Rosai Dorfman disease of the parotid and submandibular glands: salivary gland scintigraphy and oral findings in two siblings.
ABSTRACT 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.
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ABSTRACT: Background: Rosai-Dorfman disease (RDD) is a rare benign idiopathic histiocytic proliferation. Most commonly reported cases are lymph nodal. Only 30-40% of cases occur in extranodal sites. Although the morphological features of RDD are well documented, there is limited information about the morphometric variations in the histiocytes of this entity. Method: Twenty-two cases of RDD diagnosed on fine-needle aspiration cytology (FNAC) were retrieved from the archives. Both Papanicolaou- and May-Grünwald-Giemsa-stained slides were available for evaluation in all cases. Nuclear area, diameter and histiocyte size were measured taking reactive histiocytes as controls. Results: Among the 22 patients (male/female ratio 3:2; age range 5-55 years, mean 26 years), 3 cases were extranodal and 19 cases were nodal. The nodal sites included cervical, axillary, inguinal and submandibular lymph nodes. The extranodal sites were the retroperitoneum, mediastinum and skin. The most common clinical presentation was enlarged lymph nodes. Cytological features included numerous large benign histiocytes with emperipolesis. All the morphometric parameters were significantly (p < 0.01) higher in RDD histiocytes than in histiocytes in the reactive lymph node. Conclusions: In view of the rarity of the disease and the variable clinical presentation in RDD, accurate diagnosis is necessary. This is the first study to document the morphometric parameters of RDD histiocytes and their comparison with histiocytes in the reactive lymph node. © 2013 S. Karger AG, Basel.Acta cytologica 10/2013; · 1.56 Impact Factor
Article: H syndrome: The first 79 patients.[Show abstract] [Hide abstract]
ABSTRACT: H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3. We sought to investigate the clinical and molecular findings in 79 patients with this disorder. A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients with allelic disorders. For 31 patients described by others, data were gathered from the medical literature. The most common clinical features (>45% of patients) were hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature. Insulin-dependent diabetes mellitus and lymphadenopathy mimicking Rosai-Dorfman disease were each found in approximately 20%. Additional systemic features were described in less than 15% of cases. Marked interfamilial and intrafamilial clinical variability exists. Twenty mutations have been identified in SLC29A3, with no genotype-phenotype correlation. In the 31 patients described by others, data were collected from the medical literature. H syndrome is a multisystemic disease with clinical variability. Consequently, all SLC29A3-related diseases should be considered a single entity. Recognition of the pleomorphic nature of H syndrome is important for diagnosis of additional patients.Journal of the American Academy of Dermatology 10/2013; · 5.00 Impact Factor