RESUMO
Rosai-Dorfman disease (RDD) is an unusual clinical entity characterized by benign pseudolymphomatous proliferation with significant histiocytic infiltration. In the present paper, extranodal RDD of the major salivary glands causing salivary hypofunction and the results of salivary gland scintigraphy and ultrasound are presented in two siblings. Case 1: a 10-year-old boy with bilateral painless masses around the parotid and submandibular glands was referred. Ultrasound examination showed bilateral, well-defined, hypoechoic solid mass lesions within both parotid glands with minimal normal parenchyma in the upper poles. Both submandibular glands were markedly hypoechoic and heterogeneous. Mass lesions within the parotid glands appeared as cold lesions with regular contours on scintigraphy. Dynamic images showed normal uptake and normal response to secretion in the upper poles of the parotid glands, corresponding with ultrasonographically normal parenchyma. Both submandibular glands showed markedly diminished uptake and secretion. Case 2: a 9-year-old boy presented with mass lesions around the submandibular glands. Ultrasound examination showed normal parotid glands and markedly hypoechoic and heterogeneous submandibular glands. Salivary gland scintigraphy showed normal uptake and secretion of parotid glands with markedly diminished uptake and secretion in both submandibular glands. There were severe carious lesions in both patients due to salivary hypofunction. Treatments of the two patients' teeth were performed. Major salivary gland involvement of RDD is important for dentists as it may cause xerostomia and can mimic dental abscess. Functional evaluation of salivary glands with scintigraphy, besides radiological and pathological techniques, will help to explain whether salivary glands are affected or not and improve the diagnostic effectiveness.
Assuntos
Histiocitose Sinusal/genética , Doenças Parotídeas/genética , Doenças da Glândula Submandibular/genética , Biópsia , Criança , Cárie Dentária/etiologia , Gengivite/etiologia , Histiocitose Sinusal/diagnóstico por imagem , Humanos , Masculino , Doenças Parotídeas/diagnóstico por imagem , Glândula Parótida/metabolismo , Cintilografia , Compostos Radiofarmacêuticos , Pertecnetato Tc 99m de Sódio , Glândula Submandibular/metabolismo , Doenças da Glândula Submandibular/diagnóstico por imagem , Dente Decíduo/patologia , Ultrassonografia , Xerostomia/etiologiaRESUMO
From personal observations, I review the genetic disorders of salivary gland development and function, including the lacrimo-auriculodentodigital (LADD) syndrome, autosomal dominant hypoplasia/agenesis of salivary and/or lacrimal glands, chronic recurrent sialadenitis, polycystic-dysgenetic disease of the parotids and salivary calculi.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Doenças das Glândulas Salivares/diagnóstico , Doenças das Glândulas Salivares/genética , Glândulas Salivares/anormalidades , Criança , Feminino , Humanos , Masculino , Doenças Parotídeas/diagnóstico , Doenças Parotídeas/genética , Glândula Parótida/anormalidades , Recidiva , SialografiaRESUMO
Polycystic (dysgenetic) disease of the parotid glands is a rare disorder with only three fully documented reports in the literature containing a total of six cases. This developmental disorder of the distal ductal system appears limited to the parotid glands of female patients and is usually bilateral. We present two further cases with a confirmed familial background to add to the literature. This is the first documented report of familial polycystic disease of the parotid glands. The pathogenesis, mode of inheritance, clinical features, histological appearance and management of this interesting condition are discussed.
