Introduction Isolated amyloidosis involving the head and neck is a rare entity. The pathophysiology of the localized disease appears to be distinct from that of the systemic counterpart. Systemic progression of the localized disease is unusual, and the prognosis of the localized form is excellent.
Objective To describe the demographic and clinicopathological characteristics of patients presenting with localized head and neck subsite amyloidosis.
Methods A retrospective chart review of the patients with head and neck amyloidosis identified by the electronic search of the electronic database of the Departments of Pathology and Otorhinolaryngology was performed. The various demographic and clinical data were tabulated.
Results In total, seven patients (four females, three males) with localized head and neck amyloidosis (three supraglottic, three lingual and one sinonasal) were identified. Six patients had AL-amyloid deposits, and one patient had AA-amyloid deposits. Supraglottic involvement and that of the base of the tongue were treated surgically using CO2 laser, and these patients were disease-free at the last follow-up. The patient with sinonasal amyloidosis experienced symptom recurrence after six months of the functional endoscopic sinus surgery. All of the patients were screened for systemic amyloidosis with abdominal fat pad biopsy, and were found to be free of systemic spread.
Conclusion Isolated head and neck amyloidosis, as opposed to systemic amyloidosis, has an excellent prognosis in terms of survival. Therefore, systemic amyloidosis should be excluded in all cases. The treatment of choice remains surgical excision; however, watchful waiting may be a suitable strategy for mild symptoms or for cases in which the disease was discovered incidentally.
Background
Erdheim-Chester disease (ECD) is a rare multisystemic histiocytic disorder of unknown etiology. Isolated neck involvement has not been reported in literature.
Case presentation
An elderly male presented to our outpatient department with neck swelling of 1-month duration. Contrast-enhanced CT scan of the neck showed a mass involving the left thyroid/perithyroidal tissue with encirclement of the common carotid artery. Tru-Cut biopsy with immunohistochemistry showed CD68+, CD1a- histiocytic infiltrates with Touton giant cells compatible with ECD. BRAFV600E mutation came out to be positive. PET-CT did not reveal involvement of any other body organs. After counseling for further treatment options, the patient chose to follow up without any active treatment. The disease has not progressed at a follow-up of 1 year.
Conclusion
We present a case of ECD involving the thyroid gland in isolation. Absence of other organ involvement should not deter the treating physician from considering the possibility of ECD. Immunohistochemistry and testing for BRAFV600E mutation are important from the diagnostic as well as potential therapeutic point of view.
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