1,721,007 research outputs found
[Mandibular median cyst. Report of a case with probable odontogenic origin].
No full textThe Authors report a case of an incidentally discovered mandibular cyst in a 40-year-old man. X-ray examination revealed an intramandibular symmetric radiolucency extending from the right II molar to the left II one; it was not connected to the root apices of residual teeth, but contained three sopranumerary tooth buds in incisive area. Histology showed a cyst lined-up by stratified squamous epithelium, with focal orthokeratinization. The clinico-radiographic and histologic findings were consistent with a median mandibular cyst, unusually large; the presence of medially located denticles inside the cyst strongly suggested an odontogenic origin
Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.
No full textCranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure. Herein, we describe a new patient with cranio-ectodermal dysplasia. Unlike previously reported cases, this 4-year-old child presented with tubulo-interstitial nephropathy associated with liver cystic disease and elevated liver enzymes. The liver biopsy demonstrated congenital hepatic fibrosis secondary to ductal plate malformation. The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes
Long-term survival in a case of ETANTR with histological features of neuronal maturation after therapy.
No full textEmbryonal tumor with abundant neuropil and true rosettes (ETANTR) is a rare
subtype of primitive neuroectodermal tumors and one of the most aggressive brain
tumors in children. The neoplasm harbors a specific genetic alteration,
amplification of the miRNA cluster C19MC at 19q13.42. We report a case of a
21-month-old boy with a mass in the left fronto-opercular region. The lesion was
partially resected and pathology examination revealed an ETANTR with
immunoreativity for LIN28A protein and amplification of the C19MC locus. The
child received the PNET infant indications followed by high-dose thiotepa which
resulted in a significant reduction of the mass. Subsequently, a second operation
was carried out and the residual mass removed. Histology at this time showed a
low-grade lesion composed of neuronal cells ranging from neurocytes to ganglion
cells embedded in abundant neuropil with no immature embryonal component and
multilayered rosettes. In addition to these features, a decrease in the number of
nuclei with amplification of the C19MC locus was also observed. Thirty-one months
after the second operation, the patient is alive and well. Such long-term
survival could be explained by neuronal maturation induced by therapy associated
with reduction of neoplastic cells with amplification of C19MC locus. This case
suggests that the induction of differentiation may represent an optimal treatment
strategy for very aggressive malignancies as ETANTR
Protenuria in SLE: is it always lupus?
No full textProteinuria is one of the most typical manifestations of kidney involvement in Systemic Lupus Erythematosus (SLE). We report the case of a 23-year-old woman with a 6-year-long history of SLE presenting with proteinuria after a three-year remission on hydroxychloroquine. Kidney histological examination showed alterations inconsistent with lupus nephritis and suggestive of hydroxychloroquine toxicity or Fabry disease. The latter was confirmed by genetic assay
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