Barraquer–Simons syndrome

Barraquer-Simons syndrome
Classification and external resources
ICD-10	272.6
OMIM	608709
DiseasesDB	9697

Barraquer–Simons syndrome (or acquired partial lipodystrophy,^[1] and "Cephalothoracic lipodystrophy,"^[1] "Progressive lipodystrophy"^[1]) is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax.^[2][3]

It is named for Luis Barraquer Roviralta and Arthur Simons.^[4][5][6]

There is some evidence tying it to LMNB2.^[7]

Diagnosis

The laboratory workup is needed primarily to investigate for the presence of associated disorders (metabolic, autoimmune, and renal diseases). Every patient should have a fasting blood glucose and lipid profile, creatinine evaluation, and urinalysis for protein content at the first visit, after which he/she should have these tests on a regular basis. Although uncommon, lipid abnormalities can occur in the form of raised triglyceride levels and low high-density lipoprotein (HDL) cholesterol levels. Patients usually have decreased serum C3 levels, normal levels of C1 and C4, and high levels of C3NeF (autoantibody), which may indicate the presence of renal involvement. Antinuclear antibodies (ANA) and anti-double-stranded deoxyribonucleic acid (DNA) antibodies have reportedly been observed in some patients with acquired partial lipodystrophy. A genetic workup should be performed if the familial form of lipodystrophy is suggested. Renal biopsy is the test of choice to help diagnose the type of renal impairment in these patients. A transcutaneous procedure performed under ultrasonographic guidance, it is used to obtain renal tissue using a fine needle. Nephrologists should direct this procedure. Under light microscopy, biopsy specimens of affected areas show a loss of subcutaneous fat; relative adipocyte volume is reduced to 65% of baseline. Lipocytes are usually atrophic or are reduced in number. No infiltrates with lymphocytes have been reported.^[8]

Causes

Renal and immunologic disturbances may warrant inpatient care at times. During pregnancy, the health status of the fetus should be ascertained with modalities such as an electronic fetal monitor. Fetal health assessment is particularly important during the third trimester to reduce the risk of intrauterine fetal death associated with progressive lipodystrophy. Renal status Patients should be monitored regularly for evidence of glomerulonephritis. Glomerulonephritis can develop more than 10 years after the onset of progressive lipodystrophy. Autoimmune disorders Patients should be monitored for the development of systemic lupus erythematosus because it was reported in a few patients 2–28 years after the onset of progressive lipodystrophy. Other autoimmune disorders have also been associated with this disease.^[9]

Symptoms

Patients are born with normal fat distribution but notice a loss of subcutaneous fat in the extremities and in some cases also the trunk with early puberty, which produces a muscular appearance with prominent superficial veins. This is followed by increased fat in the face and neck as puberty is completed. The visceral fat and interfascicular intramuscular fat depots are preserved. The Kobberling subtype, sometimes referred to as FPLD1, is characterized by loss of subcutaneous adipose tissue from the extremities only, whereas Dunnigan syndrome, or FPLD2, is characterized by loss of fat from the extremities and trunk.

While the disease affects both sexes, the phenotype is much easier to discern in females, leading to ascertainment bias of female probands. Up to one third of affected women may develop acanthosis nigricans, hirsutism, menstrual irregularities, and polycystic ovaries. Overall, female patients develop diabetes and dyslipidemia earlier and more severely. For example, from one case series, affected females develop diabetes approximately 73% of the time and hypertriglyceridemia 90% of the time. In contrast, the incidence is 36% and 45%, respectively, in affected males. These observations are similar to the recently published observations of another group.^[10]

Treatment

There is no known specific drug treatment for the Lipodystrophies. Long-term use of the dopamine receptor blocking drug Pimozide has not been effective. Diet therapy has been shown to be of some value in the control of metabolic problems. The use of small, frequent feedings and partial substitution of medium-chain triglycerides for polyunsaturated fats appears to be beneficial. Plastic surgery with implants of monolithic silicon rubber for correction of the deficient soft tissue of the face has been shown to be effective. False teeth may be useful in some cases for cosmetic reasons. Long-term treatment usually involves therapy for kidney and endocrine dysfunction. If the patient has a genetic form of Lipodystrophy, genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive.^[11]

See also

• Lipodystrophy
• Laminopathy
• List of cutaneous conditions

References

1. ^ ^{a b c} Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
2. ^ Ferrarini A, Milani D, Bottigelli M, Cagnoli G, Selicorni A (2004). "Two new cases of Barraquer-Simons syndrome". Am. J. Med. Genet. A 126 (4): 427–429. doi:10.1002/ajmg.a.20623. PMID 15098243. 
3. ^ Brniteanu DD, Zbranca E (2000). "Barraquer-Simons syndrome. Report of a case and review of the literature". Revista medico-chirurgical a Societii de Medici i Naturaliti din Iai 104 (2): 155–158. PMID 12089983. 
4. ^ synd/1565 at Who Named It?
5. ^ L. Barraquer Roviralta. Histoire clinique d'un cas d'atrophie du tissue cellulo-adipeux. Barcelona, 1906.
6. ^ A. Simons. Eine seltene Trophoneurose ("Lipodystrophia progressiva"). Zeitschrift fr die gesamte Neurologie und Psychiatrie, Berlin, 1911, 5: 29-38.
7. ^ Hegele RA, Cao H, Liu DM, et al. (2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am. J. Hum. Genet. 79 (2): 383–389. doi:10.1086/505885. PMC 1559499. PMID 16826530. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1559499. 
8. ^ Griffing, George T. "eMedicine - Lipodystrophy, Acquired Partial". http://www.emedicine.com/med/TOPIC1304.HTM. Retrieved 2008-10-30. 
9. ^ Fernandez, Geover. "eMedicine - Lipodystrophy, Progressive". http://www.emedicine.com/derm/TOPIC897.HTM. Retrieved 2008-10-30. 
10. ^ Gabbay, Robert A. "eMedicine - Lipodystrophy, Generalized". http://www.emedicine.com/MED/topic3523.htm. Retrieved 2008-10-30. 
11. ^ HealthBanks - Lipodystrophy.