Barraquer-Simons Syndrome Associated with Myopathy - A Rare Entity

Dear Editor,

Barraquer-Simons syndrome or acquired partial lipodystrophy (APL) is a rare disorder that involves the loss of subcutaneous fat from the face, arms, and upper trunk, with normal or enhanced subcutaneous fat in the lower trunk and legs. A 36-year-old male presented with a history of progressive hollowing of the shoulder and chest, later involving the back of the upper trunk, since the age of 14 years. The lesions were asymptomatic, and there were no systemic symptoms. There was no illness or drug intake prior to the onset of the lesions. He gave no history of similar complaints among family members. For the past 1½ years, he had been experiencing pain over the muscles of the upper limbs and trunk. On examination, there were multiple ill-defined non-tender depressions and delling of skin with sloping edges, with subcutaneous atrophy but no induration or surface changes, distributed over the presternal area, infrapectoral region, shoulder region bilaterally, interscapular region, and the upper midline of the back of the trunk [Figures 1 and 2]. Muscles of the upper back, deltoid, and pectoral muscles appeared hypertrophied, and there was pain on deep palpation [Figures 1 and 2]. The face, lower trunk, and lower limbs were uninvolved. The systems were within normal limits.

Figure 1.

Depression and delling of skin in presternal region, infrapectoral region with hypertrophy of pectoral muscles

Figure 2.

Depression and delling of skin in interscapular region, midline of back with hypertrophy of upper trunk muscles

On investigations, hemogram, liver function, and renal function tests were within normal limits. Viral markers were negative. Serum C3 levels were low. Serum aldolase level was elevated to 130 mU/L (normal 22-59 mU/L). CPK and LDH levels were normal. The ANA profile was normal and the rheumatoid factor was negative. Nerve conduction study was normal. A magnetic resonance imaging (MRI) muscle study showed relatively hypertrophied muscles with atrophic changes with minimal myopathy. Electromyography (EMG) showed subtle myopathic processes. A skin biopsy was performed from the depressions in the skin, which revealed reduced thickness of the subcutis along with very few atrophic adipocytes [Figure 3] and there were also some areas of atrophied adipocytes surrounded by collagen [Figure 4]. This patient presented with depressions and delling of the skin from the age of 14 years, involving the trunk and upper limbs, but sparing the lower trunk, and lower limbs followed by hypertrophy of the muscles. Serum C3 levels were low. Serum aldolase was elevated, and MRI and EMG showed hypertrophied muscles with minimal myopathy. Skin biopsy showed atrophy of subcutaneous tissue with atrophied adipocytes surrounded by collagen. Therefore, we made a diagnosis of Barraquer-Simon syndrome, or APL associated with myopathy.

Figure 3.

Skin biopsy showing loss and atrophy of subcutaneous tissue, (H and E 40x)

Figure 4.

Skin biopsy showing areas of atrophic adipocytes surrounded by collagen (black arrows), (H and E 100x)

APL is a generic term used for a rare group of disorders with loss of subcutaneous fat. APL is characterized by symmetrical loss of fat involving the face, upper extremities, and trunk, sparing the gluteal and lower limb subcutis. However, our patient did not have facial involvement. The disease is more common in females with the onset of disease before 15 years of age, as in our case. APL is also associated with mesangiocapillary glomerulonephritis, autoimmune disorders like systemic lupus erythematosus, dermatomyositis, localized scleroderma, dermatitis herpetiformis, rheumatoid arthritis, acanthosis nigricans, and vasculitis.[1,2] The exact etiology or pathogenesis of APL is yet to be elucidated. However, C3 hypocomplementemia which initiates adipocyte lysis expressing factor D brought on by C3 nephritic factor, and is linked to the activation of an alternative complement pathway, has been implicated.[3] There is also an association with drusen. There is progressive loss of subcutaneous fat starting from the face, neck, and upper extremities. The abdominal subcutaneous fat and lower limbs are usually spared. In spite of the loss of subcutaneous tissue, there are no metabolic complications, in contrast to generalized acquired lipodystrophy where metabolic complications are encountered. The laboratory investigations may show low C3 levels and low levels of leptin and adiponectin.[3,4] The hypertrophied muscles are considered to be relative due to the loss of the subcutaneous fat which makes the muscles more prominent.[4] Moreover, MRI and EMG show only subtle myopathic changes, as in our case. However, our patient had elevated muscle aldolase enzyme levels, and normal CPK and LDH levels indicating myopathy, as aldolase is a very specific muscle enzyme. There was no history of drug intake or any systemic disease other than APL to account for the myopathy. Muscle involvement in lipodystrophy is a rarity. The exact pathogenesis of myopathy in APL is not known, but it has been postulated that the activation of the alternate complement pathway by C3 nephritic factor may cause subtle muscle damage. This could also explain the association with autoimmune connective tissue disorders.[4] A case of APL in association with dermatomyositis has been reported, but our patient had no clinical features of dermatomyositis.[5] There are no definite treatment modalities for APL. Autologous adipose tissue transplantation, dermal fillers with hyaluronic acid, calcium hydroxyapatite, and silicone have been tried.[4,5] APL is by itself a rare and intriguing disorder, and presenting with myopathy is even rarer. We are therefore reporting this case.

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