BACKGROUND: Localized Amyloidosis (AL) may rarely involve oral mucosa. This is the first known reported case describing the development of tongue AL in a 30-year-old patient with Neurofibromatosis (NF) type-2. CASE: A female patient presented with a painless, well-circumscribed nodule of the tongue. Her medical history included NF type-2 with chromosome-22 abnormal karyotype (mosaicism), multiple intracranial and spinal meningiomas/schwannomas and unilateral blindness/deafness. The biopsy of the excised lesion of the tongue revealed subepithelial accumulation of an amorphous, nodular, fibrillar material positive for Congo red. Blood examination showed increased Thyroxine-T4 due to thyroid multinodular colloid goiter, but excluded any other hematological/immunological disorder or organ dysfunction. No recurrence was observed after a six-month follow-up. CONCLUSION: This case highlights the possibility of oral manifestations as the only sign of AL and reveals the unexpected co-existence of AL and NF 2, for the first time.
BACKGROUND: Localized Amyloidosis (AL) may rarely involve oral mucosa. This is the first known reported case describing the development of tongue AL in a 30-year-old patient with Neurofibromatosis (NF) type-2. CASE: A female patient presented with a painless, well-circumscribed nodule of the tongue. Her medical history included NF type-2 with chromosome-22 abnormal karyotype (mosaicism), multiple intracranial and spinal meningiomas/schwannomas and unilateral blindness/deafness. The biopsy of the excised lesion of the tongue revealed subepithelial accumulation of an amorphous, nodular, fibrillar material positive for Congo red. Blood examination showed increased Thyroxine-T4 due to thyroid multinodular colloid goiter, but excluded any other hematological/immunological disorder or organ dysfunction. No recurrence was observed after a six-month follow-up. CONCLUSION: This case highlights the possibility of oral manifestations as the only sign of AL and reveals the unexpected co-existence of AL and NF 2, for the first time.
Authors: V F Mautner; M Lindenau; M E Baser; W Hazim; M Tatagiba; W Haase; M Samii; R Wais; S M Pulst Journal: Neurosurgery Date: 1996-05 Impact factor: 4.654
Authors: Daniel D Kokong; Titus S Ibekwe; Clement A Okolo; Aliyu M Kodiya; James A Fasunla; Onyekwere Gb Nwaorgu; Effiong Eu Akang Journal: J Med Case Rep Date: 2007-10-29
Authors: Hélen Kaline Farias Bezerra; Talita Ribeiro Tenório de França; José Divaldo Prado; Rafael Segura Saint-Gerons; Elaine Judite de Amorim Carvalho; Danyel Elias da Cruz Perez Journal: Head Neck Pathol Date: 2022-03-16