RESUMO
BACKGROUND: Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a rare genetic disorder bearing both a germline and a somatic CDC73 mutation (formerly known as HRPT2), which has been mapped to chromosome 1q25-q31. The association of jaw ossifying fibroma with primary hyperparathyroidisim (PHPT) is typical of HPT-JT. It may also include cystic and neoplastic renal abnormalities and uterine tumors. CASE DETAILS: Here, we report a case of HPT-JT with an initial presentation of declination in reproductive fitness. Extensive literature search and thorough investigation helped us parturitate the underlying syndrome, thereby predictively improving the prognosis. CONCLUSION: The features of HPT-JT are clinically difficult to ascertain because the parathyroid disease, ossifying fibroma in the jaw and other abnormalities, often occurs asynchronously and may be diagnosed and treated separately.
Assuntos
Adenoma/patologia , Fibroma/patologia , Hiperparatireoidismo/patologia , Neoplasias Maxilomandibulares/patologia , Arcada Osseodentária/patologia , Saúde Reprodutiva , Adenoma/complicações , Adenoma/diagnóstico , Adulto , Feminino , Fibroma/complicações , Fibroma/diagnóstico , Aptidão Genética , Humanos , Hiperparatireoidismo/complicações , Hiperparatireoidismo/diagnóstico , Neoplasias Maxilomandibulares/complicações , Neoplasias Maxilomandibulares/diagnóstico , Doenças das Paratireoides , Prognóstico , Doenças Raras , Proteínas Supressoras de Tumor/genética , Adulto JovemRESUMO
Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS). NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity. NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations.
Assuntos
Síndrome do Nevo Basocelular/diagnóstico , Neoplasias Maxilares/diagnóstico , Adolescente , Diagnóstico Diferencial , Feminino , Humanos , Doenças Mandibulares/diagnóstico , Doenças Maxilares/diagnóstico , Cistos Odontogênicos/diagnóstico , Costelas/anormalidades , Dente Impactado/diagnóstico , Dente não Erupcionado/diagnósticoRESUMO
Melanoma is a malignant tumor of melanocytes or their precursor cells. It is the third most common skin cancer and is one of the most biologically unpredictable neoplasms. Sunlight is an important etiological factor in cutaneous melanoma. Oral melanoma is relatively uncommon, exhibiting a definite predilection for palate and maxillary gingiva, and is twice as common in males as in females. We herewith report three cases of oral melanoma out of which two occurred on the palate and one in the maxillary gingiva. Their clinical presentations, histopathology and management are discussed.
