Lipodystrophies are an immense group of genetic or acquired metabolic disorders that are characterized by varying degrees of body fat loss and in some instances localized accumulation of subcutaneous fat. Lipodystrophies are often tightly linked with profound metabolic complications; this strong bond emphasizes and reinforces the significance of adipose tissue as a dynamic endocrine organ. The extent of fat loss determines the severity of associated metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. The lipodystrophies can be divided into generalized, partial or local, depending on the degree and locality of the observable fat loss; moreover, the generalized and partial divisions can be partitioned further into inherited or acquired forms. The major genetic factors in the generalized forms of the lipodystrophies, particularly Congenital generalized lipodystrophy (CGL)-Berardinelli-Seip syndrome, are the AGPAT2, BSCL2, caveolin 1 (CAV1) and polymerase-I-and-transcriptrelease factor (PTRF) genes. In the acquired forms, genes such as LMNA, PPARG, CIDEC (cell-death-inducing DNA fragmentation factor a-like effector c) and PLIN1 are heavily involved in familial partial lipodystrophy (FPLD) type 2 (also known as the Dunnigan-Variety) and WRN along with RECQL5 in Werner Syndrome (WS). Autoimmune causes are particularly noted in acquired partial lipodystrophy (APL)-Barraquer-Simons syndrome and in AGL-Lawrence syndrome; panniculitis has been shown to have a substantial role in the former as well as in other forms of localized lipodystrophies. Patients with human immunodeficiency virus (HIV) exposed to protease inhibitors, nucleoside reverse transcriptase inhibitors (NRTIs) (for example, zidovudine and stavudine) or non-nucleoside reverse transcriptase inhibitors (NNRTIs) (for example, efavirenz) while undergoing Highly Active Antiretroviral Therapy (HAART) have led to the current most-prevalent form of the lipodystrophies: lipodystrophy in HIV-infected patients (LD-HIV) and HAART-associated lipodystrophy syndrome (HALS).

No abstract

Genomics medicine and molecular genetics are experiencing a surge of interest as well as a push for a more prominent role in mainstream medicine. This, coupled with the advancement of next-generation sequencing, along with a national, if not global, steering of funding to support the advancement and development of genetics is suggesting that we are entering a new age of medicine. As this push begins to gain some momentum, the impact of genomics medicine on clinical utility and the influence of supporting data on genes that make their way from research to diagnostic medicine are worth reviewing.

Adenomatoid tumour is a benign entity which occurs most commonly in the female and male genital tract. In females they cannot be distinguished clinically or radiologically from other entities such as leiomyoma; histology is required and intraoperative frozen section can be considered. Resection can be challenging when the growth pattern is diffuse. We report the finding of multiple peritoneal adenomatoid tumors discovered intra-operatively during a hysterectomy procedure for cervical squamous cell carcinoma (SCC) and ovarian fibromas. The multifocality raised concerns for a metastatic process. All visible deposits were successfully excised and histology confirmed multi-focal adenomatoid tumors. This case highlights a benign differential for an alarming intra-operative presentation, which could be important for guiding management and extent of surgical resection, especially where fertility is a concern.