No abstract

Superficial angiomyxoma is a rare cutaneous and benign lesion. We present a case of congenital presentation of a superficial angiomyxoma in the parotid region in a 9-year-old female that was misdiagnosed as a parotid tumor. Appropriate diagnosis is important since such lesions have a good prognosis and rarely affect deeper structures. Possibility of superficial angiomyxoma should be kept in mind in the differential diagnosis of lesions of the parotid region.

*Pleomorphic adenomas, also known as benign mixed tumours, are common salivary gland tumours, which infrequently undergo malignant transformation, with potentially devastating consequences. *Malignant salivary gland tumours can present as dental swelling, dental pain and sudden loss of vitality of teeth so both general practitioners and specialists have the responsibility to evaluate such patients with a broad vision. *Radiographic differential diagnosis of periapical radiolucency should also include malignant salivary gland tumours. *This case highlights the need of vigilance at all times and emphasizes the benefits of biopsy and histological examination in the diagnosis of recurrent malignant salivary gland tumours.

Although poorly-differentiated tumors show loss of E-cadherin, better-differentiated tumors over-express HER-2/neu protein. Signet ring-cell carcinoma is more likely to exhibit a loss of E-cadherin protein. Targeted therapy toward HER-2/neu in GAC should be considered. Novel therapy to block E-cadherin down-regulation is justified.

Hemoglobin (Hb) E mutation is common in north-east part of our country. The natural history of Hb E thalassemia is highly variable. The phenotype, for patients with similar mutations, can range from asymptomatic to transfusion dependent. Our patient presented at 2 years of age with failure to thrive and hepatosplenomegaly. Routine work up revealed microcytic, hypochromic red blood cells. Hb E homozygous was indicated on electrophoresis and hemoglobin HPLC. Evaluation of parents revealed Haemoglobin E trait in both. Therapeutic splenectomy revealed Gaucher-like cells. b-Glucocerebrosidase levels were low. Presence of Gaucher-like cells with normal b-glucocerebrosidase (pseudo-Gaucher cells) are known in leukemia, multiple myeloma, thalassemia and mycobacterial infections. Co-existence of Gaucher's disease with Hb E mutation is not reported to the best of our knowledge.