Benign chondroid syringoma of the orbit: a rare cause of exophtalmos

Chondroid syringoma (CS) of the orbit is an extremely rare benign neoplasm. To the best of our knowledege, this is the second case reported in the english litérature

Polyostotic fibrous dysplasia with craniofacial localization presenting with frontal lobe compression in a 14-year-old girl

We describe a rare case of polyostotic fibrous dysplasia with craniofacial localization associated with involvement of the spine and extremities. A 14-year-old girl presented with progressive headache, left frontal swelling, exophthalmos of the left eye, deformity and palpable mass in the left frontal area. Cranial computerized tomography revealed extensive involvement of all cranial bones except right frontal and right parietal bones. Most of the facial bones were invaded. Especially, there was the involvement of ethmoidal air sinuses and frontal sinus also. Computerized tomography showed left frontal lobe compression. In addition, the spine and bones of the extremities were involved in the patient. Craniofacial approach was planned. Cranial surgery was performed by an extradural frontal approach. Firstly, the frontal cyst was excised. For left frontal lobe decompression, we removed successfully all the abnormal bones causing mass effect and frontal deformity. Secondly, facial surgery was performed with external approach. An attempt to remove all of the involved bone is necessary, as the lesion may recur and grow if a portion of dysplastic bone is left in place. However, the present case suggests that removal of all the involved bones in the polyostotic fibrous dysplasia may be possible in spite of extensive involvement. In this situation, it may be removal of only abnormal bones responsible for compression of affected neural elements is indicated

Defibrotide activity in experimental frostbite injury

The pathogenesis of frostbite injury has not been completely elucidated although the available evidence suggests it is an inflammatory reaction following reperfusion injury. Defibrotide given i.p, at 40 mg/kg/ day for three days to rabbits, the ears of which were subjected to frostbite, decreased the presence of inflammatory cells (mast cells -76%; neutrophils -40.4%) and increased prostaglandin I-2 (PGI(2)) (as 6-Keto-PGF(1 alpha)) in the involved skin. Thromboxane A(2) (TxA(2)) (as TxB(2)) was unaffected. These data strengthen the view that an inflammatory process is the underlying cause of frostbite injury and that Defibrotide is active in pathological situations involving an inflammatory process like in frostbite

Eicosanoids and inflammatory cells in frostbitten tissue: Prostacyclin, thromboxane, polymorphonuclear leukocytes, and mast cells

The pathophysiology of cold injury is still controversial. An inflammatory process has been implicated as the underlying mechanism and certain anti-inflammatory substances such as ibuprofen and acetylsalicylic acid have been used in the clinical treatment of frostbite injury. It has been postulated that the progressive ischemic necrosis is secondary to excessive thromboxane A(2) production, which upsets the normal balance between prostacyclin (prostaglandin Ig) and thromboxane A(2). It was aimed to clarify the pathophysiology of cold injury in this study. Twenty-one New Zealand White rabbits, each weighing 1.2 to 2.9 kg, were divided into control (n = 10) and frost bitten (n = 11) groups the randomly. The rabbit ears in the frostbitten group were subjected to cold injury, and the levels of thromboxane A(2) (as thromboxane B-2) and of prostaglandin I-2 (as 6-keto-prostaglandin F-1 alpha) and the number of inflammatory cells (polymorphonuclear leukocytes and mast cells) were measured in normal and frostbitten skin of rabbit ears. The levels of 6-keto prostaglandin F-1 alpha and thromboxane B-2, the stable metabolites of prostaglandin I-2 and thromboxane A(2), respectively, were increased in a statistically significant way (p < 0.002) by frostbite injury; however, thromboxane B-2 increased more than 6-keto prostaglandin F-1 alpha. Polymorphonuclear leukocytes and mast cells, absent in normal skin, were present in the frostbitten skin. There was a statistically significant (p < 0.01) correlation between the time a rabbit ear was maintained at below -10 degrees C and skin survival and between the weights of rabbits and skin survival (p < 0.024). All these findings suggest that inflammation is involved in frostbite injury; a decrease in prostaglandin I-2/thromboxane A(2) ratio could be one of the factors leading to necrosis; the bigger the animal, the better its ability to counter frostbite

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation

Setleis syndrome is characterized by bitemporal scar-like lesions and other characteristic facial features. It results from recessive mutations that truncate critical functional domains in the basic helix-loop-helix (bHLH) transcription factor, TWIST2, which regulates expression of genes for facial development. To date, only four nonsense or small deletion mutations have been reported. In the current report, the clinical findings in a consanguineous Turkish family were characterized. Three affected siblings had the characteristic features of Setleis syndrome. Homozygosity for the first TWIST2 missense mutation, c.326T>C (p.Leu109Pro), was identified in the patients. In silico analyses predicted that the secondary structure of the mutant protein was sustained, but the empirical force field energy increased to an unfavorable level with the proline substitution (p.Leu109Pro). On a crystallographically generated dimer, p.Leu109 lies near the dimer interface, and the proline substitution is predicted to hinder dimer formation. Therefore, p.Leu109Pro-TWIST2 alters the three dimensional structure and is unable to dimerize, thereby hindering the binding of TWIST2 to its target genes involved in facial development