ABSTRACT
Rosai-Dorfman-Destombes disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare non-Langerhans cell histiocytosis of unknown cause. The disease often manifests as painless bilateral cervical lymphadenopathy associated with systemic symptoms such as fever and weight loss. Extranodal disease is also frequent and can involve any organ, mostly the skin, nasal cavity, bone, and retro-orbital tissue. Swelling of cartilaginous tissues, such as the helix of the ear or laryngeal structures, may mimic the entity known as relapsing polychondritis. Although spontaneous remission is the most expected evolution, some cases require systemic treatment with prednisone, methotrexate or cytotoxic agents, with variable rates of success. In this respect, since somatic variants in the genes involved in the mitogen-activated protein kinase (MAPK) and extracellular signal-regulated kinases (ERK) pathway have been observed to play a pathogenic role in RDD. Therefore, the use of therapies targeting these pathogenic variants appears to be a reasonable strategy. Here we present the case of a 37-year-old woman with RDD and extensive extranodal involvement that showed a rapid and complete response to the MEK inhibitor cobimetinib. LEARNING POINTS: Rosai-Dorfman-Destombes disease (RDD) may mimic the entity known as relapsing polychondritis but should be treated with drug therapy for the underlying disease.Mutations in MAPK/ERK pathway components should be determined in RDD with systemic involvement, although testing to determine every somatic mutation responsible for the disease is not available in all healthcare centres.MEK inhibitors like cobimetinib could be effective in RDD cases with severe and refractory systemic disease, even if molecular analysis has not been possible.
ABSTRACT
PURPOSE: To present an update the orofacial manifestations of granulomatosis with polyangiitis (GPA) and present a clinical case with the initial signs in the oral cavity. MATERIALS AND METHODS: A bibliographic search was performed on Pubmed with the keywords 'Wegener's granulomatosis', 'etiology', 'oral manifestations', 'oral cavity', 'gingiva'. The inclusion criteria were papers published in English in the last 10 years that made reference to clinical cases with in which the oral cavity was affected. The quality of the results was assessed with 'The 2013 Care Checklist'. RESULTS: Nineteen clinical cases were analysed. The average quality was 7.68/13 (range 5-10/13). 73.7% of patients were women, the most frequent area for the lesions was the gingiva and the most prevalent lesion was gingival hyperplasia. 68.4% of the patients had this lesion as a first sign, 21.1% as a progression and 10.5% as a recurrence. 68.4% of the lesions resolved once medical treatment was established. CONCLUSION: GPA is a multisystem disorder associated with considerable morbidity and mortality if not treated. Early diagnosis improves the prognosis. The first manifestation of the disease can be seen in the oral cavity. It is important that dentists recognise the oral manifestation in order to improve the prognosis. Key words: granulomatosis, polyangiiitis, Wegener's granulomatosis.
Subject(s)
Gingival Hyperplasia , Granulomatosis with Polyangiitis , Female , Gingiva , Granulomatosis with Polyangiitis/diagnosis , Granulomatosis with Polyangiitis/drug therapy , Humans , PrognosisABSTRACT
Medullary carcinoma of the thyroid gland accounts for only 5-10% of thyroid carcinomas. Also, metastases to the skin of malignant tumors are infrequently (2-9% of patients). In the case herein reported in a 64-year old woman, a metastatic nodule on the scalp was the presenting clinical manifestation of a medullary thyroid carcinoma. A comprehensive review of the literature was conducted for similar cases using PubMed. Only 18 cases of cutaneous metastases of medullary thyroid carcinoma have been previously reported in the literature, but skin lesions were the presenting complaint of the thyroid neoplasm in only three.
Subject(s)
Carcinoma, Medullary/pathology , Head and Neck Neoplasms/secondary , Scalp/pathology , Skin Neoplasms/secondary , Thyroid Neoplasms/pathology , Female , Humans , Middle AgedABSTRACT
We describe two cases of lipomatous endobronquial tumors diagnosed by CT. The first case showed a homogeneous fat density endobronquial nodule in the right intermediate bronchus compatible with lipoma. The second patient underwent a CT under the suspicion of a endobronquial lesion after two episodes of pneumonia localized in left lower lobe. The TC demonstrated a fat predominant nodule in the left lower lobe bronchus. The anatomopathologic study confirmed a lipomatous hamartoma with areas of mature cartilage.
. Describimos 2 casos de tumores lipomatosos endobronquiales diagnosticados mediante TC. El primer caso mostró un nódulo homogéneo de densidad grasa de 11 mm localizado en el bronquio intermediario derecho, que correspondió a un lipoma. El segundo paciente se sometió a una TC por la sospecha de lesión endobronquial luego que cursara con 2 episodios de neumonías localizadas en el lóbulo inferior izquierdo. En esta se demostró un nódulo de predominio graso con pequeñas áreas de densidad de partes blandas en el bronquio inferior izquierdo. El estudio patológico confirmó que se trataba de un hamartoma lipomatoso con áreas de cartílago maduro.
