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Year : 2012  |  Volume : 55  |  Issue : 2  |  Page : 242-244
Lipofibromatosis accompanied by several congenital anomalies, report of a rare case

1 Department of Plastic and Reconstructive Surgery, Shiraz University of Medical Sciences, Shiraz, Iran
2 Department of Pathology and Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

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Date of Web Publication3-Jul-2012


Lipofibromatosis is a rare tumor of infancy, which has been reported about 10 years ago, and since then very few reports have been published. This tumor has been reported in association with congenital anomalies such as macrosyndactyly, but there is no report of multiple congenital anomalies with lipofibromatosis in the English literature as far as our knowledge goes. Herein, we report a case of this tumor associated with syndactyly, bilateral complete cleft lip and palate, trigonocephaly, and atrial septal defect.

Keywords: Cleft lip, congenital anomaly, lipofibromatosis

How to cite this article:
Marzban S, Geramizadeh B. Lipofibromatosis accompanied by several congenital anomalies, report of a rare case. Indian J Pathol Microbiol 2012;55:242-4

How to cite this URL:
Marzban S, Geramizadeh B. Lipofibromatosis accompanied by several congenital anomalies, report of a rare case. Indian J Pathol Microbiol [serial online] 2012 [cited 2023 Jan 28];55:242-4. Available from:

   Introduction Top

Lipofibromatosis is a very rare pediatric neoplasm that has a distinctive fibro-fatty pattern of growth. It has been first described by Fetsch in 2001, [1] since then only a few additional cases have been reported. [2]

Herein, we report our experience with a 3-month-old boy who presented with lipofibromatosis of his left foot accompanied with multiple other congenital anomalies, i.e., syndactyly, bilateral complete cleft lip and palate, trigonocephaly, as well as atrial septal defect (ASD).

   Case Report Top

A 3-month-old boy presented with a mass in his left forefoot [Figure 1]a. He has had this mass since birth with about 10% enlargement during 3 months. The mass was nonmobile and firm. The overlying skin was unremarkable. Aside from the mass the patient had other congenital anomalies composed of bilateral complete cleft lip and palate [Figure 1]b, right-hand syndactyly, trigonocephaly [Figure 1]c, as well as ASD.
Figure 1: (a) Left forefoot mass. (b) The patient's face with cleft lip (bilateral). (c) CT scan shows

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There is history of full-term vaginal delivery. There is no history of any consanguinity. His mother did not have any history of valporic acid therapy.

The Karyotype of the patient and his parents were normal.

Imaging studies showed a mass with poorly defined margins measuring 5 × 4 × 2 cm with no connection to bone.

At surgery, the mass was found to be attached to forefoot soft tissues. The excised mass was gray and soft, measuring 5 × 4 × 2 cm. Microscopic examination showed mixed population composed of lobules of mature adipocytes (70%) traversed by bundles of fibroblasts (30%) [Figure 2]a and b.
Figure 2: Histopathologic section shows admixture of lobules of fat separated by fibrous bundles. (a) (hematoxylin and eosin, ×250), (b) (hematoxylin and eosin, ×400)

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The diagnosis of lipofibromatosis was made with involved margins. Immunohistochemistry was negative for cytokeratin, desmin, SMA, and HMB45, but positive for S100 (adipocytes), CD34 (fibroblasts), CD99, and vimentin. MIB-1 index was less than 1%.

Repair of the cleft lip were performed. The patient did well after surgery. His craniosynostosis was also repaired successfully. Now he is well and completely free of tumor after 6 months of follow-up. He will be operated for cleft palate and syndactyly in the near future.

   Discussion Top

The first report of lipofibromatosis of foot has been in 1991, [3] but the full clinicopathologic description of this tumor accompanied by its differential diagnosis was in 2000 by Fetsch et al. [1] This tumor is a rare pediatric neoplasm which presents with a benign slow growing mass with congenital onset and predilection for the hands and feet. [2] The age of presentation has been 1 day to 12 years with a male predominance (2:1). [1],[2],[4] Imaging studies can be helpful for the preliminary diagnosis. In ultrasonography the picture is fairly nonspecific, i.e., hyperechoic appearance of a fat-containing benign-looking mass, but magnetic resonance imaging ( MRI )is more characteristic. [2] Hypersignal on both T1-weighted and T2-weighted images leads to diagnosis of lipomatous tumor. [5]

The final diagnosis of lipofibromatosis has always been made after pathologic examination in the previous reports, which consisted of lobules of adipocytes traversed by bundles of fibroblasts. [6]

Histopathologic differential diagnoses consist of infantile tumors with mixed population of spindle cells and adipose tissue, i.e., fibrous hamartoma of infancy, lipoblastoma, and fibromatosis. [7] Immunohistochemistry plays no major role for differential diagnosis. [1] Fibrous hamartoma of infancy contains primitive organoid nests of mesenchymal cells in myxoid or peculiar neurofibroma like fibrosis which has not been reported in lipofibromatosis. [1] Lipoblastoma shows myxoid changes with immature fat lobules and typical chicken wire type capillaries. [1],[7]

Our case was 3-month-old baby with a mass on his forefoot and several variable congenital anomalies. Lipofibromatosis has been reported with macrosyndactyly, but to the best of our knowledge there has been no report of this tumor in the English literature accompanied with several congenital anomalies. [8]

There are many syndromes associated with trigonocephaly such as atelencephaly, chromosomal anomalies like 7p deletion, 9p monosomy, 11q monosomy, C syndrome, BOPS or C-like syndrome, Fronto-ocular syndrome, Frydman trigonocephaly, Goldblatt syndrome, Holoprosencephaly, Lin-Gettig syndrome,  Say-Meyer syndrome More Details, and Valproic acid embryopathy. [9] C syndrome, BOPS, atelencephaly, and valproic acid embryopathy have both cardiac abnormalities and cleft/lip palate.

There has been no history of valporic acid ingestion by the patient's mother, so valporic acid embropathy is excluded.

C syndrome which is also known as Opitz trigonocephaly syndrome is characterized by trigonocephaly, mental retardation, hypotonia, cardiac defects, redundant skin, and dysmorphic facial features. [10] Bohring et al. in 1999 reported four unrelated cases of a syndrome very similar to Opitz trigonocephaly (C syndrome) which differed on the basis of intrauterine growth retardation, cleft lip/palate, exophthalmus, retinal involvement, flexion deformities of upper limbs, dislocation of redial heads, and forehead hirsutism. [11] This syndrome is called Bohring-Opitz or C-like syndrome. [10],[11]

Our patient's anomalies were very similar to Bohring-Opitz syndrome in respect of trigonocephaly, and facial as well as cardiac abnormalities; however, our patient did not have upper limb abnormalities and exophthalmus which is characteristic of Bohring-Opitz syndrome. [12],[13]

This case might be a new syndrome or a variant of Opitz syndrome with facial abnormalities, cleft lip/palate, cardiac deformities, and lower limb lipofibromatosis.

   References Top

1.Fetsch JF, Miettinen M, Laskin WB, Michal M, Enzinger FM. A cilinicopathologic study of 45 pediatric soft tissue tumors with an admixture of adipose tissue ad fibroblastic elements, and a proposal for classification as lipofibromatosis. Am J Surg Pathol 2000;24:1491-500.  Back to cited text no. 1
2.Walton JR, Green BA, Donaldson MM, Mazuru DG. Imaging characteristics of lipofibromatosis presenting as a shoulder mass in a 16-month-old girl. Pediatr Radiol 2010;40(Suppl:1):S43-6.  Back to cited text no. 2
3.Grogan DP, Bernstein RM, Habal MB, Ogden JA. Congenital lipofibromatosis associated with macrodactyly of the foot. Foot Ankle 1991;12:40-6.  Back to cited text no. 3
4.Teo HE, Peh WC, Chan MY, Walford N. Infantle lipofibromatosis of upper limb. Skeletal Radiol 2005;34:799-802.  Back to cited text no. 4
5.Deepti AN, Madhuri V, Walter NM, Cherian RA. Lipofibromatosis: Report of rare paediatric soft tissue tumor. Skeletal Radiol 2008;37:555-8.  Back to cited text no. 5
6.Kabasawa Y, Katsube K, Harada H, Naguma K, Terasaki H, Perbal B, et al. A male infant case of lipofibromatosis in the submental region exhibited the expression of connective tissue growth factor. Surg Oral Med Oral Pathol Radiol Endod 2007;103:677-82.  Back to cited text no. 6
7.Kenney B, Richkind K, Friedlaender G, Zambrano E. Chromosomal rearrangement in lipofibromatosis. Cancer Genet Cytogenet 2007;179:136-9.  Back to cited text no. 7
8.Nagarajan G, Deshpande A, Supe A. Progressive macrosyndactyly due to nerve territory-oriented lipofibromatosis: A case report. Surgery 2002;131:468-9.  Back to cited text no. 8
9.Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, et al. Clinical and genetic aspects of trigonocephaly, a study of 25 cases. Am J Med Gen 2003;117A:127-35.  Back to cited text no. 9
10.Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, et al. Mutations in CD96, a member of immunoglobin superfamily, causes a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet 2007;81:835-41.  Back to cited text no. 10
11.Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, et al. Severe end of Opitz trigonocephaly (C) syndrome or a new syndrome? Am J Med Genet 1999;85:438-46.  Back to cited text no. 11
12.Opitz JM, Johnson RC, McCreadie SR, Smith DW. The C syndrome of multiple congenital anomalies. Birth Defects Orig 1969;2:161-6.  Back to cited text no. 12
13.Bohring A, Gretel G, Oudesluijs GG, Grange DK, Zapino G, Thierry P. New cases of Bohring -Opitz syndrome, update, and critical review of the literature. Am J Med Genet 2006;140A:1257-63.  Back to cited text no. 13

Correspondence Address:
Bita Geramizadeh
Pathology Department, Shiraz University of Medical Sciences, Shiraz, 71345-1864
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.97894

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