desmoplastic fibroma

8/2/2019 Desmoplastic Fibroma

1/7

Fetal andPediatric Pathology, Early Online:17, 2012

Copyright C Informa Healthcare USA, Inc.

ISSN: 1551-3815 print / 1551-3823 online

DOI: 10.3109/15513815.2011.648719

Intraoral Desmoplastic Fibroma: A Manifestation

of Tuberous Sclerosis

Sandeep Tandon1 and Rajeev Kumar Garg2

1GovernmentDentalCollege & Hospital, Departmentof Pediatric Dentistry, Jaipur, India;2Dental Surgery, Jaipur, India

Desmoplastic fibroma (DF) is a benign but locally aggressive tumor usually recognized as an in-traosseous counterpart of soft tissue fibromatosis in both gnathic and extra-gnathic sites. The

most common site is mandible followed by pelvis and long bones. Maxilla has been reported tobe involved very rarely. Desmoplastic fibroma is recently being considered to be one of the oralmanifestations of tuberous sclerosis rather than a coincidental finding. We report an unusual caseof a girl with a previous diagnosis of tuberosclerosis who presented at 8 years with an oral lesiondiagnosed as desmoplastic fibroma.

Keywords angiofibroma, desmoplastic fibroma, maxilla, tuberous sclerosis

INTRODUCTION

uberous sclerosis is a multisystem genetic disorder with variable phenotypic ex-

pression, due to a mutation in one o the two genes, SC1 and SC2. It is trans-mitted through the autosomal dominant gene, with high but not ull penetrability,and has various orms o clinical expression. Tese are genetically determined devel-opment anomalies with varying possibilities o evolution, but able to cause tumorsand/or hamartomas in the nervous system. uberous sclerosis complex (SC) ex-hibits variability in clinical fndings both among and within amilies. Females tendto have milder disease than males. Te classic triad described by Vogt in 1908 com-prises epilepsy, mental defciency, and acial angiofbromas [13]. Marshall in 1959suggested that we should suspect the disease when aced by a patient with epilepticcrises linked to skin disorders or progressive dementia [4].

Te major presenting eatures o S include acial angiofbromas, hypomelanoticmacules,Shagreen patches, cerebral cortical tubers, subependymal nodules, giant cellastrocytomas, cardiac rhabdomyomas, and renal angiomyolipomas.Although the ear-liest and most common maniestations on the skin are hypomelanotic macules or ashlea spots, the most notable fnding is angiofbromas, which occur in 70% o patients.Fibrous prolierations also requently involve the nail beds and orm subungual f-bromas, which have been termed Koenen tumors. Subepidermal fbrosis occasionallyoccurs in the lumbosacral region and gives the overlying skin an orange peel ap-pearance that has been termed shagreen patches. Oral lesions in S are characterizedby enamel pits, gingival angiofbromas, high arched palate, bifd uvulas, clet lip andpalate, fbromas, angiofbromas [5]. Almost all patients with SC have enamel pitting

in the permanent teeth. Gingival fbroma occurs in more than 50% o adults with SC.

Address correspondence to Rajeev Kumar Garg, Dental Surgery, C-97, Shashtri Nagar, Jaipur,302 016 India. E-mail: dr [email protected]

Forpe

rsonaluseonly.


2/7

S. Tandon and R. K. Garg

Odontogenic myxoma [4], calcifed odontogenic tumor [2], desmoplastic fbroma [1],and mucous and/or intraosseous hemangioma have also been linked to S but theyare rarities in the literature.

Desmoplastic fbroma o the bone is a rare, locally aggressive myofbroblastic tu-mor, which is considered the osseous counterpart o the sot tissue fbromatosis [6].Tis tumor constitutes less than 1% o bone tumors and about 0.3% o all benign os-

seous tumors, and it usually involves the mandible, tibia, scapula, and emur [7]. It hasa predilection to aect the posterior part o the mandible, most oten in the ramus-angle region. Te presence o DF along with tuberous sclerosis in the same person isan extremely rare fndingonly 12 cases have been reported to involve maxilla so ar.Moreover, anterior maxilla has been involved by DF only our times in the medicalEnglish literature.

A review o the literature has revealed some previous reports o fbro-osseous le-sions within the jaws o patientswith tuberous sclerosis. Tereore, these intra-osseousfbrous prolierations are thought to represent a maniestation o tuberous sclerosisrather than a coincidental fnding. We here present a rare association o tuberous scle-

rosis with desmoplastic fbroma o anterior maxilla.

CASE REPORT

An 8-year-old Caucasian girl has suered seizures since the age o 3 that has been re-sponsive to antiepileptic monotherapy. Te etiology o the seizure disorder was as-cribed to S based on clinical fndings andconfrmed with neuro-imaging studies. Shehad several cutaneouslesions consistentwith S,including several angiofbromas, hy-popigmented ash lea macular lesions on the ace (Figure 1) and Shagreen patch onher lower back. Te minimal morbidity associated with these cutaneous lesions has

not required specifc pharmacologic therapy. Her epilepsy has been in remission orthe last 2 years on a low dose o carbamazepine. An MRI o the brain done 4 years priorto oral surgery demonstratedonly small subependymal tubersseen commonly in mildS (Figure 2).

Over the last one and hal years, she noticed a painless, frm, and slowly growingmass in the let side o the upper jaw. A clinical examination revealed a frm, non-bleeding, and nontender buccal mass extending rom the let maxillary central in-cisor to deciduous molar region (Figure 3). Overlying mucosa was normal. She had noother intraoral abnormalities except enamel pitting. Orthopantomogram (OPG) andcomputed tomographic (C) images showed a well-defned osteolytic lesion in theanterior maxillary and canine region, displacing the central and lateral incisors ante-riorly and permanent canine superiorly and posteriorly (Figures 4 and 5). Te corticalbone overlying the lesion was expanded with thinning. Root resorption o teeth wasnot seen.

A decision to perorm excisional biopsy o the lesion was made and under gen-eral anesthesia, the lesion was enucleated. Te osteotomy exposed a 6.4 4.2 2.4cm oval cavity with frm-elastic tissue. Te tumor wasnotadherentto bone andwaseasily resected. Grossly, the enucleated mass was covered with an incomplete fbrouscapsule. Te cut surace was solid, glistening, and pinkish- white. Te histopathologicexamination revealed a mesenchymal tumor, composed o spindle-shaped cells withmyofbroblastic dierentiation, abundant collagen ormation. Hyalinized stroma was

present in some areas (Figure 6). Te fbroblasts were small and spindle-shaped, with-outevidence o mitoses or atypia (Figure 7).Based on thecharacteristics, thediagnosiso a desmoplastic fbroma was made, and this diagnosis was confrmed by a reerenceinstitute. Post-operative course has been uneventul so ar.

Fetal and Pediatric Pathology

Forpe

rsonaluseonly.


3/7

Intraoral Desmoplastic Fibroma

FIGURE 1 Multiple small acial angiofbromas and hypomelanotic macules scattered all over theace in a buttery ashion.

DISCUSSION

In 1958, Jae frst distinguished desmoplastic fbroma rom other intraosseous f-brous tumors [8]. It is one o the rarest bone tumors, representing the intraosseouscounterpart o the sot tissue desmoid tumor or fbromatosis. Tese tumors do notmetastasize, but they tend to infltrate diusely and have a high recurrence rate a-ter local resection [9]. In 1965, the frst report about a desmoplastic fbroma o the

jaw was presented by Grith and Irby [10] and since then a considerable numbero similar cases have been published [9]. In the jaw area, non-odontogenetic fbro-matosis was declared as desmoplastic fbroma when distinguished rom odontogenicfbroma.

In the literature, we ound some reports o intraosseous fbrous lesions o thejaws indistinguishable rom desmoplastic fbroma in patients with tuberous sclero-sis. Miyamoto et al. [1] in 1995 reported a case o well-defned radiolucency o theanterior mandible in a Japanese woman with signifcant clinical, radiographic, and


Forpe

rsonaluseonly.


4/7


FIGURE 2 MRI brain showing subependymal nodules.

histopathologic eatures. Te tumor was diagnosed as desmoplastic fbroma.Miyamoto et al. suggested the possibility that the tumor depicted in their report mightrepresent an intraoral maniestation o tuberous sclerosis. Damm et al. [11] in 1999 re-ported our additional cases and made an extensive review o the literature, conclud-ing that these intraosseous fbrous lesions o the jaws or desmoplastic fbroma-liketumors are thought to represent a maniestation o tuberous sclerosis rather than acoincidental fnding. Rushton in 1956 had also reported a case o tuberous sclerosis

with a coincidental fnding o fbrous osteitis and concluded that it appears an in-

escapable conclusion that the jaw lesions are also a maniestation o tuberous sclero-sis [12]. Te radiographic and histopathologic eatures o the lesion depicted in thereport by Rushton were extremely similar to those o the cases documented by Dammet al. in 1999 [11].


Forpe

rsonaluseonly.


5/7


FIGURE 3 Intraoral view showing the bony lesion extending rom let maxillary central incisor tolet deciduous molar lesion. Also note the presence o enamel pits on both the central incisors.

FIGURE 4 OPG showing well-defned osteolytic lesion involving the let anterior maxilla. Also notethe displacement o the incisors and the canine.

FIGURE 5 3D C scan o the ace (a) and axial C scan o maxilla (b) showing the extent o thelesion. Note that the lesion has eroded the cortex and is expanding into the sot tissue.


Forpe

rsonaluseonly.


6/7


FIGURE 6 Low-power photomicrograph showing numerous spindle-shaped fbroblasts inter-spersed within dense fbrous connective tissue in a swirling pattern (H&E, 4).

FIGURE 7 High-power photomicrograph showing uniorm spindle cells with elongated and wavy

nuclei arranged in short ascicles in a collagenous and ocally myxoid stroma. Te appearance issimilar to that o a desmoids tumor o sot tissue (H&E,40).


Forpe

rsonaluseonly.


7/7


CONCLUSION

A patient with documented tuberous sclerosis and fbrous lesion o the jaws is re-ported. A review o the literature revealed comparable pathologies occurring in extra-gnathic bones and yielded several previous reports o similar lesions within the jawso patients with tuberous sclerosis. Tereore, these intraosseous fbrous prolierations

are thought to represent a maniestation o tuberous sclerosis rather than a coinciden-tal fnding. In our case, the lesion demonstrated signifcant collagen ormation withnumerous interspersed fbroblasts. Because the histopathologic eatures bear resem-blance to those o desmoplastic fbroma and simple odontogenic fbroma, these neo-plasms must be considered in the histopathologic dierential diagnosis.

Declaration of Interest

Te authors report no conicts o interest. Te authors alone are responsible or thecontent and writing o this article.

REFERENCES[1] Miyamoto Y, Satomura K, Rikimaru K, Hayashi Y. Desmoplastic fbroma o the mandible associated

with tuberous sclerosis. J Oral Pathol Med24:936, 1995.

[2] Rubin MM, Delgado DB, Cozzi GM, Palladino VS. uberous sclerosis complex and a calciying ep-

ithelial odontogenic tumor o the mandible. Oral Sur Oral Med Oral Pathol 64:20711, 1987.

[3] Harrison MG, ONeil ID, Chadwich BL. Adolescent with tuberous sclerosis. J Oral Pathol Med

26:33941, 1997.

[4] Marshall D, Saul BB, Sachs E. uberous sclerosis: A report o 16 cases in two amily tress bevailiog

genetic dominance. N Engl J Med261:11025, 1959.

[5] Scully C. Oroacial maniestations in tuberous sclerosis. Oral Surg44:70616, 1977.

[6] Vargas-Gonzalez R, San Martin-Brieke W, Gil-Orduna C, Lara-Hernandez F. Desmoplastic fbroma-

like tumor o maxilloacial region associated with tuberous sclerosis. Pathol Oncol Res 10(4):2379,

2004.[7] Lath R, Ranjan A, Ratnam BG, Gowrishankar S. Desmoplastic fbroma o the rontal bone. Neurol

India 54(3):3145, 2006.

[8] Jae HL. Tumors and tumorous conditions of the bones andjoints. Philadelphia, PA: Lea and Febiger,

298303, 1958.

[9] Said-Al-Naie N, Fernandes R, Louis P, Bell W, Siegal GP. Desmoplastic fbroma o the jaw: A case

report and review o literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod101;8294, 2006.

[10] Grith JG, Irby WB: Desmoplastic fbroma. Report o a rare tumor o the oral structures. Oral Surg

Oral Med Oral Pathol20;269275, 1965.

[11] Damm DD, omich CE, White DK, Drummond JF: Intraosseous fbrous lesions o the jaws: a mani-

estation o tuberous sclerosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod87: 334340, 1999.

[12] Rushton MA. Some less common bone lesions aecting the jaws. Oral Surg Oral Med Oral Pathol

9:284304, 1956.


Forpe

rsonaluseonly.

desmoplastic fibroma

Documents