Köbberling-Dunnigan syndrome: a rare cause of generalized muscular hypertrophy

Muscle & Nerve
S WildermuthH M Meinck

Abstract

A 36-year-old woman presented with muscle hypertrophy (particularly of the calves) since puberty, occasional muscle cramps, a musculine habitus, and a loss of subcutaneous fat on limbs and trunk sparing her face, neck, and vulva. Multiple lipomas were found on her trunk, and acanthosis nigricans on her neck. Laboratory testing revealed hyperlipidemia and pathological glucose tolerance with hyperinsulinemia. Physical and laboratory findings are consistent with Köbberling-Dunnigan syndrome, a rare inherited form of lipoatrophy. The patient's mother had the same body habitus and insulin-dependent diabetes mellitus. These cases suggest that partial lipodystrophy also affects muscle and is a cause of genuine muscular hypertrophy.

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Citations

Oct 28, 2019·International Journal of Molecular Sciences·Akinori TakahashiToru Suzuki
Jun 5, 1998·The Australasian Journal of Dermatology·M M Tam, P Berger
Sep 6, 2000·The British Journal of Dermatology·S AkdenizA Gür
Jan 18, 2006·Human Molecular Genetics·Revekka L BoguslavskyHoward J Worman
Jul 2, 2014·The Journal of Clinical Investigation·Marcelo A MoriC Ronald Kahn
Oct 7, 2021·The Journal of Clinical Endocrinology and Metabolism·Vinaya SimhaK Sreekumaran Nair

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