Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

Background: Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated.

Methods: We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis.

Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster.

Werner syndrome (WS, MIM#277700) is a very rare autosomal recessive disorder. WS clinical signs include altered distribution of subcutaneous fat, juvenile bilateral cataracts, a mask-like face and bird-like nose, trophic ulcers of the feet, diabetes mellitus, and premature atherosclerosis. The habitus is characteristic, with short stature, stocky trunk and slender extremities.

Incidence and clinical predictors of Kaposi's sarcoma among 1721 Italian solid organ transplant recipients: a multicenter study.

Kaposi's sarcoma (KS) can be a complication of solid organ transplantation, but with an important incidence rate variability in different geographical areas. Here we analyzed the incidence rate, timing and clinical correlates of KS, in a cohort of Italian solid organ transplant recipients from four distinct transplantation centers. A total of 1721 renal, heart and liver transplant recipients were recruited between 1997 and 2004.

Classic Kaposi sarcoma in northern Sardinia: a prospective epidemiologic overview (1977-2003) correlated with malaria prevalence (1934).

Background: Studies have demonstrated considerable variations in classic Kaposi sarcoma (CKS) incidence within Europe, with some of the highest incidences found in the Mediterranean area. As a Mediterranean area, northern Sardinia has a high CKS frequency.

Objective: In order to determine CKS incidence in people born in and residing in northern Sardinia, a clinical prospective epidemiologic study was carried out between 1977 and 2003 by the Department of Dermatology, University of Sassari.

Classic Kaposi's sarcoma in Sardinia: HLA positive and negative associations.

Background: The incidence of classic Kaposi's sarcoma (CKS) in northern Sardinia is one of the highest in the world.

Methods: Sixty-two patients with CKS were typed for class I and class II antigens. All patients had been born and were living in northern Sardinia.

High rate of human herpesvirus-8 seroprevalence in thalassemic patients in Italy.

Background: The potential risk of acquiring infection by the novel human herpesvirus-8 (HHV-8) through blood derivatives is still debated.

Objectives: In the present study, we determined HHV-8 seroprevalence in beta-thalassemic patients living in Italy.

Study Design: We have analysed 86 patients from Sardinia, an island characterised by a high diffusion of HHV-8, as well as 33 thalassemics from the area of Rome, where a lower rate of HHV-8 infection has been reported.