Diabetes lipoatrófica. Un reto terapéutico

Congenital generalised lipodystrophy is a rare autosomal recessive disorder characterised by a marked deficiency of adipose tissue and usually recognised at birth. This disorder is associated with early development of metabolic complications such as hypertriglyceridemia, hepatic steatosis, and insulin resistance. These complications ultimately lead to fatal events as a consequence of early atherosclerosis, lipoatrophic diabetes and hepatic cirrhosis. The authors report the case of a patient diagnosed, based on clinical and laboratory findings, in the first year of life. The established diagnosis was then confirmed by identifying a mutation in the BSCL2 gene. Because the hypertriglyceridemia and diabetes were refractory to treatment, the authors present this case in order to reflect on the best therapeutic management of this pathology.     

Case for diagnosis

Idiopathic Atrophoderma of Pasini and Pierini (IAPP) is a rare, exclusively cutaneous disease. It is more frequent in females, with incidence peak in the second and third decades of life. The etiopathogenesis remains unknown. IAPP most commonly affects the back, abdomen and proximal regions of the limbs. Lesions may be rounded, oval or circular; single or multiple. The evolution is variable and the course is initially progressive. Collagen changes such as atrophy, thinning, condensation and sclerosis may be observed in the papillary dermis. This paper describes a case of Idiopathic Atrophoderma of Pasini and Pierini with histopathologic findings.