Dental and periodontal alterations in Berardinelli-Seip syndrome

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip congenital lipodystrophy (BSCL), is a rare disorder characterized by the absence of body fat and resistance to insulin. Other manifestations, such as acanthosis nigricans, hepatomegaly, hyperandrogenism, muscular hypertrophy, and diabetes mellitus may be seen. Although the general clinical picture of this disease has already been characterized, there has yet been no description of the dental manifestations of individuals with this disease.

Eight patients with BSCL were assessed (4 adults and 4 children/adolescents), with ages ranging between 4 and 35 years, of which 6 had diabetes mellitus. Gingival bleeding index (GBI) was measured and periodontal probing, caries detection and visual examination of gingival volume were performed.

GBI was variable and was related to poor oral hygiene. There was a marked presence of caries and no alteration in gum tissue growth was observed. Important anomalies were detected in the periodontal examination. The patients over the age of 30 years had an aggressive and generalized form of periodontal disease, uncommon for this age. The etiology of these alterations may be the diabetes mellitus present in these patients since childhood.

We concluded that a predisposition to caries must be reviewed and periodontal disease must be systematically investigated in individuals with BSCL, since periodontitis may be seen along with the numerous systemic complications.