Indian Dermatology Online Journal

: 2018  |  Volume : 9  |  Issue : 1  |  Page : 37--39

Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association

Ankit Mittal1, Keshavamurthy Vinay1, Dipankar De1, Sanjeev Handa1, Anindita Sinha2,  
1 Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Radiodiagnosis, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Correspondence Address:
Dipankar De
Department of Dermatology, Venereology and Leprology. Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh - 160 012


Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling. On evaluation, he was found to have tuberous sclerosis complex with diffuse lipomatosis of the right leg. To the best of the authors' literature search, only two previous reports of association of tuberous sclerosis complex with diffuse lipomatosis were found. The molecular mechanisms behind the co-occurrence of these two entities have not been studied in detail. Abnormalities in lipolysis and lipogenesis pathway may underlie the co-occurrence of tuberous sclerosis complex and diffuse lipomatosis.

How to cite this article:
Mittal A, Vinay K, De D, Handa S, Sinha A. Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association.Indian Dermatol Online J 2018;9:37-39

How to cite this URL:
Mittal A, Vinay K, De D, Handa S, Sinha A. Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association. Indian Dermatol Online J [serial online] 2018 [cited 2020 Sep 27 ];9:37-39
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Lipomatosis is a group of conditions characterized by diffuse infiltration with adipose tissue. Histologically, lipomatosis is composed of normal adult-type adipocytes with no evidence of cellular pleomorphism. There have been only rare case reports of diffuse lipomatosis. Here, we report a case of diffuse lipomatosis with tuberous sclerosis complex.

 Case Report

A 24-year-old male presented with gradually progressive diffuse swelling of the right lower limb since childhood. It was not associated with any paresthesia or sensory/motor function impairment. Apart from limb swelling, there was history of multiple, asymptomatic facial papules since early childhood. His sister also had similar facial lesions and seizure disorder.

On physical examination, there was diffuse swelling of the right lower limb extending from the groin up to the mid leg [Figure 1]. Multiple dilated tortuous veins were seen on the right thigh and leg. No visible capillary or venous malformations could be appreciated. There were multiple firm, discrete, reddish-brown, telangiectatic papules on the face involving the nasolabial furrows and cheeks [Figure 2]a. Multiple ash leaf-shaped hypopigmented patches of variable sizes were seen on trunk [Figure 2]b. Soft, skin-colored papules were coalescing to form plaque on the left lateral trunk [Figure 2]b. On oral mucosal examination, dental pits and gingival fibromas were also seen [Figure 2]a.{Figure 1}{Figure 2}

Fine needle aspiration smears from multiple passes from the right thigh swelling showed lobules of mature adipose tissue. On magnetic resonance imaging (MRI) of the right lower limb, there was altered signal intensity (T1-weighted hyper and T2-weighted hyperintense) involving the musculature of all compartments of the right thigh and leg suggestive of fatty infiltration and multiple prominent, tortuous vessels suggestive of venous channels [Figure 3]. There was associated cortical thickening of right femur and tibia with anterior bowing deformity of femur. On Doppler scan, multiple incompetent perforators along great saphenous vein territory were noted.{Figure 3}


Diffuse lipomatosis is a rare tumorous condition characterized by progressive growth and extension of mature adipose tissue to involve the skeletal muscle of the trunk and extremities. Rarely, osseous involvement may also be a feature.[1] Its etiology is not known although genetic factors have been suggested. It is a benign entity and normally has no clinical significance except for the cosmetic disability. Young children are predominantly affected, however, presentation may become apparent in adulthood. Our case had typical clinical features of diffuse lipomatosis, which was further confirmed by cytology and MRI.

The clinical differentials considered in our patient were Klippel–Trenaunay syndrome, Proteus syndrome, Parkes–Weber syndrome, and macrodystrophica lipomatosa. However, there was no capillary, lymphatic, or arteriovenous malformation to suggest Klippel–Trenaunay syndrome or Parkes–Weber syndrome and epidermal naevi or cerebriform plantar naevi to suggest Proteus syndrome. Macrodystrophica lipomatosis is a close differential of diffuse lipomatosis with a few overlapping clinical and radiological features. However, macrodystrophica lipomatosis typically shows hypertrophy of nerves with proliferation of fat on MRI. Other differences between these two conditions are listed in [Table 1].{Table 1}

Multiple angiofibromas, shagreen patch, and more than three ash leaf macules fulfill the diagnosis of definite tuberous sclerosis complex in our case. To the best of our knowledge, there are only two previous reports of association of tuberous sclerosis complex with diffuse lipomatosis.[2],[3] The case reported by Klein et al.[2] had lower limb involvement, whereas Alcazar et al.[3] reported dorsal transthoracic involvement.

Constitutive activation of mTORC1 (Mammalian Target of Rapamycin Complex 1) is a major pathological consequence of mutations in TSC1 or TSC2 seen in tuberous sclerosis complex. Inhibition of mTOR pathway using rapamycin has been shown to be effective in treating various cutaneous manifestations of tuberous sclerosis complex.[4],[5] It has been shown that mTORC1 suppresses lipolysis, stimulates lipogenesis, and promotes fat storage.[6] In addition, activating mutations in PIK3CA, part of mTOR pathway acting upstream of TSC complex, has been found in facial infiltrating lipomatosis.[7]


In conclusion, the association of diffuse lipomatosis with tuberous sclerosis complex needs further assessment because it is difficult to explain the asymmetrical involvement of lipomatosis when all cells carry TSC mutation. Additional genetic mutations or complex pathways may be involved and requires further characterization.

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 be guaranteed.


We acknowledge the contribution of Dr. Amanur Rahaman in clinical management of the patient.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.


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