Congenital fibromatosis: Localized and generalized forms

Congenital Fibromatosis: Localized and Generalized Forms By J. Pleschkes

UMEROUS BENIGN AND MALIGNANT fibrous tumors in infants and children have been reported in the past, 1-a but until recently it has been N difficult to compare the various forms because of inadequate classification. It was found that the histologic criteria of these tumors, especially in newborns and infants, were unreliable in defining their behavior.* Many tumors appearing histologically malignant did not behave so clinically; some even regressed spontaneously.**ePrecytostatic-era cures for “fibrosarcoma” after surgery or radiation’ were not uncommon. Since the introduction in 1954 by Stout* of the concept of juvenilaflbromatoses and a more clinically correlated classification, further reports emphasizing the essentially benign nature of these tumors appeared .9--11 Most reports appear in the cancer literaturela-la or (in the case of generalized forms in which bone lesions are common) in the radiologic literature. e*17Few reports have appeared in pediatric or pediatric surgical literature.18-z1 The aim of this communication is to familiarize the surgeon with the behavior of such tumors in order to avoid unnecessary mutilating radical surgery. It may even be the duty of the clinician to alert the pathologist unfamiliar with pediatric problems. Five cases of congenital fibroblastic tumors are described to illustrate their clinical appearance and behavior. Although such tumors can be present at any age, we have for didactic reasons selected only the congenital ones. CASE

REPORTS

Case 1 The patient is the third male child of healthy parents. Pregnancy was complicated by bleeding in the 18th week; treated with hormones. The child was born in the 39th week of gestation. Delivery was normal; birth weight was 4070 g. He was noted to have a hard, tumor-like swelling in the left upper arm extending into the axilla, with partial radial nerve palsy (Fig. 1A). The tumor was attached to the deeper structures as well as to the overlying skin. A radiogram showed the soft-tissue swelling with mild deformation of the shaft of the humerus (Fig. 1B). Tests were noncontributory. The tumor was excised at the age of 4 days. Macroscopically, it consisted of dense fibrous tissue invading the muscle, the radial nerve, and the brachial artery. It could be separated from the skin, but in the region of the nerve and vessels it was not possible to remove the tumor completely. Wound healing was uneventful. Histologic appearance was that of dense fibrous tissue of varying cellularity. The more cellular areas consisted of spindle-shaped fibroblasts, with some pleomorphism and occasional mitoses. At the age of 9 mo, the tumor recurred locally and was reexcised. There has been no further recurrence for 5 yr. The radial palsy has remained stationary. Bone growth is normal.

From the University Children’s Hospital, Ztlrich. Switzerland. Presented before the 20th Annual Congress of the British Association of Paediatric Surgeons, London, July 25-27.1973. J. Plaschkes, M.D.: University Children’s Hospital, Department of Surgery, Zfirich. Switzerland. Address for reprint requests: J. Plaschkes, M.D., University Children’s Hospital, Steinwiesstrasse 75, 8032 Zlirich, Switzerland. (E,1974 by Grune & Stratton, Inc. Journal of Pediatric Surgery. Vol. 9. No. 1 (February). 1974

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Fig. 1. Case 1. (AI Swelling of the left upper arm. (B) Soft tissue swelling and deformation of the humerus.

Care2 The patient is the first born female child of healthy parents. The mother received hormones during pregnancy. The child was born at term. Delivery was normal; birth weight was 2500 g. A hard swelling in the left calf was noted after birth. Its circumference was 3 cm more than that of the right calf. She was admitted at the age of 6 wk for biopsy of the swelling. The rest of the physical examination and laboratory test were noncontributory. At operation, both heads of the gastrocnemius muscle were replaced by dense fibrous tissue with indefinite borders. The tissue was not excised, for it would have involved removing the whole gastrocnemius. A biopsy specimen was taken. Histology showed degenerating muscle fibers invaded by large areas of fibrous scar tissue. Some of the scar tissue contained numerous vessels and some mild perivascular lymphocytic infiltration. Healing was uneventful. The child was observed at the follow-up clinic. The swelling of the calf has remained, but grown only in proportion with the child. The function of the leg remains normal. At the age of 3 a further biopsy was taken, which showed a mature fibroblastic tumor with no mitoses. No further treatment has been given.

Case3 This patient is the first born female child of healthy parents. Birth was at term, and delivery was normal. Birth weight was 3330 g. Soon after birth, a swelling was noted on the extensor surface of the right forearm. That appeared to be attached to the deeper structures. A radiogram showed the softtissue swelling and some pressure atrophy of the ulna. At operation at the age of 6 wk, a white, glistening, infiltrating tumor was found in the extensor muscles invading the interosseous membrane and intermuscular septae. The tumor was completely excised with some extensor muscle loss. Histologically, it consisted of scarlike, mostly acellular, fibrous tissue with other areas containing more cellular spindle cells. There has been no recurrence of the tumor for 3 yr. A Jones-type tendoplasty was performed for the extensor muscle loss and is functioning satisfactorily.

Case 4 The boy is the first male child of healthy unmarried parents. Pregnancy was uneventful. Birth was spontaneous at 30th wk of gestation. Delivery was normal; birth weight was 1360 g. Immediately after birth a scar-like swelling was noted in the left axilla (Fig. 2A). A l-cm subcutaneous hard swelling appeared in the left gluteal muscles a few days later. The left arm was almost completely paralyzed and the radial pulse weak on that side. A radiograph showed a soft-tissue swelling and bone erosion of the scapula and humerus (Fig. 2B). A skeletal survey did not detect any other lesions. At the age of 2 wk, the gluteal tumor was excised. It was hard and infiltrated the muscles, as well as being closely attached to

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Fig. 2. Case 4. (A) Tumor swelling in the axilla. (B) Bone erosion of scapula and humerus. (Cl Radiography of Case 4 at the .age of 1 yr with practically normal bone growth.

the overlying skin. Histologically, it was very cellular, fibroblastic, and infiltrated the muscles. The ceils were pleomorpbic, with numerous mitoses. Some inflammatory infiltration and vascular proliferation were present. The paralysis of the arm increased and edema appeared in the hand, so that it was felt necessary to excise the axillary swelling as well. This was done at 5 weeks. At operation, a fibrous infiltrative ill-defined tumor was found. It surrounded the brachial artery and the axillary plexus. These were separated from the tumor and as much as possible was excised. Wound healing was uneventful. The histologic appearance of the tumor was similar to the gluteal one. Since bone was seen also, it was described as an early myositis ossificans by one pathologist. Since then the edema of the hand has subsided, and the paralysis has remained stationary. There has been no further growth or recurrence of the tumor for 1 yr. Bone growth is almost normal (Fig. 2C).

Case 5 The patient is the second female child of healthy parents. Pregnancy was normal. She was born 2 wk after term; delivery was normal. Birth weight was 3440 g. Immediately after birth a hard swelling was noted in the right parotid region with some facial nerve palsy. (Fig. 3A). In addition, there was a minute 0.5-cm nodule in the skin over the right scapula and the left calf. Many more small discrete scars resembling healed chicken pox were also seen mainly on the back, the legs, and the buttocks. The rest of the physical examination and routine laboratory test including serology for cytomegaly, toxoplasmosis, and rubella were noncontributory. Radiography showed multiple bone lesions consisting of osteolytic foci, mainly in the metaphyses of the long bones but also in other areas, particularly in the pelvis (Fig. 3B). Biopsy of all the lesions (excluding bone) were performed at the age of 1 wk. They all showed a very cellular infiltrating fibroblastic tumor arranged in strands and whorls. There were some mitoses. A diagnosis of congenital generalized fibromatosis was entertained. A week later a more radical excision of the “parotid” tumor was attempted for cosmetic reasons and in order to try to release the facial nerve. It was possible to free the nerve, which was completely enclosed by the tumor and as much tissue as

Fig. 3. Case S. (Al Swelling in the right parotid region. (B) Multiple bone foci in the metaphyses long bones and pelvis. (C) Marked increase in the bony lesions at 6 wk.

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possible was resected. Wound healing was uneventful. The child was closely observed. At the age of 6 wk, she was feeding poorly and losing weight. Radiography showed a remarkable increase in the bony lesions (Fig. 3C). It was thought likely that other internal organs might be involved and, because it is known that in these cases the prognosis is poor, steroids were tried (20 mg prednisone daily). The general condition improved, and at the age of 3 mo there was marked regression of the bone lesion. Steroids were then discontinued. Since then the child has developed normally and has been followed up for over a year. The facial palsy is stationary. There has been no local recurrence of the tumor, and bone lesions are minimal. Because of the multiple skin scars, an intrauterine viral infection was considered, and electromicroscopy and culture of the tumor were performed, but no evidence for such an etiology was found. DISCUSSION

The term “fibromatosis” is used to define a tumor-like proliferation of fibroblastic tissue, of varying cellularity, with or without mitosis. It usually shows an infiltrative growth and has a tendency to recur locally, without being truly malignant or giving rise to metastases. All the cases presented fall into this category. Congenital fibromatosis can be subdivided into three groups: (1) Localized-confined to one site in the soft tissues and most commonly arising in muscle, fascia, or subcutaneous tissue. (2) Multiple-similar to (1) but at more than one site. (3) Generalized-at multiple sites with involvement of bone and/or internal organs (liver, gut, heart, lungs, etc.). This type was often previously considered to be a fibrosarcoma with metastases, but it is now clear that the origin is multifocal. The prognosis of the first two groups is almost uniformly good except for possible local recurrence. In the generalized form the mortality is up to 90% when vital internal organs are invo1ved.22 The cases presented are summarized in Table 1. Case 1 and case 3 are of the localized type, case 4 belongs to the multiple group, and case 5 is generalized, with no definite evidence of internal organ involvement. Although only five in number, they do illustrate rather well the main clinical features found in larger collected series. These are as follows: The tumors are most common in the head, neck, and upper extremities; they grow only slowly, often eroding bone and compressing nerves and vessels; they tend to recur locally when not completely excised but spontaneous regression is possible in time; the generalized form is relatively rare; in other series, males are most often affected. The histologic spectrum ranges from dense acellular scar tissue of the desmoid type to very cellular pleomorphic differentiated fibrosarcoma. It is not intended to discuss exact microscopic appearances which even, among experts, gives rise to different opinions. The reader is referred to the detailed description by Stout.13 However, it is of interest to mention the clinical classification. The following forms of fibromatoses applicable to children are differentiated: (1) fibromatosis colli: refers to the well-known sternomastoid tumor of newborns producing wry neck; (2) congenital fibromatosis: as described above; (3) juvenile aponeuroticjibroma: a calcifying fibroma occurring in the hands and feet of young children; (4) progressive myositis fibrosa: an early stage of infantile myositis ossificans; (5) diffie muscular fibrosis; (6) pseudosarcomatous nodular fascitis: more common in adults and with signs of inflammation; (7) differentiutedfibrosarcoma. Reyeza and Enziger” described in addition, a subdermal form in infants using the term “fibrous hamartoma.”

CONGENITAL

Table 1. Congenital case H.M. d

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FIBROMATOSIS

Site L. Upper Arm

Fibromatosis;

Histology

lnvolvsment

Infiltrating

Muscle. humerus.

fibroblastic

n. axillaris

L. Ca’f

eitcision

Recumwlcs Reoperated local recurrence none since

Biopsy Only

Follow-up 5 Yr

9 mo for

acellular

fibroblastic

muscle

Therapy Local

tumor

Infiltrating

Gastrocnemius 7”.

Localized and Generalizad

Still only at

3 l/2

Yr

original site

tumor diffuse R. Forearm ‘n”,

Infiltrating

Extensor muscles and tendons

Wide

fibroblastic

local

tumor

excision

3 Yr

very cellular K.P. d

Multiple

Infiltrating

Shxtlder, muscle,

fibroblastic

scapula, n. axillaris.

inflammatory

m. gluteos

reaction

Local

1 Yr

excision

Myositis? GhM.

Generalized

Fibroblastic

R. parotid (+facial nerve). skin

+ vascular

(multiple), multiple

proliferation

Local excision

No recurrence.

1 Yr

Regression of bone lesions

bone lesions

The fact that the well-known sternomastoid tumor is included should not cause surprise. Although it has often been attributed to birth trauma, the evidence is not very convincing. Lack of fresh bleeding or appreciable signs of old hemorrhage, together with the microscopic appearance are the cause of reasonable doubt for such an etiology. 24--27It is very useful to recall this tumor and its behavior as a guide to the treatment of other forms of fibromatosis. Little or nothing is known about the etiology of the fibromatoses and various theories have been proposed. The increased estrogen theory is supported by the following facts: The tumor can be produced experimentally in guinea pigs with estrogens;as the abdominal desmoid is more common in pregnant women; plantar fibromatosis is known to be more common in patients with liver disease (raised estrogens); in addition, increased gonadotropin has been found in these tumors.2Q In connection with this theory it is of interest that, in two of our five cases, the mothers were treated with estrogen during pregnancy. The only evidence for a viral cause stems from the fact that inclusion bodies have been described in the tumor.ao In our case with multiple scars (No. 5), tissue culture on monkey cells and electron microscopy of the tumor did not produce any evidence for a viral etiology. Cases of fibromatosis in one family have also been described,al and the mesenteric form known as Gardener’s disease is known to be familial. Trauma has been implicated in fibromatosis colli and in some of the tumors forming in scars. CONCLUSION

From the natural history and behavior of the tumors presented, as well as from the literature, a logical basis for therapy may be evolved. In the localized form, the

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treatment of choice consists of a biopsy and, as far as possible, total removal of the tumor without the need for radical surgery when vital structures are involved. Frozen-section biopsies are usually not very helpful. Even repeated excisions can eventually lead to a cure. In general, it is not advisable to postpone surgery and hope for a spontaneous resolution. In the generalized form only, the troublesome lesions should be excised. The role of steroids is unknown. SUMMARY

Five cases of congenital fibromatosis are presented. Three were localized, one multiple, and one generalized. The essentially benign nature of the tumor is stressed apart from the possibility of local recurrence. The tumors are discussed in relation to other forms of juvenile fibromatoses. The etiology remains obscure. Conservative surgical removal is advocated. REFERENCES I. Wells HG: Occurrence and significance of congenital malignant neoplasms. Arch Pathol 30535, 1940 2. Andersen DH: Tumours in infancy and childhood. I. Survey of those seen in pathology laboratory of the Babies Hospital during years 1939-1950. Cancer 4:890,1951 3. Williams JO, Schrum D: Congenital fibrosarcoma. Arch Path015 1548, I95 I 4. Richardson WR, Dewar JP: Problems in managing fibrous tissue tumors in infants and children. Surgery 56:426, 1964 5. Shore BR: Spontaneous cure of congenital occurring connective tissue tumor. Am J Cancer 27~736, 1936 6. Teng P, Warden MJ, Cohn WL: Congenital generalised fibromatosis (renal and skeletal) with complete spontaneous remission. J Pediatr 62:748, 1963 7. Pack GT, Ariel IM: Fibrosarcoma of the soft somatic tissue. Surgery 31:443, 1952 8. Stout AP: Juvenile fibromatoses. Cancer 7:953, 1954 9. Kauffman SL, Stout AP: Congenital mesenchymal tumours. Cancer 18:460, 1965 IO. Mtlller G, Schweizer P, Flach A: Juvenile libromatose. Virchows Arch Pathol Anat 349: 138, 1970 I I. Mackenzie DH: The fibromatoses: A clinico-pathological concept. Br Med J 4:277, 1972 12. Stout AP: Pseudosarcomatous fascitis in children. Cancer 14:1216, 1961 13. Stout AP, Latte R: Armed Forces Institute of Pathology. Atlas of Tumour Pathology. Fast I, Second Series, 1967 14. Enziger FM: Fibrous hamartoma in infancy. Cancer 18:240, 1965

15. Fievez M, Mandord AF: Les fibromatoses de l’enfant a propos de 22 cas. Ann Anat Pathol (Paris) N.S., Il:83, 1966 16. Condon VR, Allen RP: Congenital generalised fibromatosis: case report with roentgen manifestations. Radiology 76:444, 1961 17. Morettin LB, Milller E, Schreiber M: Generalised hamartomatosis. (Congenital generalised fibromatosis) Am J Roentgen01 Radium Ther Nucl Med 104:722, 1972 18. Beatty EC: Congenital generalised fibromatosis in infancy. Am J Dis Child 103:620, 1962 19. Streit W, Kirsch W: Multiple fibroblastiche Proliferationsherde bei einem Neugeborrenen. Helvet Paediatr Acta 22:27 1, 1967 20. Daudet M, Chappius JP, Salle B, Rosenberg D, Mamelle JC: Fibromatose congenitale multiple. Ann Chir Infant 10:273, 1969 21. Connoly NK: Juvenile fibromatosis. Arch DisChild36171, 1961 22. Schnitka RK, Asp DM, Horner HR: Congenital generalised fibromatosis. Cancer 11:627, 1958 23. Reye RDK: A consideration of certain subdermal fibromatous tumour of infants. J Pathol Bacterial 72:149, 1956 24. Middleton DS: Pathology of congenital torticollis. Br J Surg 18:188, 1930 25. Lidge RT, Bechtol RC, Lambert NC: Congenital muscular torticollis etiology and pathology. J Bone Joint Surg (Am) 38: 1165, 1957 26. Chandler FA, Altenberg A: Congenital muscular torticollis. JAMA 125:476, 1944 27. Kieswetter WB, Nelson PK, Palladino VS, Koop CE: Neonatal torticollis JAMA 157:1281, 1955 28. Nadel EM: Histopathology of Oestrogen

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induced tumours in guinea pigs. J Nat Cancer Inst 10:1043, 1950 29. Geschickter CF, Lewis D: Tumours of connective tissue. Am J Cancer 25:630, 1935

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30. Battifora H, Hines JR: Recurrent digital fibromas of childhood. Cancer 27:1530,1971 31. Bartlett RC, Otis RD, Laakso AO: Multiple congenital neoplasms of soft tissue. Cancer 14:913, 1961