An Extremely Rare, Atypical and Genetically-undetermined Form of Osteopetrosis.

INTRODUCTION: Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease has been observed. Radiographic features and genetic testing are commonly used to diagnose the condition. CASE PRESENTATION: In the present study, we present a case of an extremely rare, atypical and genetically- undetermined form of Osteopetrosis. CONCLUSION: This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.

Pulmonary hypertension and systemic sclerosis: the role of high-resolution computed tomography.

PURPOSE: This study sought to evaluate, by means of a retrospective analysis, the relationship between pulmonary hypertension (PH) and fibrotic interstitial lung disease (ILD) in a population of 43 patients affected by systemic sclerosis. In addition, we assessed the role of high-resolution computed tomography (HRCT) in the diagnostic and therapeutic pathway for such patients. MATERIALS AND METHODS: Forty-three patients affected by progressive systemic sclerosis (PSS) and PH underwent functional, haemodynamic and HRCT evaluations between November 2001 and May 2011. Functional evaluation was performed through respiratory function testing and spirometry. Haemodynamic assessment was done with transthoracic echocardiogram (ECG) and right heart catheterisation. Semiquantitative evaluation of radiological involvement was performed using different measures: visual score, Goh's score, Wells' score and Warrick's score. RESULTS: Of 43 patients, 16 showed fibrotic ILD after a HRCT evaluation. The main pattern of ILD was identified with nonspecific interstitial pneumonia (NSIP). Our study also evaluated the relationship among radiological, functional and haemodynamic indexes; different correlations were found to be significant, in particular, Wells' and visual scores ≥40% correlated significantly with diffusion capacity for carbon monoxide (DLCO); Wells' score also correlated significantly with percentage of predicted forced vital capacity (FVC), percentage of predicted forced expiratory volume in 1 s (FEV1) and composite physiologic index (CPI). If presence of Inoesophagopathy evaluated with HRCT was included, this sign correlated significantly both with DLCO (p=0.03) and mean pulmonary arterial pressure (mPAP) (p=0.03), considering total population. CONCLUSIONS: Our findings confirm the diagnostic role of HRCT in evaluating the extent of lung damage in systemic sclerosis. Furthermore, a significant correlation between mPAP and esophagopathy suggests a possible positive predictive value of this sign in identifying a subphenotypic category of patients affected by systemic sclerosis in whom we can find a more severe visceral impairment and a more frequent vascular involvement.