Juvenile Fibromatosis in Siblings (Fibromatosis Hyalinica Multiplex Juvenilis )

By EDWARD DRESCHER, STANISLAW WOYKE, CZESLAW MARKIEWICZ AND STANISLAW TEGI

WO SIBLINGS, a boy and a girl, aged 5 and 4 years respectively, were rst seen in 1962. From the age of 2, tumors had appeared on their heads,

shoulders and extremities. The tumors grew slowly and were painless, and only an ulceration of one of them overlying the sacrum in the boy made their parents ask for a medical opinion. The parents and the other four sib- lings were well.

On clinical examination there were tumors ranging from 0.5 to 5 cm. on the head, back and elbows (Fig. 1). They were painless, elastic and adherent to the overlying normal skin. The distribution of the tumors was similar in both children. General condition of the children was good and their mental de- velopment was normal. Neither laboratory tests nor radiological examina- tions revealed any abnormalities.

One tumor was removed from each child for histologic study. Adrenocorti- cal preparations were gSven with no benefit.

In the course of the following 4 years hypertrophy of gums (Fig. 1) and nail beds, as well as tumors of the nasal crest, chin and palmar digital surfaces were observed. Some tumors started as a fiat plaque in the skin and then formed a small tumor which grew to reach a considerable size. Tile largest tumors, which were either disfiguring or interfering with movements, were removed---30 tumors in all. Occasionally we had the impression that the tumors were partly encapsulated but usually they were adherent to the sur- rounding tissues. Larger tumors had the appearance on cross-section of hyaline edematous tissue. The smaller tumors were more fragile. In general there were no recurrences following removal, except in a few instances after a few months. Recently it was felt that the growth of the tumors in the older child, now 9 years old, showed some signs of regression.

The histologic picture of all tumors was similiar. There was an abundance of a homogenous, amorphous, acidophilic ground substance with "embedded" spindle-shaped cells forming minute streaks. The cytoplasm of the cells was moderately abundant and somewhat frothy. In some streaks between the cells there were fine fibers which were stained by silver stains (Fig. 2C). The nuclei were oval or spindle-shaped and contained delicate, finely granu- lar chromatin. Nucleoli were observed in some nuclei (Fig. 2F). At the periphery of the tumor there was infiltration of striated muscles (Fig. 2E). Tumor tissue surrounded the nerve trunks and penetrated the skin.

The cells were closely packed one beside the other in the ground sub- stance, which was distributed in narrow streaks between the cells (Fig. 2D,

From the Children's Surge~ Clinic and the Institute o~ Pathological Anatomy of the Pomeranian Medical Academy at Szczecin, Poland.

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JOURNAL OF PEDIATRIC SURGERY, VOL. 9., NO. 5 (OcToBER), 1967

428 I)RESCHER, WOYKE~ MARKIEWICZ~ TEGI

Fig. 1.mA, Tumors of the head in siblings. B, Hypertrophy of the gums. C, Tumors of the head, along the vertebral column and in the region of the elbows. Some of the tumors of the head have been removed.

F). In larger tumors there was much more ground substance (Fig. 2A,B,C). In places where single cells were located in a diffuse, homogenous substance the picture somewhat resembled that of cartilage. Mitotic division was very rarely seen.

The amorphous ground substance was distinctly PAS-positive. The color disappeared after acetylation and reappeared following deacetylation. During Astra Blue staining for acid mucupolysaccharides the reaction was slightly positive with moderate intensification of the color seen around the nuclei singly embedded in the homogenous ground substance.

The ground substance stained somewhat more intensely with Astra Blue in solution containing MgCI~ at concentration which permits the staining of chondro-itinosulphates, keratosulphates and hyaluronic acid. In electrophoresis of extracts taken from the tumors, a trace of hyaluronic acid was found, as well as a slightly higher amo,mt of chondro-itinosulphates.

DISCUSSION

An attempt may be made to classify the presented cases into one of the known groups of fibromatosis. Their clinical picture is found to be very simi- lar to that of generalised neurofibromatosis, yet there are some differences. The latter include the relatively fast growth of the tumors, the nodular

JUVENILE FIBROMATOSIS 429

Fig. 2.--A, B, Section taken from a large tumor. Cells arranged singly or in streaks are lying in a diffuse amorphous stroma. Hematoxylin-eosin: A, 90X; B, 130• C, Numerous silver impregnated fibers are seen among the cellular streaks. Silver staining after Pedrau. 130• D, F, Section from a small tumor. Multicellular structure. The amorphous ground substance is confined to narrow streaks which are visible between the cells. Hematoxylin-eosin: D, 130X; F, 380• E, Section from the periphery of a small tumor, showing infiltration between the fibers of the surrounding striated muscle. Hematoxylin-eosin: 50 X

hypertrophy of the gums, the growth of the majority of tumors within hairy part of the head and as the lack of skin pigmentation of caf~-au-lait type. Also, the histology of the tumors rules out the possibility of classifying them as neurofibroma or neurilemmoma. The growth of the tumors was mainly within the subcutaneous tissue without the skin being involved. The mucous degen- eration of the stroma that appears sometimes in neurofibromas was not seen. The difference between generalized fibromatosis and our patients lay chiefly in the age of the patients and the distribution of the lesions3, ~,7 The multi- plicity of tumors, their distribution and the histologic picture ruled out forms

430 DRESCHER, WOYKE, MARKIEWICZz TEGI

of local fibromatosis, such as: desmoid fibromatosis, 4,6 plantar and palmar fibromatosis s or juvenile aponeurotic fibroma. 2,5 They also differed from keloid fibromatosis.

Numerous tumors in these patients within the hairy part of the head sug- gested the clinical picture of turban tumor or cylindroma. The homogenous, acidophilic, ground substance, surrounding the epithelial nests and appearing among these nests in cylindroma, was not found in our cases. The histo- chemical studies of the tumors indicate that the homogenous, amorphous substance is slightly similar to the ground substance of the skin but it does not resemble the cartilage.

On the basis of classification of the connective tissue tumors our cases fall into the class of juvenile fibromatosis. However, the unusual picture, the clin- ical course and occurrence in the siblings make our cases differ from the o ther kinds of fibromatosis described by Stout. It is felt that we are dealing with a hitherto undescribed form of connective tissue disorder and we suggest the following term: fibromatosis hyalinica multiplex juvenilis. Surgical re- moval of the tumors resulted in restoration of the appearance and function of the affected children.

A relatively long period of clinical observation allows us to conclude that the tumors display no features of malignant change and that the problem may partly be solved by surgical removal of the tumors.

SUMMARY

The clinical course and histology of multiple tumors of the subcutaneous tissue occurring in two siblings indicate a new entity: multiple, juvenile, hyaline fibromas.

SUMMARIO IN INTERLINGUA Le eurso clinic e le histologia de multiplice tumores del tissus subcutanee, observate in

duo fraternos, indica un hove entitate, i.e., multiplice fibroma hyalin juvenil.

: ACKNOWLEDGMENT We would like to thank Associate Professor Krygier-Stojalowska for her help in carrying

out the histochemicals tests.

REFERENCES

1. Beatty, E. C., Jr.: Congenital general- ized ~bromatosis in infancy. Amer. ]. Dis. Child. 103:620, 1962.

2. Keasbey, L. E.: Juvenile aponeurotic fi- broma (calcifying fibroma); a distinc- tive tumor arising in the palms and soles by young children. Cancer 6: 338, 1953.

3. Mande, R., Hennequet, A., Loubry, P., Cloup, M., and Marie, J.: Fibromatose eongenitale diffuse du noveneau a 6volution r~gresive. Ann. Pediat. (Paris) 12:692, 1965.

4. Richardson, W. R., and Devar, J. P.: Problems in managing fibrous tissue

tumors in infant and children. Sur- gery 56:426, 1964.

5. Rios-Dalens, J. L., Kim, J. S., and Mc- Dowell, F. W.: The so-called juvenile aponeurotic fibroma. Amer. J. Clin. Path. 44:632, 1965.

6. Rosen, R. S., and Kimball, W.: Extra- abdominal desmoid tumor. Radiology 86:534, 1966.

7. Shnitka, T. K., Asp, D. M,, and Horner, R. H. : Congenital generalized fibroma- tosis. Cancer 11:627, 1958.

8. Stout, A. P.: Juvenile fibromatoses. Can- cer 7:953, 1954.