Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survival.
(9/25)
OBJECTIVE: To characterize symptoms and signs of AL amyloidosis that may bring patients to the attention of rheumatologists, evaluate Ig V(L) gene usage in this subgroup of patients, and assess the impact of soft tissue and bone involvement and V(L) gene usage on survival. METHODS: Clinical features of soft tissue and bone involvement were assessed in 191 patients with AL amyloidosis. V(L) gene sequencing was carried out to determine light-chain family, rate of somatic mutation, and evidence of antigen selection. The association of soft tissue and bone involvement with V(L) gene usage was assessed by logistic regression analysis, and survival time was analyzed using log rank tests and Cox regression models. RESULTS: Soft tissue and bone involvement occurred in 42.9% of the patients, and 9.4% had dominant soft tissue and bone involvement. The most common manifestations were submandibular gland enlargement, macroglossia, and carpal tunnel syndrome. Dominant soft tissue and bone involvement was significantly associated with V(L)kappaI gene usage. Mutation rate and evidence of antigen selection in the V(L) genes were not found to be confounding factors, providing evidence against a contribution of autoimmunity in this type of AL amyloidosis. Survival time was initially longer in patients with dominant soft tissue and bone involvement than in patients with other dominant organ involvement; however, this difference diminished over time. CONCLUSION: Amyloid infiltration into soft tissue, joints, periarticular structures, and bones can bring patients with AL amyloidosis to the attention of rheumatologists. Recognition of the presenting symptoms is essential for accurate diagnosis and appropriate treatment, since the long-term outlook for untreated patients with dominant soft tissue and bone involvement is not better than that for patients with other dominant features of AL amyloidosis. (+info)
Macroglossia caused by adenoid cystic carcinoma. Case report.
(10/25)
A 33-year-old woman sought medical care at our institution for macroglossia. She had been treated before with tracheostomy and gastrostomy due to an adenoid cystic carcinoma (ACC) of the mobile tongue, in clinical stage IVC. She was subjected to total glossectomy with larynx preservation, modified radical dissection of the right neck and of the left supraomohyoid muscle, as well as reconstruction using a free flap from the rectus abdominus. The histological report described a 15x11 cm solid type ACC of the mobile tongue (grade III), with infiltration to adjacent soft tissues, vascular and lymphatic vessels, as well as two metastatic lymph nodes in the right neck dissection. One month after surgery, bone and bilateral pulmonary tumor activity became evident. In advanced-stage tumors, treatment must be individualized, and when accompanied by severe deterioration of the quality of life, surgery is recommended independently from the extension, provided that a good reconstruction is accomplished. (+info)
Morphologic and histologic outcomes of tongue reduction surgery in an animal model.
(11/25)
Dental patient with acromegaly: a case report.
(13/25)
Acromegaly is an acquired disorder related to excessive production of growth hormone after epiphyseal closure of bones. It is characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. The prevalence is estimated at 1:140,000-250,000. Although acromegaly rarely manifests in the orofacial regions, it must be considered in patients who develop malocclusion after adolescence. Here, we present a case of acromegaly with brief review of the literature. (+info)
Giant macroglossia with persistent nonocclusion in a neonate.
(14/25)