Endocrine Abstracts

Some laminopathies associate both progeria and sclerodermic components (Am J Med Genet A 2006 Hennekam, J Cell Sci 2008 Sagelius), but most sclerodermic syndromes are not associated to LMNA mutations despite the presence of nuclear envelope antibodies, mainly directed to lamin (PNAS 1983 McKeon, Eur Respir J 2011 Dib).A 15-th year old girl was referred for severely imbalanced diabetes and a voracious appetite interpreted as bi...