PAUL A. LEVINE, MD Case Report Editor

Oropharyngeal desmoid fibromatosis, congenital glaucoma and cataracts, and a calvarial defect: A new syndrome GARY L. CLAYMAN, MD, DDS, GEORGE L. ADAMS, MD, FACS, EDWARD H. SZACHOWICZ II, MD, PhD, LOUIS P. DEHNER, MD. and ROBERT J. GORLIN, DDS, Minneapolis, Minnesota, and St. Louis, Missouri

Fibromatosis is a generic designation for a category of nonmetastasizing ,predominantly soft tissue neoplasms, the cellular composition of which is exclusively fibroblastic andl or myofibroblastic in nature. A distinction has been made by some between the juvenile and adult forms of fibromatosis in terms of specific pathologic subtypes and anticipated clinical behavior. Among the soft tissue neoplasms of childhood, the various subtypes of juvenile fibromatosis account for 10% to 12% of all cases and are exceeded in frequency by the vascular, neurogenic, and striated muscle tumors in most pediatric series.' The head and neck region, including the oral and nasal cavities, nasopharynx, paranasal sinuses, and soft tissues of the neck, is the site for 15% to 25% of juvenile fibrornatoses.2 We present the unusual case of a child with an oropharyngeal desmoid or aggressive fibromatosis with various congenital anomalies, including congenital glaucoma and cataracts and a calvarial osseous defect in the region of the anterior fontanelle; this combination of findings has not been previously described. The management of this patient and the various therapeutic problems in the control of local disease are also discussed.

From the Department of Otolaryngology (Drs. Clayman, Adams, Szachowicz, and Gorlin), University of Minnesota Hospital and Clinic, and the Department of Anatomic Pathology (Dr. Dehner), Washington University School of Medicine. Received for publication Jan. 24, 1991; revision received Jan. 3 , 1992; accepted Jan. 10, 1992. Reprint requests: George L. Adams, MD, Department of Otolaryngology. Box 396, University of Minnesota Hospital and Clinic, Harvard Street at East River Rd., Minneapolis, MN 55455.

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CASE REPORT

A six-year-old hirsute boy of normal intelligence was referred with an asymptomatic, rapidly enlarging mass involving his right anterior tonsillar pillar, right floor of mouth, and base of tongue, which was originally noted on a routine examination (Fig. I). The medical history was pertinent for multiple ophthalmologic procedures for bilateral congenital glaucoma and cataracts and a previous excision of a right anterior tonsillar pillar mass in November 1985 that had been diagnosed as fibromatosis. The family history revealed a sister with syringomyelia and a maternal first cousin with TreacherCollins syndrome. One year later, a resection of a recurrent mass from the same area, a portion of the soft palate and uvula, and a portion of the base of the tongue was performed. Examination of the head and neck showed a 4-cm soft bulging pulsatile skull defect in the area of the anterior fontanelle. The right eye was cataractous, and the left eye revealed a clear cornea with a large pupil, a thin rim of iris, and an absent lens. Intraorally, a smooth mass of the right anterior tonsillar pillar extended posteriorly toward the posterior tonsillar pillar and superior and medially along the soft palate to the uvula; inferiorly, the base of the tongue was not palpably involved. Flexible fiberoptic examination revealed a widely patent nasopharynx with no discernible masses. The inferior extent of the lesion followed the lateral pharyngeal wall to the superior piriform sinus and vallecula. The larynx appeared uninvolved with normal vocal cord mobility. There was no evidence of a compromised airway. Examination of the neck was unremarkable. Magnetic resonance imaging disclosed displacement of the right supraglottic structures medially and partially, narrowing the lumen of the lower hypopharynx and superior larynx. There was radiographic evidence of extension into the right paraglottic space (Fig. 2). Chromosomal analysis showed no evidence of translocations, fragility, or defects. An enbloc resection of the mass was performed through a lip split approach with dissection of the submandibular space

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lobulated white to grey-tan fibrous mass that on cut section had a whorled appearance. In the initial resection, the mass measured 3 cm in diameter, but in the recurrences the largest lesion was 4.2 cm in greatest dimension. The original margins were well demarcated from the surrounding tissues; however, in the subsequent specimens, it was difficult to ascertain the peripheral borders from the adjacent anatomic structures, which included portions of tongue and nonlingual skeletal muscle. Histologically, the bland fibrous proliferation with a nodular and diffuse pattern of growth remained static in its degree of cellularity and absence of mitotic activity in the various resections (Fig. 4, A ) . Fascicles of intersecting bundles of spindle cells in a pale collagenous stroma were consistent features in the primary resection and the subsequent reexcision (Fig. 4, B). The recurrent lesions showed benign-appearing fibroblasts with features that were essentially unchanged from the primary tumor (Fig. 5 , A ) . Infiltration into the adjacent soft tissues resulted in the replacement or entrapment of normal structures, such as skeletal muscle, in a manner characteristic of desmoid fibromatosis (Fig. 5 , B ) . Fig. 1. A family photograph depicts the patient's general appearance at 18 months of age. No other photographic documentation of his general preoperative appearance exists. to secure the inferior extent of the lesion. The resection in-

cluded the right lateral wall of the oropharynx and hypopharynx; extended medially and inferiorly to include the vallecula and base of tongue; and superomedially excised a portion of the soft palate to the uvula. Reconstruction of the soft palate was performed with a rotational tongue flap, with the remainder of the floor of mouth resection closed primarily. All surgical margins were tumor-free, but the excision line at the lateral pharyngeal wall was very close. Nine months after surgery, a recurrence was discovered at the base of the tongue and lateral margins of the oropharynx, with marked induration at all incision sites (Fig. 3). Serologic analysis of the pituitary and adrenal hormonal axis, at this time, showed no abnormalities. A second reexcision was performed principally to remove all visible and palpable disease. Microscopic tumor remained at all surgical margins. Coinbination chemotherapy of vincristine, actinomycin D, and cyclophasphamide (VAC) in conjunction with 5500 rad radiation therapy was given. One and a half years after this therapy, the patient has recurrence within the palate and nasopharynx. The tumor has presently been stabilized by use of alpha interferon. No disease progression has been noted for 1 year. PATHOLOGY

The surgical specimens from the two procedures were similar in their microscopic characteristics, with a firm,

DISCUSSION

Juvenile fibromatosis generally has not included the particular tumor that is the subject of this report-a desmoid or aggressive fibromatosis. Infantile myofibromatosis, digital fibromatosis, fibrous hamartoma of infancy, and fibromatosis colli are the typical fibrous tumors of childhood, whereas desmoid or musculoaponeurotic fibromatosis has a peak incidence in the third and fourth decades of life, and together the head and neck region is involved in 10% or less of cases.3 It is not unprecedented for a classic desmoid tumor to occur in the pediatric age population.' One of the characteristic pathologic features of the desmoid fibromatosis is its infiltrative growth by histologic fibrocellular units arising from musculoaponeurotic structures that invade contiguous structures. Infiltration and replacement of tonsillar lymphoid tissue, parapharyngeal skeletal muscle, and tongue as manifestations of this behavior were noted in the surgical resections from our patient. The most common type of fibromatosis to affect the head and neck region of children is fibromatosis colli of the sternocleidomastoid muscle in neonates. 1.2 This lesion usually undergoes spontaneous regression over a period of several months. The anterolateral neck and supraclavicular regions are the sites of predilection for desmoid fibromatosis in this particular anatomic area. Among 40 patients with fibromatosis of the head and neck, Conley et al.4 reported that 25% were younger

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Fig. 2. Noncontrast nuclear magnetic resonant scan; arrow depicts hypodense inferior extent of tumor within the right supraglottic larynx and paraglottic space.

than 15 years of age at diagnosis. The lesion typically presents as a painless mass that may ulcerate skin or niucosa. Growth rates are extremely variable, with dormancy lasting up to several years. The mainstay of treatment for patients with fibromatosis continues to be complete surgical excision with wide margins. This, however, is often difficult in the head and neck patient without producing serious cosmetic deformities or sacrificing vital structures. Recurrence rates range from 32% to 70%, can be correlated with positive margins, and tend to appear within the first two postoperative years and invariably within 4 years after surgery. Recurrences are not, however, related to the degree of cellularity or the number of mitoses. Reported deaths resulted from uncontrolled local disease, usually associated with compromise of the supraglottic a i r ~ a y . ~ Treatment is less successful in patients whose disease has recurred after surgical removal or in those patients from whom the tumor cannot be removed primarily. Because of this, the role of adjunctive therapy is useful for recurrent or surgically unmanageable cases. Wara et al.' reported local control in 13 of 16 patients treated

Fig. 3. lntraoral examination before resection of recurrence. The gingival abnormalities seen were a result of extreme neglect of oral hygiene and were not originally present on initial evaluation.

with 4500 to 6100 rad with followup of 2 to 6 years. Others have also reported relatively high dosing requirements of 5000 to 6000 rdd for the local control of this lesion.'-'(' Dosing in this range, however, predictably produces severed disturbances in the growth and

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Fig. 4. A, Oropharyngeal fibromatosis. Arrow depicts a fibrous nodule adjacent to a lymphoid aggregate in the tonsillar region from the initial resection. B, Interlacing bundles and bands of fibroblasts are separated by collagen (Hematoxylin-eosin stain; original magnification x 100 for A, x 200 for B.)

development of the craniofacial skeleton. In addition, further late sequela make the use of adjunctive radiotherapy potentially less appealing." Chemotherapeutic combinations of vincristine, actinomycin, and cyclophosphamide (VAC), and/or DTIC (5-3, 3 Dimethyl-1 h a z o n e ) imidozole-4 carboximide have also been used over a 6-month course with at least a 75% reduction in preoperative tumor size.".'z Further work with VAC therapy was performed at Children's Hospital of Philadelphia. They reported complete response in two patients with fibromatosis of

the neck treated with VAC in combination with 5500 rad of therapy and a partial response in one patient with a neck fibromatosis treated with VAC therapy alone. Nausea and vomiting were common, as expected, but serious weight loss did not occur. Of six total desmoid patients treated, severe transient neutropenia (less than 500 neutrophils/ml) developed in two and moderate neutropenia (between 500 to 1000 neutrophils/ml) developed in another two, however no serious opportunistic infections delayed.I3 Although alpha interferon was used empirically to

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Fig. 5. A, Recurrent oropharyngeal fibrornatosis,shows benign-appearingfibroblasts whose features are essentially unchanged from the primary tumor. B, The infiltrating border demonstrates isolated fibers of skeletal muscle (arrows] that are surrounded by the fibrous proliferation (Hernatoxylin-eosin stain; original magnification x 200 for A, x 300 for 6.).

halt recurrent disease progression, desmoid fibromatosis growth characteristics may be unpredictable. Additionally, biologic modifiers have not been used in prospective clinical trials in the treatment of desmoid fibromatosis. Therefore, the use of biologic response modifiers in the treatment of recurrent desmoid fibromatosis has not been established. Several syndromes associated with gingival fibromatosis have been described previously; however, no such similar associations have been ascribed to aggressive fibromatosis. Rutherford originally described

gingival fibromatosis and corneal dystrophy. These individuals had relatively mild gingival enlargement, failure of tooth eruption, and corneal opacities. The association of mental retardation and aggressive behavior was noted, but whether these abnormalities were a manifestation of the syndrome was unclear.'' No previously described anomalies have been found in association with infantile aggressive fibromatosis. This case reports a 6-year-old boy of normal intelligence with infantile oropharyngeal desmoid aggressive fibrornatosis, a calvarial defect in the area of the anterior

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fontanelle, and congenital glaucoma and cataracts. No apparent anatomic, embryologic, or physiologic explanation for this constellation of defects could be found. REFERENCES

1. Coffin CM, Dehner LP. Fibroblastic-myofibroblastic tumors in children and adolescents. A clinicopathologic study of 108 examples in 103 patients. Pediatr Pathol 1991;11:569-88. 2. Coffin CM, Dehner LP. Soft tissue neoplasms in childhood: a clinicopathologic overview. In: Finegold M, ed. Pathology of neoplasia in children and adolescents. Philadelphia: WB Saunders Company, 1986: 223-55. 3. Enzinger FM, Weiss SW. Soft tissue tumors. St. Louis: CV Mosby Company, 1988:102-200. 4. Conley J, Healey WV, Stout AP. Fibromatosis of the head and neck. Am J Surg 1966;112:609-14. 5. DasGupta TK, Brasfield RD, O’Hara J. Extraabdominal desmoids: a clinicopathologic study. Ann Surg 1969;170:109-2 I . 6. Wara WH, Phillips TL, Hill DR, et al. Desmoid tumors-treatment and prognosis. Radiology 1977; 124:225-6. 7. Greenberg HM, Goebel R, Weichselbaurn RR, et al. Radiation therapy in the treatment of aggressive fibromatosis. Int J Radiat Oncol Biol Phys 1981;7:305-10.

8. Kiel KD, Suit HD. Radiation therapy in the treatment of aggressive fibromatoses (desmoid tumors). Cancer 1984;54: 205 1-5. 9. Atahan IL, Akyol F, Zorlu F, Gurkaynak M. Radiotherapy in the management of aggressive fibromatosis. Br J Radio1 1989;62:854-6. 10. Liebel SA, Wara WM, Hill DR, et al. Desmoid tumors: local control and patterns of relapse following radiation therapy. Int J Radiat Oncol Biol Phys 1983;9: 1167-71. 11. Goepfert H, Congir A, Ayala AG, McCarthy E. Preoperative chemotherapy and surgical resection for aggressive fibromatosis of the head and neck: a case report. OTOLARYNGOL HEADNECK SURG1978;85:656-8. 12. D’Angio GJ, Clatworthy HW, Evans AE, et al. Is the risk of morbidity and rare mortality worth the cure? Cancer 1978;41:377-80. 13. Raney B, Evans A, Granowetter L, Schnaufer L, et al. Nonsurgical management of children with recurrent or unresectable fibromatosis. Pediatrics 1987;79:394-8. 14. Gorlin RJ, Cohen MM Jr. Levin LS. Syndromes of the head and neck. 3rd ed. New York Oxford University Press, 1990;84753.

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News and Announcements

held July 26-30, 1993, at the Tamarron Resort in Durango, Colorado. This 28 hour review and update will encompass all the clinically important areas of MR imaging. Important new concepts and pathological/imaging correlations in the body, musculoskeletal system, ENT, head and neck, brain, and spine will be explored. Daily case presentations will supplement these lectures and will serve to test the registrants' diagnostic abilities in MR imaging. This complete review of MR imaging will be presented by nationally recognized leaders in magnetic resonance imaging. As a result of this comprehensive review, registrants will become familiar with current applications of MR imaging and will be able to integrate many of these applications directly into their practice. Program chairmen for this presentation will be Robert Quencer, MD (University of Miami), Victor Haughton, MD (Medical College of Wisconsin). Twenty-eight credits of Category I will be available. For further information, please contact Marti Carter, CME, Inc., 11011 West Nort Ave., Milwaukee, Wisconsin 53226, or call (414) 771-9520. Ear, Nose, and Throat Diseases: 1993 Update

Children's Hospital of Pittsburgh will hold its 18th Annual Symposium, "Ear, Nose, and Throat Diseases in Children: A 1993 Update." This symposium will be held July 30-31, 1993. CME credits will be awarded.

For further information, please contact the Department of Pediatric Otolaryngology, Children's Hospital of Pittsburgh, 3705 Fifth Avenue at DeSoto St., Pittsburgh, Pennsylvania 15213, or call (412) 692-8577. Twenty-fifth Annual Meeting - Head and Neck Oncologists

The Association of Head and Neck Oncologists of Great Britain will sponsor the Twenty-fifth Annual Meeting of Head and Neck Oncology, to be held in Edinburgh, Scotland, United Kingdom, on August 23-26, 1993. International and local faculty will present extensive social and family programs. For further information, please contact Mr. P. J. Bradley, Honorary Secretary, Department of Otorhinolaryngology-Head and Neck Surgery, University Hospital, Queens Medical Centre, Nottingham, NG7 2UH, England, or phone 0602421421. Sixth International Congress on Interventlonal Ultrasound

The Sixth International Congress on Interventional Ultrasound will be held in Copenhagen, Denmark, on September 7-10, 1993. For further information, please contact Christian Nolsoe, Congress Secretary, Department of Ultrasound, Herlev Hospital, University of Copenhagen, DK-2730 HerlevDenmark, or call + 45/ 44 53 53 00 ext. 3240.

CORRECTION

The Supplement to the December 1992 issue of the JOURNAL (Volume 107, Number 6, Part 2), incorrectly listed Dr. Bruce R. Gordon as Chief of Otolaryngology at the Massachusetts Eye and Ear Institute. Dr. Joseph Nadol is Chief of Otolaryngology at the Massachusetts Eye and Ear Infirmary. Dr. Gordon is Chief of Otolaryngology at Cape Cod Hospital.

Oropharyngeal desmoid fibromatosis, congenital glaucoma and cataracts, and a calvarial defect: a new syndrome.

PAUL A. LEVINE, MD Case Report Editor Oropharyngeal desmoid fibromatosis, congenital glaucoma and cataracts, and a calvarial defect: A new syndrome G...
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