A clinical case of Barraquer-Simons syndrome

Abstract

Barraquer-Simons syndrome (SBS) belongs to the groupof lipodystrophy with complex etiology and pathophysiology and is characterized by progressive loss of subcutaneous fat, presumably related to autoimmune destruction of adipocytes. SBS is frequently associated with autoimmune disorders. Its first signs are found in childhood or puberty. It is characterized by gradual onset from the face with subsequent extension of the pathological process downwards without the involvement of the lower extremities. At the same time, there is a clear delimitation between the lipodystrophic and unaffected zones. The diagnosis of SBS is mainly based on clinical manifestations. Laboratory work-upis needed mostly to clarify any concomitant disorders. We describe a rare clinical case of the Barraquer-Simons syndrome in a 61-year-old woman, associated with chronic glomerulonephritis and C3-hypocomplementemia. The disease manifested at the age of 11 years with the fat loss in the face area. No familial history of SBS could be identified. Among the concomitant diseases, chronic glomerulonephritis and bilateral retinal angiopathy are of particular interest. The laboratory assessments showed proteinuria and microhematuria in the urine analysis and decreased C3 component of the complement in blood chemistry analysis. The skin pathology was represented by atrophy of the skin and soft tissues in the face, neck, upper limbs and trunk areas, with a clear delimitation in the upper third of the thighs, where normal subcutaneous fat was preserved. There was pronounced skin hypotrophy in the face area, with face disfiguration resembling a "dead man's face". To diagnose the Barraquer-Simons syndrome, in addition to the assessment of clinical manifestations, we used non-invasive diagnostic methods and the results of histological examination of a skin biopsy samples (the description of the specimen is given). Patients with SBS should be followed upwith the monitoring of their clinical and biochemical profiles and need an in-depth comprehensive examination by medical specialists to identify and treat their concomitant disorders.