Lipodystrophia semicircularis: A lipoatrophy not to get depressed about
By Warren R. Heymann, MD, FAAD
Nov. 2, 2022
Vol. 4, No. 44
A colleague asked me if I could evaluate his 26-year-old daughter while she was briefly on break from her graduate studies in Barcelona. He was concerned that she had developed lipodystrophy. Of course, I agreed, without his knowing that the lipodystrophies reflexively give me dyspepsia. I have always been anxious about them for myriad reasons — they are rare, often have systemic implications, and (for me) are difficult to keep straight.
Lipodystrophies have the common denominator of a loss of adipose tissue; they may be congenital or acquired, localized or generalized, or occur secondary to other disorders (such as lupus panniculitis, morphea, or highly active antiretroviral therapy in HIV patients). Congenital Generalized Lipodystrophy (Berardinelli-Seip syndrome) may manifest as almost complete fat loss. It has autosomal recessive inheritance; mutations in four genes coding for the proteins AGPAT2, seipin, caveolin-1, and cavin-1 have been implicated in the different subtypes of congenital generalized lipodystrophy.
Familial Partial Lipodystrophy is usually an autosomal dominant condition disorder primarily more common on the lower than upper extremities. To date, seven variants of familial partial lipodystrophy have been described, with the best-characterized variant being Familial Partial Lipodystrophy type 2 (Dunnigan’s lipodystrophy) resulting from mutations in the gene encoding lamins A and C.
Acquired Generalized Lipodystrophy is extremely rare and poorly understood, but has been associated with autoimmune connective tissue disease. (1) Acquired Partial Lipodystrophy (Barraquer-Simons syndrome) usually develops in childhood and adolescence, presenting as symmetrical subcutaneous fat loss starting in the face and upper half of the body, progressing downward toward the gluteal line. Sparing of the subcutaneous fat from the lower abdomen and legs is evident, with a general excess of subcutaneous fat in the hips and legs. The syndrome is associated with multiple autoimmune and metabolic disorders, most frequently with hypocomplementemia, diabetes, and hypertriglyceridemia, and less frequently with lupus erythematosus, dermatomyositis, and membranoproliferative glomerulonephritis. Although no firm genetic abnormalities have been identified, polymorphisms of lamin B2 and altered expression of adipogenesis gene markers and mitochondrial genes have been reported in sporadic cases. (2)
My patient’s lesions were present for a few weeks — there was no history of obvious trauma (although as a graduate student she spends considerable time at a desk), lesional discomfort, or systemic symptoms in this healthy woman. I breathed a sigh of relief once I performed my examination, observing symmetrical, horizontal, linear depressions on the anterior thighs, being reasonably confident of the diagnosis of lipoatrophia semicircularis (LS). Following a conversation about the nature of this disorder, we agreed to just follow the lesions, without obtaining imaging (ultrasound, MRI) or a skin biopsy.
LS was first recognized in 1975 by Gschwandtner and Münzberger detailing 11 young women who presented with “dents” of a very similar appearance on the extensor aspect of their thighs, characterized by their band-like circular localization and isolated atrophy of the subcutaneous fatty tissue. The authors considered these findings to be a distinct disease, which they termed lipoatrophia semicircularis. (3)
In their PubMed review of 125 cases of LS, Presta et al noted that > 90% were reported in middle-aged women. (4) Pérez et al reported that over 21 months, 1137 cases of LS were registered in distinct workplaces in Barcelona. (5) (I assume that my patient studying in Barcelona is completely coincidental.) Most authorities attribute the disease to repetitive microtrauma to the clinically involved sites. Such microinjury may be due to pushing the thighs against the edge of a table, leaning against a sink, and wearing tight jeans, or other reasons. (6) Other theorized factors include diminished blood flow of the lateral femoral circumflex artery, which originates on the posterior thigh but is responsible for the blood supply of adipose tissue of the anterior thigh (7); indoor climatic conditions (temperature, humidity, pollution); local thermal energy loss; and electrostimulation. (8) The female predominance of LS is presumably due to differences in the effect of mechanical pressure based on the anatomy of adipose tissue, compared to men. (9) Ultrasonography, as in the case of a 30-year-old pregnant woman with LS, may demonstrate focally increased subcutaneous echogenicity, indicating compression of adipose tissue. (10) Histopathological studies have been nonspecific [or unremarkable], with variable vascular inflammation accompanied by a partial or complete loss of fat, replaced by newly formed collagen. (9)
LS develops quickly in most cases and usually resolves within 9 months to 4 years if the inciting trauma is identified and avoided. (11) When environmental workplace adjustments were made for 417 patients in the study by Pérez et al, 90% of cases were resolved within 6 months. (5)
In conclusion, LS is likely a common disorder that is either unrecognized or underreported. Interestingly, when I was discussing the condition with my patient, I had my hand in my scrubs’ pocket and felt a linear depression on my anterior left thigh — corresponding to where I lean against my chair when signing out dermatopathology cases. Reassurance, without invasive or expensive diagnostic studies, while eliminating any potential causative microtrauma, may be all that is necessary for patients with LS.
Point to Remember: Lipoatrophia semicircularis is a benign lipodystrophy that may resolve within months if causative microtrauma to the site can be identified and avoided.
Our expert’s viewpoint
Lisa Pappas-Taffer, MD, FAAD
Associate Professor of Clinical Dermatology
University of Pennsylvania Perelman School of Medicine
Lipodystrophies are challenging disorders. Dr. Heymann’s commentary on lipodystrophia semicircularis demonstrates that some cases may not have any systemic implications. My viewpoint will address lipodystrophy/lipoatrophy in the context of associated connective tissue disease (CTD).
The most common cause of lipodystrophy/lipoatrophy in patients with CTD is resolved panniculitis — most commonly deep morphea and lupus panniculitis. However, there are also reports in the literature of acquired generalized and partial lipodystrophy (LD), in the absence of preceding inflammation, occurring in patients with lupus, dermatomyositis, and other autoimmune diseases. The strongest association between LD and CTD is in juvenile dermatomyositis (JDM), with a prevalence of 10-40%. (12) LD can occur in adult patients with CTD, but it is rare.
Regarding pathogenesis, reports from the 1990s hypothesized that both inherited and acquired complement deficiency could increase the risk for viral and chronic immunocomplex production, leading to the development of both mesangiocapillary glomerulonephritis type 2 (MCGN) and autoimmune disease. (13) However, most patients with autoimmune-associated LD do not have reduced complement levels, C3 nephritic factor, or risk for development of mesangiocapillary glomerulonephritis type 2 (MCGN). Instead, they tend to be associated with metabolic abnormalities, particularly insulin resistance and hypertriglyceridemia.
In 2001, Huemer et al reported a series of 20 patients with JDM. Four of 20 patients with LD had concomitant insulin resistance and hypertriglyceridemia. (14) In 2006, Singh and Bursal also showed a high frequency of LD in JDM (10/33 JDM patients had LD), but they did not evaluate metabolic status. (15) In 2008, Bingham et al reported predictors of acquired LD in 28 JDM and one adult-DM patients. (12) They found that the onset is typically delayed a median of 4.6 years after diagnosis; is clinically associated with calcinosis, muscle atrophy, joint contractures, and facial rash; and is often associated with insulin resistance and hyperglycemia. They found that cytokine polymorphisms, C3 nephritic factor, insulin receptor antibodies, and laminin mutations did not appear to play a pathogenic role in the development of LD.
In summary, patients with CTD (most commonly JDM) can rarely develop an associated LD. Should patients with an acquired LD be screened for autoimmune disease? I would argue no, as studies show the onset is typically delayed years after the initial CTD diagnosis. However, in dermatomyositis, this highlights another reason to check for metabolic abnormalities (in addition to the associated increased risk for cardiovascular events in DM) as a predictor for developing LD.
Quinn K, Chauhan S, Purcell SM. Lipodystrophies. 2021 Sep 28. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–. PMID: 29083781.
Small JE, Jassam YN, Small KM, Chea P, Popov V, Li S, Srinivasan J. Barraquer-Simons Syndrome. Am J Med Sci. 2016 Sep;352(3):280-4. doi: 10.1016/j.amjms.2016.05.007. Epub 2016 May 24. PMID: 27650233.
Gschwandtner WR, Münzberger H. Lipoatrophia semicircularis [Lipoatrophia semicircularis (author's transl)]. Wien Klin Wochenschr. 1975 Mar 7;87(5):164-8. German. PMID: 1119162.
Presta F, Del Giglio M, Girolomoni G. Lipoatrophia semicircularis: a case report and review of the literature. G Ital Dermatol Venereol. 2016 Aug;151(4):441-4. PMID: 27348322.
Pérez A, Nebot M, Maciá M, Panadés R; Collaborative Group for Evaluation of LS Outbreak Control Measures. An outbreak of 400 cases of lipoatrophia semicircularis in Barcelona: effectiveness of control measures. J Occup Environ Med. 2010 Jul;52(7):751-7. doi: 10.1097/JOM.0b013e3181e80747. PMID: 20595911.
Mascaró JM, Ferrando J. Lipoatrophia semicircularis: the perils of wearing jeans? Int J Dermatol. 1982 Apr;21(3):138-9. doi: 10.1111/j.1365-4362.1982.tb02058.x. PMID: 7085167.
Hermans V, Hautekiet M, Haex B, Spaepen AJ, Van der Perre G. Lipoatrophia semicircularis and the relation with office work. Appl Ergon. 1999 Aug;30(4):319-24. doi: 10.1016/s0003-6870(98)00037-4. PMID: 10416844.
Bertolani M, Mele S, Manuguerra R, Dominici MM, Lotti T, Feliciani C, Satolli F. Comment on "Lipoatrophia semicircularis - a distinct entity?". Int J Dermatol. 2021 Oct;60(10):e421-e422. doi: 10.1111/ijd.15600. Epub 2021 Apr 20. PMID: 33880757.
Herane MI, Urbina F, Sudy E. Lipoatrophia semicircularis: a compressive lipoatrophy consecutive to persistent mechanical pressure. J Dermatol. 2007 Jun;34(6):390-3. doi: 10.1111/j.1346-8138.2007.00295.x. PMID: 17535406.
Sigl J, Lázár M, Tittes J, Wendt J, Kancz S, Kiefer FW, Valencak J, Okamoto I, Lichtenberger BM, Handisurya A. Lipoatrophia semicircularis - a distinct entity? Int J Dermatol. 2020 Nov;59(11):e385-e387. doi: 10.1111/ijd.15138. Epub 2020 Aug 17. PMID: 32808284.
Nagore E, Sánchez-Motilla JM, Rodríguez-Serna M, Vilata JJ, Aliaga A. Lipoatrophia semicircularis--a traumatic panniculitis: report of seven cases and review of the literature. J Am Acad Dermatol. 1998 Nov;39(5 Pt 2):879-81. doi: 10.1016/s0190-9622(98)70371-8. PMID: 9810921.
Bingham A et al. Predictors of Acquired Lipodystrophy in Juvenile-Onset Dermatomyositis and a Gradient of Severity. Medicine. 2008; 87:70-86
Biasi D et al. A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. Rheumatol Int. 1999.
Huemer C, Kitson H, et al. Lipodystrophy in patients with juvenile dermatomyositis – evaluation of clinical and metabolic abnormalities. J Rheumatology. 2001;. 28(3):610-5.
Singh S, Bansal A. Twelve years experience of juvenile dermatomyositis in North India. Rheumatol Int. 2006;26(6), 510-515.
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