OSCE Autoimmune Flashcards
52-year-old male with perioral swelling for the last one year. It has now become persistent. His past medical history is significant for Crohn’s and a facial nerve palsy. He is a smoker. He is otherwise healthy. Physical exam shows a geographic tongue with deep furrows.
Provide a differential diagnosis and investigations.
Biopsy shows granulomatous tissue. What is the most likely diagnosis and how would you mange it?
Melkersson-Rosenthal syndrome
- Recurrent episodes of facial paralysis, facial swelling, trifid fissured tongue
- There is also persistent lip angioedema
- Usually begins in adolescence
- Granulomatous inflammation is seen in the edematous tissue. - A genetic origin has been suggested, but the cause is unknown and treatment unproven
- Can be symptomatic of Crohn’s or sarcoidosis
Investigations:
- Bloodwork
- Biopsy +/- imaging?
- Biopsy would show non-caseating granulomas
DDx:
Granulomatous disorders such as foreign body reaction, sarcoidosis, Crohn’s disease, Wegener’s vasculitis, amyloidosis and a wide variety of infections; Bell’s palsy, orofacial herpes, rosacea, contact dermatitis and allergic reactions should also be considered. Furthermore, when facial or lip swelling is the monosymptomatic presentation of MRS, usually intermittent upon onset as in this case report, it can strongly mimic angioedema
Treatment:
- symptomatic –> NSAIDs for pain, corticosteroids to reduce swelling
- Abx and immunosuppressants (e.g. MTX)
- May need surgery to relieve pressure on facial nerves and reduce swelling
