Generalised congenital lipodystrophy with myopathy (Q88698)

Congenital generalised lipodystrophy is a rare autosomal recessive disease, characterised by almost complete absence of adipose tissue at birth or during early infancy. Main clinical features are generalised muscular hypertrophy and consequently a markedly muscular appearance, severe insulin resistance and hypertriglyceridaemia. Other manifestations include acanthosis nigricans, hepatomegaly due to hepatic steatosis, splenomegaly, intellectual disability and hypertrophic cardiomyopathy, and multiple focal lytic lesions in the appendicular bones. Congenital generalised lipodystrophy has been linked with variants in four genes, causing four different phenotypes with some overlapping clinical manifestations.