Capillaroscopic findings in a case of Hajdu-Cheney syndrome.

Hajdu-Cheney syndrome (HCS) is a rare disease which causes osteoporosis, digit shortening, and early tooth loss. In a young HCS female patient, the nailfold capillaroscopy showed reduced capillary height and reduced density in all affected fingers. Capillaroscopy could improve follow-up and therapy assessment in HCS. Hajdu-Cheney syndrome (HCS) is a very rare connective tissue disease characterized by osteoporosis, early dentition loss and a particular phenotype as a result of enhanced NOTCH2 signaling. The pathogenesis of bone resorption and osteoporosis is not fully understood. The altered angiogenesis may play a role in acroosteolysis. We performed capillaroscopy in order to assess the microvascular involvement in a 21-year-old female patient with sporadic HCS. The patient presented with severe parodontopathy, acroosteolysis, and clubbing of four fingers and three toes. Hand radiographs showed periarticular osteoporosis and asymmetric bony involvement with acral resorption and/or transversal lucency bands in several fingers. Early collagen-vascular diseases were ruled out by clinical and ancillary examinations, including immunology and immunoblot for systemic sclerosis. Nailfold capillaroscopy showed reduction of capillary height and density in all affected fingers. Notably, in the fingers with acral resorption, many capillaries were dilated, while in the ones with radiolucency band, capillary dilation was a rare finding. In clinically unaffected fingers, the capillaroscopic findings were normal.To our knowledge, this is the first report of capillaroscopic findings in HCS. The nailfold capillaroscopic aspect reflects the involvement of acral vessels in HCS; thus, capillaroscopy may represent an early diagnostic tool as well as a means of therapeutical assessment. Repeated capillaroscopy in HCS may also add to the understanding of its pathogenesis.

The influence of technical factors on sonoelastographic assessment of solid breast nodules.

PURPOSE: The aim of the study was to assess the influence of technical factors and/or lesion characteristics on the final elastographic score in solid breast nodules. MATERIALS AND METHODS: Patients with solid breast masses examined between May 2007 and May 2008 in the Radiology Department of Cluj District University Hospital were included in the study. All lesions were examined with conventional ultrasound, Doppler ultrasound and sonoelastography, according to a preset protocol. The influence of the following factors on the elastographic score was evaluated: type of section (sagittal versus transverse); size of region of interest (small versus large); amplitude and frequency of movement; initial compression (light versus strong); angulation (perpendicular versus angulated transducer); characteristics of the lesion (size and location). The reference diagnosis was the histopathology diagnosis and, in twenty cases, short-term follow-up. RESULTS: Ninety-two patients with a mean age of 48.11 years and 101 breast nodules were included in the study. The overall sensitivity and specificity for elastography were 79 % [68-88 %] and 79 % [65 - 89 %], respectively, with a negative predictive value of 74 % [60-85 %] and a positive predictive value of 84 % [72-91 %]. The following factors did not influence the elastographic score: type of section (scores on transverse and longitudinal section, Z = -0.641, p = 0.552); the amplitude and frequency of movements during the elastographic examination (Cochran's Q concordance = 0.706, p = 0.872); strong initial compression in the case of benign nodules (Z = 0.000, p = 1.000); size of the lesions. Of the elastographically benign nodules, 9 were false negative and of the 46 elastographically malignant nodules, 12 were false positive. The following factors influenced the elastographic scores: size of the region of interest (the scores were significantly different when small or large region of interest was used, Z = -0.671, p < 0.0001); transducer angulation (Z = -5.42, p < 0.0001); strong initial compression in the case of malignant nodules (Z = -6.044, p < 0.0001) and the location of the mass in the vicinity of the chest wall. CONCLUSION: The most important factors that influence the final elastographic score, leading to false negative results, are the size of the region of interest, the initial compression and angulation of the transducer, while the frequency and amplitude of movement during the examination proved to be of no importance as long as the images were obtained within a range of assessment usefulness. Changing the scanning parameters never led to false positive results in the case of malignant breast masses.