Myositis associated with localized lipodystrophy: an unrecognized condition?
© I. Holzapfel Publishers 2009
Received: 20 May 2008
Accepted: 24 July 2008
Published: 14 May 2009
Lipodystrophies represent a heterogeneous group of diseases characterized by altered body fat repartition and often metabolic alterations. Here we illustrate a 20 year old male with myositis in association with localized lipodystrophy. Immunohistochemical stainings revealed a regular pattern of dystrophin, dysferlin, sarcoglycans, and theletonin. Furtermore, there was no evidence of Lamin A/C deficiency. A nearly identical clinical and histological picture has been described in three patients up to now. Although it is difficult to speculate on a causative pathophysiological mechanism at this time, it is possible that this association represents an unrecognized condition.
KeywordsLipodystrophy lipoatrophy myositis myopathy muscle biopsy
Lipoatrophy, also termed lipodystrophy, is a rare condition presenting as a loss of subcutaneous fat. The disorder can occur in generalized, partial, or localized form. Total lipodystrophy can be congenital or acquired and is usually associated with other clinical features such as hyperpigmentation, acanthosis nigricans, diabetes mellitus, glomerulonephritis, and hepatopathy . For further information about inherited lipodystrophy syndromes visit "Online Mendelian Inheritance in Men" at http://www.ncbi.nlm.nih.gov/Omim. An association with muscle fibre degeneration  and dermatomyositis [3, 4] has already been described in the medical literature.
To date, histologically confirmed focal or multifocal myositis has been reported in three cases of localized lipoatrophy: In 1982, Palliyath and Garcia described a 54 year old man with a multifocal interstitial myositis associated with localized lipoatrophy isolated in the region of the right buttock . The clinical picture and the histological changes were not progressive over a period of 30 years, so the authors concluded a benign course of this hitherto not described condition. Betteley reported a localized atrophy of the subcutaneous fat of the left buttock in a 12 year old boy. In this patient, ipsilateral gluteal muscles were weak, histological examination revealed perivascular mono-nuclear cell infiltration of the skin. Muscle fibres were atrophic and areas of coagulation necrosis with lymphocyte infiltration were seen . Finally, in 1994, Creange and colleagues  described a 24 years old man with severe muscle cramps, fasciculations and atrophy localized to the right lower limb. Computed tomography revealed localized atrophy of the subcutaneous fat. A right quadriceps femoris muscle biopsy showed a pronounced infiltration of the interstitial tissue by mononuclear cells, predominating in the walls of small vessels, and around them. Our patient showed a clinical and histological picture nearly identical to these three patients. The patient described by Palliyath and colleague  was treated with prednisone 60 mg per day for three weeks without benefit, like our patient. Creange et al. did not treat their patient with steroids . Whereas the patient of Palliyath and colleagues demonstrated mild weakness of the right shoulder girdle musculature, right quadriceps, and gastrocnemius, the muscle strength was clearly not reduced in our patient. Considering the rarity of both disorders (focal myositis and localized lipoatrophy), Creange et al.  concluded that this is most likely not a chance association.
In our opinion it is difficult to speculate on a causative pathophysiological mechanism of this association, but it seems to be possible that this association represents an unrecognized condition with a benign disease course but absent response to steroid treatment. Due to a psychological strain of the patients, further research is necessary to focus on therapeutically approaches.
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