Le Hir, P.; Marsot-Dupuch, K.; Bigel, P.; Elbigourmie, T.M.; Jacquier, I.; Brunereau, L.; Tubiana, J.M.
We describe the MRI features of a rhinoscleroma with orbital extension. This benign bacterial and granulomatous lesion of the paranasal sinuses gave homogeneous low intensity on T2-weighted images and enhanced with gadolinium. It could simulate a malignant sinonasal tumour or a fungal sinusitis; the diagnosis must be considered in patients from endemic areas. (orig.). With 3 figs
Full Text Available Rhinoscleroma is a rare infection in developed countries; although, it is reported with some frequency in poorer regions such as Central Africa, Central and South America, Eastern and Central Europe, Middle East, India and Indonesia. Nowadays, rhinoscleroma may be erroneously diagnosed as mucocutaneos leishmaniasis, leprosy, paracoccidioidomycosis, rhinosporidiasis, late syphilis, neoplasic diseases or other upper airway diseases. From 1996 to 2003, we diagnosed rhinoscleroma in eight patients attended in the Dermatologic and Transmitted Diseases service of "Cayetano Heredia" National Hospital, in Lima, Peru. The patients presented airway structural alterations producing nasopharyngeal, oropharyngeal and, in one patient, laryngeal stenosis. Biopsy samples revealed large vacuolated macrophages (Mikulicz cells in all patients. Ciprofloxacin 500 mg bid for four to 12 weeks was used in seven patients and oxytetracycline 500 mg qid for six weeks in one patient. After follow-up for six to 12 months the patients did not show active infection or relapse, however, all of them presented some degree of upper airway stenosis. These cases are reported because of the difficulty diagnosing the disease and the success of antibiotic treatment.O rinoscleroma é uma infecção rara nos países desenvolvidos, no entanto, tem sido relatado com alguma freqüência nas regiões pobres da África Central, América Central e do Sul, Europa Central e Oriental, Oriente Médio, Índia e Indonésia. A doença pode ser erroneamente diagnosticada como leishmaniose mucocutânea, hanseníase, paracoccidioidomicose, rinosporidiose, sífilis tardia, neoplasias ou outras doenças que afetam a via respiratória superior. No período de 1996 a 2003, foram diagnosticados oito casos de rinoscleroma no serviço de Doenças Dermatológicas e Infecciosas do Hospital Nacional "Cayetano Heredia", em Lima, Peru. Os pacientes apresentaram alterações estruturais das vias respirat
Full Text Available Rhinosleroma is a chronic destructive bacterial infection of the nose and upper respiratory airways, caused by klebsiella rhinoscleromatis. We report a case of 22 years old male, who presented with symptoms of nasal obstruction, both sides due to bilateral nasal masse s of 1 year duration. Patient underwent all the necessary investigation, including biopsy. Biopsy revealed the histological diagnosis of rhinoscleroma. Medical management was given to the patient, which is adequate to effectively cure the patient, unless r ecurrence occurs.
Gilberto Marrugo Pardo
Full Text Available The respiratory scleroma is a rare granulomatous disease in the infantile population caused by Klebsiella rhinoscleromatis. The nose is the most cornmon site of infection, although any part of the upper or lower respiratory tract could be affected. The rate of occurrence is probably associated with different factors and the cellular immunity seems to be impaired in these patients. The disease developed three stages with distinct clinical and histopathologic features. The diagnosis is based on the c1inical history but bacterial culture as well as biopsy, are conclusive tests. A retrospective study was made at the Hospital de la Misericordia in Bogotá 1989 to 2001 in which three patients were included. The mean age of these patients was 12.6 years adn they presented nasal and laryngotracheal manifestations. The diagnosis was confirmed by histopathology. Those patients received a specific treatment and oral antibiotics were administered during six months with satisfactory evolution. Rhinoscleroma should be suspected in patients who come from endemic areas.
Full Text Available We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, which encodes human equilibrative nucleoside transporter-3 (hENT3. Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis. With the exception of insulin-dependent diabetes and mild finger and toe contractures in one sibling, the two patients with nasal granulomatous histiocytosis studied here displayed none of the many SLC29A3-associated phenotypes. This mild clinical phenotype probably results from a remarkable genetic mechanism. The SLC29A3 frameshift deletion prevents the expression of the normally coding transcripts. It instead leads to the translation, expression, and function of an otherwise noncoding, out-of-frame mRNA splice variant lacking exon 3 that is eliminated by nonsense-mediated mRNA decay (NMD in healthy individuals. The mutated isoform differs from the wild-type hENT3 by the modification of 20 residues in exon 2 and the removal of another 28 amino acids in exon 3, which include the second transmembrane domain. As a result, this new isoform displays some functional activity. This mechanism probably accounts for the narrow and mild clinical phenotype of the patients. This study highlights the 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic.