a mosaic skin panel identified a somatic KRAS mutation in skin only, in keeping with the predominant KRAS genotype in SFMS with ophthalmic and CNS involvement.
A staged oculoplastic plan was adopted: debulking of the brow/lid lesion with skin grafting, (post operative images available), with planned left upper eyelid debulking and ptosis repair. With poor visual potential, priorities are ocular surface protection and cosmesis.
Conclusion
Discussion: SFMS is a rare cause of significant and complex orbital and periocular disease. Skin-based mosaic testing is essential when blood-based panels are negative but clinical suspicion remains. Oculoplastic management requires a staged, function-oriented approach.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Fiona | Jazayeri | Buckinghamshire Healthcare NHS Trust |