Barraquer–Simons syndrome
Barraquer-Simons syndrome is a rare childhood diseases characterized by 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. It is a rare form of progressive lipodystrophy or partial lipodystrophy of the cephalothoracic type. It is also known as acquired partial lipodystrophy.
The disease is acquired of unknown etiology with onset in childhood and more common in females than the males.
Lipodystrophy is thought to be caused by low C3 serum complement levels and presence of a C3 nephritic factor which activate C3. C3 nephritic factor induces the lysis of adipocytes by secreting adipsin. Lipodystrophy is often associated with systemic lupus erythematosus, dermatomyositis, and membranoproliferative glomerulonephritis.
Patient present with the history of progressive loss of fat, which first involves the face, spreads distally to the neck, arms, and trunk; the lower part of the body is usually spared. On physical examination the face appears cachectic, absent buccal fat pads with prominent zygoma and chin, deeply sunken eyes, numerous wrinkles lying over the cheeks , breast are underdeveloped and no muscular hypertrophy.
A diagnosis of Barraquer-Simons syndrome is based on clinical finding and laboratory examination includes; high triglyceride levels , decreased serum C3 level with normal C1 and C4, high levels of C3NeF (autoantibody) , presence of antinuclear antibody and anti-double-stranded deoxyribonucleic acid (DNA) antibodies and abnormalits of serum creatatine and blood glucose .
There is no known specific drug treatment for the diseases. Symptomatic therapy should be prescribed in progressive lipodystrophy patients. In some patient surgical care (plastic surgery) of face has shown to be effective. Long-term use of the dopamine receptor blocking drug Pimozide is used in some clinical trails.
The prognosis for progressive lipodystrophy is correlated with the renal complications and the onset of renal failure.
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Filed Under: Endocrine
Pathogenesis,Little corrected: Almost all patients with acquired partial lipodystrophy have low levels of serum C3 accompanied by detectable levels of a circulating polyclonal IgG called C3 nephritic factor. C3 nephritic factor stabilizes the enzyme C3 convertase (C3b,Bb), which splits C3, causing unopposed activation of the alternative complement pathway and excessive consumption of C3. The synthesis of C3b,Bb also involves factor D (adipsin), which is produced mainly by adipocytes. C3 nephritic factor–induced lysis of adipocytes that express factor D may be involved in the pathogenesis of this form of lipodystrophy. However, why adipose tissue in the legs is spared and whether autoimmunity is triggered by viral or other infections remain unclear.
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