Infantile Myofibromatosis Right Inframammary Regions Had Telan- Giectatic Areas Over It and Were Also Fixed to the Overlying Skin (Fig

INDIAN PEDIATRICS VOLUME 32-FEBRUARY 1995

Infantile Myofibromatosis right inframammary regions had telan- giectatic areas over it and were also fixed to the overlying skin (Fig. 2). There was no abdominal mass or bony lesions on clinical examination. A provisional Jacob Chacko diagnosis of neuroblastoma with skin Joyce Ponnaiya nodules was made. Sudipta Sen The chest X-ray and abdominal Ninan Zachariah ultrasound examinations were normal. K.E. Mammen Biopsy of the left inframammary nodule showed a benign spindle cell tumor which was thought to be a fibrous histiocytoma. With this diagnosis, the other lesions were also excised. All the We report a neonate presenting with lesions showed fairly well-delineated a large labial mass with multiple subcu- proliferations of spindleshaped cells. taneous nodules. A diagnosis of mul- Two patterns were noted. The first pat- tiple secondary neuroblastoma nodules tern seen in the periphery of the lesions was made initially. However, biopsy showed plump, spindle-shaped cells showed the tumor to be infantile with elongated vesicular nuclei arran- myofibromatosis. ged in whorls and interlacing bundles (Fig. 3). These cells superficially Case Report resembled smooth muscle cells but his- A two day old female baby pre- tochemical stains showed features of sented with a hard nodular mass mea- smooth muscle and collagenous diffe- suring 4 cm x 3 cm in the right labium rentiation. The second pattern in the majus (Fig. 1), along with multiple sub- central part of the lesion showed cutaneous nodules in the left buttock, smaller, oval cells arranged around vas- left arm, the left supraclavicular and cular spaces in a pericytomatous pattern right inframammary regions. The labial (Fig. 4). The two patterns blended mass was bulging into the right lateral smoothly. There were no histological or wall of the vagina with the vaginal mu- cytological features of malignancy. cosa stretched over it. The subcutaneous A skeletal survey revealed lytic nodules were firm and mobile. The lesions with peripheral sclerosis in the lesions in the left supraclavicular and upper ends of the left humerus and in both femurs (Fig. 5). At 12 weeks of age, From the Departments of Pediatric Surgery and the baby was doing well except for two Pathology, Christian Medical College and new subcutaneous nodules which had Hospital, Vellore 632 004. developed in the right supraclavicular Reprint requests: Dr. Jacob Chacko, Department region and in the anterior abdominal of Pediatric Surgery, Christian Medical wall. There was no recurrence in the College and Hospital, Vellore 632 004. previously excised sites. There was no Received for publication: March 2,1994; evidence of any pulmonary or gastroi- Accepted: June 15,1994

225

IM commonly presents in neonates and young- infants although older chil- dren and, rarely, adults can also be affected. Classically, the disorder occurs in two forms: a solitary variety occur- ring in the skin, subcutaneous tissues or muscle; and a multicentric variety involving skin and subcutaneous tissues and bone, with or without visceral involvernent(2,3). The typical presenta- tion is with multiple, well-circum- scribed firm, rubbery nodules in the skin, subcutaneous tissue and muscle. One of the nodules may be larger in size than the others, and the picture may resemble that of a primary malignant tumor with multiple metastases(3). Some of the nodules may show a pur- plish discoloration of the overlying skin, giving the appearance of a heman- gioma(2,3). Labial involvement has not been reported previously. Bones commonly affected are the skull bones and metaphyseal regions of the long bones, chiefly the femur and tibia, but the ver- tebrae, ribs and pelvis may also be affected. They are seen as well-circum- scribed lytic lesions with a sclerotic margin, in the roentgenogram(2,4). When there is visceral involvement, the gastrointestinal tract and the lung intestinal dysfunction, and the baby is are the commonly affected sites, but being followed up. other viscera like the myocardium, pan- creas, omentum, brain, spinal cord, Discussion larynx and tongue can also be in- volved(2,5,6,7). Gastrointestinal lesions, Infantile myofibromatosis (IM) was when diffuse, cause a severe watery first described by Stout in his article on diarrhea while solitary lesions may pro- juvenile fibromatosis in 1954(1). It was duce intestinal obstruction(8,9). Pulmo- described as congenital generalized nary involvement gives the appearance fibromatosis, multiple mesenchymal of a diffuse interstitial pneumonia or hamartomas and multiple vascular bronchopneumonia on the chest roent- leiomyomas of newborn till Chung and genogram, and causes respiratory dis- Enzinger coined the term infantile tress(2). Spinal lesions can cause myofibromatosis(2). cord

228 INDIAN PEDIATRICS VOLUME 32-FEBRUARY 1995 compression. IM has been occasionally fibrous tumor of infancy. J Pediatr reported to occur in families and both Surg 1988, 23: 314-318. autosomal dominant and autosomal 4. Nagase H, Yamaguchi Y, Morinaga H, recessive modes of transmission have Sera Y, Ogawa M. Multicentric infan- been proposed(10,11). tile myofibromatosis with sponta neous regression. Pediatr Surg Int Microscopically, the nodules consist 1993, 8: 84-86. of bundles of plump, spindle-shaped cells in the periphery of the lesion dis- 5. Marks MK, Dewan PA, Stokes KB, Smith AL, Me Kelvie P. Infantile playing staining characteristics interme- myofibromatosis causing biliary and diate between fibroblasts and smooth pancreatic obstruction. Med Pediatr muscle cells arranged in short fascicles Oncol 1988,16: 363-365. resembling a leiomyoma. In the centre of the nodule, necrosis or a hemangio- 6. Narasimharao KL, D'Cruz AJ, Patel RV, Narasimhan KL, Bannerjee CK, pericytoma-like pattern is seen. Intra- Mitra SK. Infantile myofibromatosis of vascular growth is occasionally encoun- omentum. Z Kinderchir 1988, 43: tered(2). 50-51. IM must be considered in the diffe- 7. Speight PM, Dayan D, Fletcher CD. rential diagnosis when an infant pre- Adult and infantile myofibromatosis: sents with multiple subcutaneous A report of three cases affecting the nodules. When there is no visceral oral cavity. J Oral Pathol Med 1991, 20: involvement, the disease is benign and 380-384. self limiting and no active treatment is 8. Saguem MH, Brochu P, Ouimet A. An necessary. Although new nodules may isolated intestinal form of infantile develop, they invariably regress by the myofibromatosis. Ann Pathol 1990, 10: age of about two years(4). However, 126-129. with visceral involvement, the progno- 9. Chang WW, Griffith KM. Solitary sis is worse and death is often due to intestinal fibromatosis: A rare cause of cardiorespiratory complications or intestinal obstruction in neonate and severe diarrhea. infant. J Pediatr Surg 1991, 26: 1406- 1408. REFERENCES 10. Bracko M, cindro L, Golouh R. Fami- 1. Stout AP. Juvenile fibromatosis. lial occurrence of infantile myofi- CancQr 1954, 7: 953-978. bromatosis. Cancer 1992, 69: 1294- 2. Chung EB, Enzinger FM. Infantile 1299. myofibromatosis. Cancer 1981, 48: 11. Venecie PY, Bigel P, Desgruelles C, 1807-1818. Lortat-Jacob S, Dufier JL, Saurat JH. 3. Wiswell TE, Davis J, Cunningham BE, Infantile myofibromatosis-Report of Solenberger R, Thomas PJ. Infantile two cases in one family. Br J Dermatol myofibromatosis: The most common 1987,117:255-259.

229