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[Solid persistent facial edema of the young adult. Melkersson-Rosenthal syndrome]
C Mainetti1, I Masouyé, M Harms
1Clinique de Dermatologie, Hôpital Cantonal Universitaire, Genève, Suisse.
Abstract:
We report a case of solid persistent facial oedema in a 18-year-old woman. A biopsy specimen from the nose demonstrating lympho-epithelioid granulomas and an electro-neuro-myographic examination revealing sub-clinical sequellae from an old right facial palsy, led to the definite diagnosis of Melkersson-Rosenthal syndrome (MRS). We focus on the differential diagnosis of persistent facial oedema and outline the difficulties to establish the diagnosis of MRS when all features of the classic triad "recurrent labial edema-facial nerve palsy-lingua plicata" are not present.
Insights
Melkersson-Rosenthal syndrome (MRS) can present with persistent facial swelling, even without all classic symptoms. This case highlights diagnostic challenges in identifying MRS when the full triad is absent.
Area of Science:
- Neurology
- Dermatology
- Pathology
Background:
- Melkersson-Rosenthal syndrome (MRS) is a rare neurological disorder characterized by a triad of recurrent facial nerve palsy, facial swelling (oedema), and a fissured tongue (lingua plicata).
- Diagnosis can be challenging, particularly when not all classic features are present, leading to delays in identification and treatment.
Observation:
- A case study of an 18-year-old woman with persistent facial oedema is presented.
- Diagnostic procedures included a nasal biopsy and electro-neuro-myographic examination.
Findings:
- The nasal biopsy revealed lympho-epithelioid granulomas, a key pathological finding.
- Electro-neuro-myography showed sub-clinical sequelae of a prior right facial palsy.
- These findings, combined with persistent facial oedema, led to the diagnosis of Melkersson-Rosenthal syndrome (MRS).
Implications:
- This case underscores the importance of considering MRS in patients with persistent facial oedema, even in the absence of the complete classic triad.
- It highlights the diagnostic utility of biopsy and electro-neuro-myography in confirming MRS when clinical presentation is atypical.
- Accurate and timely diagnosis of MRS is crucial for appropriate management and preventing potential complications.