|LETTER TO EDITOR
|Year : 2021 | Volume
| Issue : 1 | Page : 87-89
Barraquer–Simons Lipodystrophy Syndrome in an Otherwise Normal Child: A Rare Case of Acquired Partial Lipodystrophy
Kananbala Sahu1, Swetalina Pradhan2
1 Department of Dermatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
2 Department of Dermatology, All India Institute of Medical Sciences, Patna, Bihar, India
|Date of Submission||29-Apr-2020|
|Date of Decision||17-May-2020|
|Date of Acceptance||11-Jun-2020|
|Date of Web Publication||31-Dec-2020|
Department of Dermatology, All India Institute of Medical Sciences, Patna, Bihar
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Sahu K, Pradhan S. Barraquer–Simons Lipodystrophy Syndrome in an Otherwise Normal Child: A Rare Case of Acquired Partial Lipodystrophy. Indian J Paediatr Dermatol 2021;22:87-9
|How to cite this URL:|
Sahu K, Pradhan S. Barraquer–Simons Lipodystrophy Syndrome in an Otherwise Normal Child: A Rare Case of Acquired Partial Lipodystrophy. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Jan 15];22:87-9. Available from: https://www.ijpd.in/text.asp?2021/22/1/87/305815
A 6-year-old girl child presented with a gradual loss of facial fat for 2 years. She was the only child of her parents with normal birth history and developmental history. There was no family history of similar disease. She had never used any drug that could cause lipodystrophy. Physical examination revealed the symmetrical loss of buccal fat pads, temporal areas, and the lower part of the face with prominent zygomatic arches and chin [Figure 1],[Figure 2],[Figure 3]. The subcutaneous fat was preserved in other anatomic regions, particularly in the lower abdomen and thighs. Her weight and height were as per age. The clinical assessment of the cardiovascular and respiratory system was normal. There was no hepatosplenomegaly, umbilical hernia, acanthosis nigricans, clitoromegaly, hirsutism, or acromegalic features which rules out the familial forms of lipoatrophy. Ophthalmic, neurological and ear, nose, and throat examination revealed no abnormality. Laboratory tests, including a complete blood count, renal and liver function tests, urine analysis, fasting glucose, HbA1c, oral glucose tolerance test, and fasting lipid profile were within normal values. The complement level (C3), C3 nephritic factor, and antinuclear antibody were within the normal range. The patient presented without renal disease, nor metabolic disorders up until our last observation. Magnetic resonance imaging (MRI) revealed atrophy of subcutaneous fat in the left temporal region and anterior to the upper and lower alveoli [Figure 4]. The subcutaneous fat of the anterior chest wall abdomen, and lower half of the body was normal. Hence, a diagnosis of Barraquer–Simons lipodystrophy was confirmed, and parents were counseled for regular follow-up.
|Figure 1: Symmetrical lipoatrophy of the face with prominent zygomatic arches and chin|
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|Figure 2: Lateral view showing the loss of buccal fat pads and lipoatrophy of temporal region|
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|Figure 4: Magnetic resonance imaging scan showing atrophy of subcutaneous fat of the temporal region and anterior to the upper and lower alveoli|
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Lipodystrophies are a group of acquired or inherited disorders which are characterized by partial to generalized fat loss. Partial lipodystrophy usually begins during the first decade of life and occurs more frequently in females. The prevalence is 1–9 in 100,000 population. There is a gradual symmetric loss of the subcutaneous tissue. Insulin resistance, diabetes mellitus, dyslipidemia, hypertension, and hepatic steatosis are common metabolic conditions associated with lipodystrophies. Barraquer–Simons syndrome is an extremely rare disorder with important clinical consequences and psychosocial effects. Approximately 250 patients have been described in the literature, the majority being of European descent. Very few cases have been reported from India. Fat loss usually starts during childhood or adolescence and may follow an acute viral infection such as measles. However, there was no predisposing factor in our case. It is characterized by the loss of the subcutaneous tissue, limited to the upper part of the body, with the face, neck, arms, thorax, and upper abdomen being affected in a cephalocaudal manner (cephalothoracic lipodystrophy). But the adipose stores of gluteal regions and lower extrimities are preserved. In our case fat loss was limited to the face, but spared thorax and upper extremities. Unlike other types of lipodystrophy, insulin resistance and its related metabolic complications appear to be less frequent (diabetes 10% and hypertriglyceridemia 30%) and are less severe. One-third of patients presented membranoproliferative glomerulonephritis and associated signs of activation of alternative complement pathway – the reduction of circulating concentrations of complement component 3 (C3), and the presence of the C3 nephritic factor which was not found in this case. Weir-Mitchell type is another variant due to the loss of fat from the face and the upper half the body resulting in a cadaverous face and marked disproportion between the upper and lower halves of the body. In our case, there was no disproportionate between the upper and lower half of the body. Molecular pathogenesis study of acquired partial lipodystrophy (APL) proposed that LMNB2 could be a mutation responsible for APL by Hegele et al. A family history is usually absent. Other autoimmune diseases such as systemic lupus erythematosus, dermatomyositis, and localized scleroderma may be associated with it., Occasional functional anomalies, such as deafness, epilepsy, and mental retardation can also be associated with the condition. However, there was no autoimmune or functional association in our case. Therapeutic approaches for APL consist of improving esthetic appearance with plastic surgery and the management of additional systemic disorders. A hypolipidemic diet plan and regular exercise are the keys. Medications are offered when necessary. Thiazolidinediones such as rosiglitazone which stimulate growth and differentiation of adipocytes and recently, metreleptin, has been approved for the treatment of metabolic derangements of lipodystrophy. Autologous fat transfer could benefit at an appropriate age to improve aesthetically. As there was no associated metabolic complication in our case, the patient was kept on regular follow-up. Our case presented with progressive fat loss limited to the face. MRI proved the diagnosis and extent of fat loss in the face with normal fat distribution on other parts of the body. All investigations to rule out metabolic complications and renal involvement revealed no abnormality. The parents were counseled about the course and prognosis of the disease and asked for regular follow-up and counseled for plastic surgery when the child will attain the appropriate age. Barraquer–Simons syndrome is an extremely rare disorder with important clinical complications and psychosocial effects. Hence, it is important for the early diagnosis and the periodic assessment of patients with APL. Close long-term follow-up is required to identify metabolic disturbances, potentially life-threatening renal problems, and other associated diseases. We report this case because of its rarity and create awareness.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot bechrological order guaranteed.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Capeau J, Magré J, Caron-Debarle M, Lagathu C, Antoine B, Béréziat VR, et al
. Human lipodystrophies: Genetic and acquired diseases of adipose tissue. Endocr Dev 2010;19:1-20.
Garg A. Clinical review#: Lipodystrophies: Genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011;96:3313-25.
Kumar R, Seema A, Aneja S. Partial lipodystrophy in a boy. Indian Pediatr 2000;37:93-6.
Fiorenza CG, Chou SH, Mantzoros CS. Lipodystrophy: Pathophysiology and advances in treatment. Nat Rev Endocrinol 2011;7:137-50.
Ferrarini A, Milani D, Bottigelli M, Cagnoli G, Selicorni A. Two new cases of Barraquer-Simons syndrome. Am J Med Genet A 2004;126A: 427-9.
Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: Report of 35 cases and review of the literature. Medicine (Baltimore) 2004;83:18-34.
Peters DK, Charlesworth JA, Sissons JG, Williams DG, Boulton-Jones JM, Evans DJ, et al
. Mesangiocapillary nephritis, partial lipodystrophy, and hypocomplementaemia. Lancet 1973;2:535-8.
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, et al
. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet 2006;79:383-9.
Payapvipapong K, Niumpradit N, Nakakes A, Buranawuti K. A rare case of acquired partial lipodystrophy (Barraquer-Simons syndrome) with localized scleroderma. Int J Dermatol 2014;53:82-4.
Torrelo A, España A, Boixeda P, Ledo A. Partial lipodystrophy and dermatomyositis. Arch Dermatol 1991;127:1846-7.
Faguer S, De Sandre-Giovannoli A, Hemery M, Lévy N, Lamant L, Arveiler B, et al
. A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis. Eur J Med Genet 2011;54:310-3.
Chong AY, Lupsa BC, Cochran EK, Gorden P. Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia 2010;53:27-35.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]