Partial lipodystrophy and dermatomyositis

Torrelo, A.

doi:10.1001/archderm.127.12.1846

Cited by 20 publications

(20 citation statements)

References 2 publications

(2 reference statements)

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“…17 The clinical appearance in our patients, with loss of subcutaneous fat from the face and progressing to the trunk and upper limbs, is consistent with acquired partial lipodystrophy, but fever, skin lesions as described herein, and the other inflammatory manifestations we observed are not found in these types of lipodystrophy. We speculate that lipodystrophy may be the end result of chronic inflammation involving the fat directly, as in the extensive panniculitis seen in dermatomyositis or other 'connective tissue' panniculitides of children 18,19 ; alternatively, it may be due to increased expression of proinflammatory cytokines in adipose tissue, particularly interleukin 6 and tumor necrosis factor a, coupled with reduced secretion of adiponectin and leptin, as in HIV-associated lipodystrophy, 20,21 which shows a pattern of lipodystrophy similar to our patients.…”

Section: Discussionmentioning

confidence: 98%

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

Torrelo

Patel

Colmenero

et al. 2010

Journal of the American Academy of Dermatology

185

187

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Section: Discussionmentioning

confidence: 98%

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

Torrelo

Patel

Colmenero

et al. 2010

Journal of the American Academy of Dermatology

185

187

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“…Twenty-seven cases of APL have been associated with autoimmune diseases 8,17,19,31,34,42,55,88,109,116,120,124,130,137,149,171,177,180 , including 7 patients from our case series (Patients 3, 4, 12, 19, 22, 25, 32) (see Tables 1 and 2). The most common associated autoimmune disease was systemic lupus erythematosus (SLE) reported in 7 patients 42,55,88,177 .…”

Section: Association With Autoimmune Diseasesmentioning

confidence: 99%

“…Several investigators have performed subcutaneous fat biopsy from the lipodystrophic areas 11,16,20,121,165,171,173,190 . In 1 report, relative adipocyte volume was 65% in the lipodystrophic areas vs nonlipodystrophic areas 16 .…”

Section: Adipose Tissue Histopathologymentioning

confidence: 99%

Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy

Misra

Peethambaram

Garg³

2004

Medicine

246

252

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We describe clinical features, body fat distribution, and prevalence of metabolic abnormalities in 35 patients with acquired partial lipodystrophy (APL) seen by us over 8 years, and also review 220 cases of APL described in the literature. Based on the review and our experience, we propose that the essential diagnostic criterion for APL is the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the "cephalocaudal" sequence, sparing the lower extremities. Analysis of the pooled data revealed that female patients were affected approximately 4 times more often than males. The median age of the onset of lipodystrophy was 7 years. Several autoimmune diseases, in particular systemic lupus erythematosus and dermatomyositis, were associated with APL. The prevalence rates of diabetes mellitus and impaired glucose tolerance were 6.7% and 8.9%, respectively. Approximately 83% of APL patients had low complement (C) 3 levels and the presence of polyclonal immunoglobulin C3 nephritic factor. Twenty-two percent of patients developed membranoproliferative glomerulonephritis (MPGN) after a median of approximately 8 years following the onset of lipodystrophy. Compared with patients without renal disease, those with MPGN had earlier age of onset of lipodystrophy (12.6 +/- 10.3 yr vs 7.7 +/- 4.4 yr, respectively; p < 0.001) and a higher prevalence of C3 hypocomplementemia (78% vs 95%, respectively; p = 0.02). The pathogenesis of fat loss and MPGN in patients with APL remains unclear, but activation of an alternate complement pathway has been implicated. Treating the cosmetic disfigurement by surgical procedures has yielded inconsistent results. The use of thiazolidinediones to treat fat loss in patients with APL remains anecdotal. Prognosis is mainly determined by renal insufficiency due to MPGN.

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“…The amyloidoses represent a group of clinical disorders of diverse etiologies that have as a common pathophysiologic denominator the deposition of misfolded protein-based amyloid fibrils in the interstitial space of various organs (10). Although the features in our patient are not typical of cardiac amyloidosis, the (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16). The images are captured in series, 12 min after a bolus dose of gadolinium.…”

Section: Discussionmentioning

confidence: 95%

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome

Senniappan

Hughes

Shah

et al. 2013

Journal of Pediatric Endocrinology and Metabolism

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Mutations in SLC29A3 lead to pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy plus syndrome. We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes, and cardiomyopathy. A 12-year-old girl with PHID syndrome presented with shortness of breath, hepatosplenomegaly, and raised erythrocyte sedimentation rate and C-reactive protein. An echocardiogram showed biventricular myocardial hypertrophy, and cardiac magnetic resonance imaging showed circumferential late gadolinium enhancement of the myocardium. No systemic amyloid deposits were observed on a whole-body serum amyloid P scintigraphy scan. Abdominal ultrasound revealed intra-abdominal fat surrounding the solid organs, suggesting a possibility of evolving lipodystrophy with visceral adiposity. PHID syndrome is a novel monogenic autoinflammatory syndrome (AIS) associated with severe elevation of serum amyloid. Lipodystrophy, cutaneous sclerodermatous changes, and cardiomyopathy were also present in this case. In contrast to other AIS, blockade of interleukin-1 and tumor necrosis-α was ineffective.

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Partial lipodystrophy and dermatomyositis

Cited by 20 publications

References 2 publications

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome

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