Publications by authors named "D Zachar"
Article Synopsis
- A study was conducted on a 4-generation family with Hyperparathyroidism-Jaw Tumor syndrome (HPT-JT) linked to a specific deletion in the CDC73 gene, revealing variable clinical presentations among family members.
- Of the 24 relatives studied, 13 had the gene deletion, with about 50% of individuals showing symptoms of hyperparathyroidism by age 40, leading to surgery in seven patients for parathyroid adenomas.
- Findings included high calcium levels, kidney issues in over half the patients, presence of atypical adenomas, and notable variations in disease expression, even among identical twins, indicating genetics play a significant role in disease severity and manifestation.
Background: Neurofibromas (NF) are benign tumors of the peripheral nerves that are composed of Schwann cells, perineural-like cells and fibroblasts. The differential diagnosis for a solitary intraneural variant of neurofibroma arising in the floor of the mouth is broad and includes a submandibular gland neoplasm and adenopathy, among others. The intraoral approach is the best choice for a medium-sized lesion.
View Article and Find Full Text PDFSchwannomas are benign peripheral nerve sheath tumors originating from the Schwann cells. Most schwannomas in the head and neck region are solitary; however, multiple schwannomas affecting one or more nerves suggest a possible association with neurofibromatosis type 2 and schwannomatosis. Plexiform schwannoma is a rare variant of conventional schwannoma that is characterized by intraneural multinodular growth.
View Article and Find Full Text PDFBackground: Herein, we report the first case of kaposiform haemangioendothelioma (KHE) associated with acute B-lymphoblastic leukemia (B-ALL).
Patients And Methods: A five-month-old infant presented a plaque of angiomatous appearance on the forearm that had increased in volume since birth, as well as pallor and cutaneous haematomas. Kasabach-Merritt syndrome (KMS) was evoked despite hepatomegaly and considerable splenomegaly.