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Published on: September 20, 2018
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[Schimmelpenning-Feuerstein-Mims syndrome: a case report]
E Bahloul1, I Abid2, A Masmoudi1
1Service de dermatologie, CHU Hedi Chaker, 3029 Sfax, Tunisie.
Summary
Schimmelpenning-Feuerstein-Mims syndrome (SFM) is a rare neurocutaneous disorder. Early detection of associated anomalies like aortic coarctation and West syndrome is crucial for patient management.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Dermatology
Background:
- Schimmelpenning-Feuerstein-Mims syndrome (SFM) is a rare congenital neurocutaneous disorder.
- It is characterized by nevus sebaceous and various extracutaneous abnormalities.
Observation:
- A novel case of SFM is presented.
- This case features aortic coarctation and drug-resistant West syndrome.
Findings:
- The case highlights the complex presentation of SFM.
- Co-occurrence of cardiovascular and neurological issues in SFM is demonstrated.
Implications:
- Emphasizes the need for comprehensive evaluation in SFM patients.
- Highlights the importance of vigilant monitoring for associated anomalies.
