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Infantile fibromatosis of the sternocleidomastoid muscle mimicking muscular torticollis
Infantile Fibromatosis of the Sternocleidomastoid Muscle Mimicking Muscular Torticollis By Saniye Ekinci, ˙Ibrahim Karnak, and F. Cahit Tanyel Ankara, Turkey
Infantile fibromatosis is a rare entity in children. Although the cervical region is one of the frequent sites of location for this tumor, the diagnosis may be delayed if it occurs in a usual location for a well-known entity, such as muscular torticollis or fibromatosis colli. The authors present an infant with infantile desmoid fibromatosis of the sternocleidomas-
toid muscle, which has been considered initially as olive of muscular torticollis. J Pediatr Surg 39:1424-1425. © 2004 Elsevier Inc. All rights reserved.
P
ROLIFERATIVE DISORDERS of the fibrous tissue exhibit a wide spectrum of histologic and morphologic variations in childhood. Fibromatoses are considered in the benign part of fibrous tumors and are classified into infantile fibromatosis (IF), fibromatosis colli, aggressive fibromatosis, fibrous hamartoma of infancy, infantile digital fibromatosis, myofibroma, juvenile hyaline fibromatosis, juvenile angiofibroma, Dupuytren’s fibromatosis, and juvenile aponeurotic fibroma.1-3 Herein, we report on an infant presenting with a sternocleidomastoid (SCM) tumor, which had been diagnosed initially as fibromatosis colli or olive of muscular torticollis, but later proved to be a desmoid type IF of the SCM muscle.
At operation, a hard, irregular, fixed tumoral mass in the SCM muscle was found, and only partial excision could be performed because of infiltration of the adjacent structures. Histopathologic examination showed that the tumor was composed of spindle-shaped cells of fibroblast origin and dense collagenous fibers, which were consisted with infantile desmoid fibromatosis. Lymph nodes were reactive. The tumoral tissue showed no staining for estrogen receptors in immunohistochemical study. The family refused chemotherapy. Reoperation was necessitated because of rapid growth of the tumor 6 months after the first operation. At the second procedure, the tumoral mass was 5 ⫻ 6 cm in size and densely adhered to the surrounding tissues. Under these circumstances, it was considered as unresectable. The new biopsy results were identical to the previous one on histopathologic examination. The patient is still under follow-up. The tumor is slowly growing, restricting neck movements and leading to a fixed position of the head during the next 2 years.
CASE REPORT
DISCUSSION
A 4-month-old boy was admitted to the hospital with the complaint of cervical swelling, which had been noticed 2 weeks before. He was full-term baby and born to a healthy woman after a noncomplicated pregnancy by spontaneous vaginal delivery. Birth weight was 4,050 g. Physical examination found a hard mass of 1.5 ⫻ 1.5 cm in the right cervical region. Rotation to the ipsilateral site and lateral flexion to the contralateral site of the head was restricted, and it was presumably considered as muscular torticollis also known as fibromatosis colli. The mass was found enlarged 6 weeks later at control examination in spite of intensive program of passive stretching exercises. Neck ultrasonography showed a 4- ⫻ 3-cm, solid heterogeneous mass in the SCM muscle. Computerized tomography (CT) of the neck showed a thickened (3.5 cm) SCM muscle with associated cervical lymph nodes of which the largest was 1.5 cm in diameter (Fig 1). Parotid and submandibular glands were displaced anteriorly by the mass and were normal in density. Cervical vascular structures also were found to be normal.
Fibromatosis colli is a self-limiting disorder that is characterized by an SCM tumor. It usually appears in the first few weeks of life and can grow rapidly and result in torticollis. It usually disappears within the first year of life without necessitating surgical intervention.1,4 Although its clinical features are typical, differential diagnosis includes vertebral anomalies, disorders of ocular muscles, Sandifer’s syndrome and superficial and deep cervical infections that can cause torticollis. The current case has been initially diagnosed as a classical tumoral swelling that is encountered in muscular torticollis or fibromatosis colli. However, rapid growth of the tumor and increased thickening of SCM muscle raised the possibility of another tumor, such as rhabdomyosarcoma, or a tumor originating from out of the muscle but infiltrating the surrounding structures, such as neuroblastoma. IF or infantile myofibromatosis is a rare tumor that may originate from muscles, aponeurotic tissues, and even periosteum of the head and neck region. More rarely, it may originate from muscles of the upper extremities. IF may be solitary or multiple. It usually
From the Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey. Address reprint requests to I˙brahim Karnak, MD, Hacettepe University Faculty of Medicine, Department of Pediatric Surgery, 06100 Ankara, Turkey. © 2004 Elsevier Inc. All rights reserved. 0022-3468/04/3909-0025$30.00/0 doi:10.1016/j.jpedsurg.2004.05.022 1424
INDEX WORDS: Desmoid, infantile fibromatosis, torticollis.
Journal of Pediatric Surgery, Vol 39, No 9 (September), 2004: pp 1424-1425
FIBROMATOSIS OF STERNOCLEIDOMASTOID MUSCLE
1425
Fig 1. CT of the neck shows solid tumoral mass located in the sternocleidomastoid muscle.
occurs in the first years of life with a slight predominance in boys. Although trauma has been suggested to play in its histogenesis, the exact cause is not yet known. Additionally, clonal chromosomal abnormalities may play a role in its genesis.5 Although IF has benign histologic features, it is not encapsulated, it is locally aggressive, and it can invade
adjacent structures. It usually is a fixed tumor, and total resection often is impossible, as encountered in our case. The treatment of IF is mainly surgical. Complete resection with safe margins is the best therapeutic approach. However, total excision may not be possible because of the local invasive nature of the tumor, and sometimes vital structures may not give the opportunity for total excision. Overall recurrence rate after excision of IF is reported to be 50%, and recurrence is more frequent, especially in head and neck location (60 to 70%).6 Radiotherapy and chemotherapy are reserved for unresectable IF.7,8 Adverse effects of radiotherapy such as tissue atrophy, hypopituitarism, growth disturbance of facial bones, and secondary carcinomas limit its use in infants.9,10 Chemotherapy has also been attempted in selected cases. Tamoxifen is an antiestrogen agent that may be used in estrogen receptor–positive IF. It has been recommended as a nonaggressive alternative to radiotherapy and chemotherapy for unresectable tumors.11 Estrogen receptors were negative, and this mode of therapy could not be used in current case. IF is a rare fibromatosis tumor proliferation of fibroblastic and myofibroblastic cells. It should be included in the list of pathologies that should be considered in the differential diagnosis of torticollis.
REFERENCES 1. Vacanti JP, Cusick RA: Tumors of the soft tissues, in O’Neill JAJr, Rowe MI, Grosfeld JL (eds): Pediatric Surgery. St Louis, MO, Mosby, 1998, pp 1911-1924 2. Schmidt D, Harms D: Fibromatosis of infancy and childhood. Histology, ultrastructure and clinicopathologic correlation. Z Kinderchir 40:40-46, 1985 3. Vos A: Rare tumors, in Carachi R, Azmy A, Grosfeld JL (eds): The Surgery of Childhood Tumors. London, England, Arnold, 1999, pp 381-402 4. Eich GF, Hoeffel JC, Tschappeler H, et al: Fibrous tumors in children: Imaging features of a heterogeneous group of disorders. Pediatr Pathol 28:500-509, 1998 5. Bridge JA, Sreekantaiah C, Mouron B, et al: Clonal chromosomal abnormalities in desmoid tumors. Cancer 69:430-436, 1992
6. Bastakis JG, Raslan W: Extra-abdominal desmoid fibromatosis. Ann Otol Rhinol Laryngol 103:331-334, 1994 7. Ramanathan RC, Thomas JM: Infantile (desmoid-type) fibromatosis of the parotid gland. J Laryngol Otol 111:669-670, 1997 8. Sato K, Kawana M, Nonomura N, et al: Desmoid-type infantile fibromatosis in the mandible: A case report. Am J Otolaryngol 21:207212, 2000 9. Maillard AAJ, Kountakis SE: Pediatric sino-orbital desmoid fibromatosis. Ann Otol Rhinol Laryngol 105:463-466, 1996 10. Kiel KD, Suit HD: Radiation therapy in the treatment of aggressive fibromatoses (desmoid tumors). Cancer 54:2051-2055, 1984 11. Lackner H, Urban C, Corbel R, et al: Noncytotoxic drug therapy in children with unresectable desmoid tumors. Cancer 80:334-340, 1996
Infantile fibromatosis is a rare entity in children. Although the cervical region is one of the frequent sites of location for this tumor, the diagnosis may be delayed if it occurs in a usual location for a well-known entity, such as muscular torticollis or fibromatosis colli. The authors present an infant with infantile desmoid fibromatosis of the sternocleidomas-
toid muscle, which has been considered initially as olive of muscular torticollis. J Pediatr Surg 39:1424-1425. © 2004 Elsevier Inc. All rights reserved.
P
ROLIFERATIVE DISORDERS of the fibrous tissue exhibit a wide spectrum of histologic and morphologic variations in childhood. Fibromatoses are considered in the benign part of fibrous tumors and are classified into infantile fibromatosis (IF), fibromatosis colli, aggressive fibromatosis, fibrous hamartoma of infancy, infantile digital fibromatosis, myofibroma, juvenile hyaline fibromatosis, juvenile angiofibroma, Dupuytren’s fibromatosis, and juvenile aponeurotic fibroma.1-3 Herein, we report on an infant presenting with a sternocleidomastoid (SCM) tumor, which had been diagnosed initially as fibromatosis colli or olive of muscular torticollis, but later proved to be a desmoid type IF of the SCM muscle.
At operation, a hard, irregular, fixed tumoral mass in the SCM muscle was found, and only partial excision could be performed because of infiltration of the adjacent structures. Histopathologic examination showed that the tumor was composed of spindle-shaped cells of fibroblast origin and dense collagenous fibers, which were consisted with infantile desmoid fibromatosis. Lymph nodes were reactive. The tumoral tissue showed no staining for estrogen receptors in immunohistochemical study. The family refused chemotherapy. Reoperation was necessitated because of rapid growth of the tumor 6 months after the first operation. At the second procedure, the tumoral mass was 5 ⫻ 6 cm in size and densely adhered to the surrounding tissues. Under these circumstances, it was considered as unresectable. The new biopsy results were identical to the previous one on histopathologic examination. The patient is still under follow-up. The tumor is slowly growing, restricting neck movements and leading to a fixed position of the head during the next 2 years.
CASE REPORT
DISCUSSION
A 4-month-old boy was admitted to the hospital with the complaint of cervical swelling, which had been noticed 2 weeks before. He was full-term baby and born to a healthy woman after a noncomplicated pregnancy by spontaneous vaginal delivery. Birth weight was 4,050 g. Physical examination found a hard mass of 1.5 ⫻ 1.5 cm in the right cervical region. Rotation to the ipsilateral site and lateral flexion to the contralateral site of the head was restricted, and it was presumably considered as muscular torticollis also known as fibromatosis colli. The mass was found enlarged 6 weeks later at control examination in spite of intensive program of passive stretching exercises. Neck ultrasonography showed a 4- ⫻ 3-cm, solid heterogeneous mass in the SCM muscle. Computerized tomography (CT) of the neck showed a thickened (3.5 cm) SCM muscle with associated cervical lymph nodes of which the largest was 1.5 cm in diameter (Fig 1). Parotid and submandibular glands were displaced anteriorly by the mass and were normal in density. Cervical vascular structures also were found to be normal.
Fibromatosis colli is a self-limiting disorder that is characterized by an SCM tumor. It usually appears in the first few weeks of life and can grow rapidly and result in torticollis. It usually disappears within the first year of life without necessitating surgical intervention.1,4 Although its clinical features are typical, differential diagnosis includes vertebral anomalies, disorders of ocular muscles, Sandifer’s syndrome and superficial and deep cervical infections that can cause torticollis. The current case has been initially diagnosed as a classical tumoral swelling that is encountered in muscular torticollis or fibromatosis colli. However, rapid growth of the tumor and increased thickening of SCM muscle raised the possibility of another tumor, such as rhabdomyosarcoma, or a tumor originating from out of the muscle but infiltrating the surrounding structures, such as neuroblastoma. IF or infantile myofibromatosis is a rare tumor that may originate from muscles, aponeurotic tissues, and even periosteum of the head and neck region. More rarely, it may originate from muscles of the upper extremities. IF may be solitary or multiple. It usually
From the Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey. Address reprint requests to I˙brahim Karnak, MD, Hacettepe University Faculty of Medicine, Department of Pediatric Surgery, 06100 Ankara, Turkey. © 2004 Elsevier Inc. All rights reserved. 0022-3468/04/3909-0025$30.00/0 doi:10.1016/j.jpedsurg.2004.05.022 1424
INDEX WORDS: Desmoid, infantile fibromatosis, torticollis.
Journal of Pediatric Surgery, Vol 39, No 9 (September), 2004: pp 1424-1425
FIBROMATOSIS OF STERNOCLEIDOMASTOID MUSCLE
1425
Fig 1. CT of the neck shows solid tumoral mass located in the sternocleidomastoid muscle.
occurs in the first years of life with a slight predominance in boys. Although trauma has been suggested to play in its histogenesis, the exact cause is not yet known. Additionally, clonal chromosomal abnormalities may play a role in its genesis.5 Although IF has benign histologic features, it is not encapsulated, it is locally aggressive, and it can invade
adjacent structures. It usually is a fixed tumor, and total resection often is impossible, as encountered in our case. The treatment of IF is mainly surgical. Complete resection with safe margins is the best therapeutic approach. However, total excision may not be possible because of the local invasive nature of the tumor, and sometimes vital structures may not give the opportunity for total excision. Overall recurrence rate after excision of IF is reported to be 50%, and recurrence is more frequent, especially in head and neck location (60 to 70%).6 Radiotherapy and chemotherapy are reserved for unresectable IF.7,8 Adverse effects of radiotherapy such as tissue atrophy, hypopituitarism, growth disturbance of facial bones, and secondary carcinomas limit its use in infants.9,10 Chemotherapy has also been attempted in selected cases. Tamoxifen is an antiestrogen agent that may be used in estrogen receptor–positive IF. It has been recommended as a nonaggressive alternative to radiotherapy and chemotherapy for unresectable tumors.11 Estrogen receptors were negative, and this mode of therapy could not be used in current case. IF is a rare fibromatosis tumor proliferation of fibroblastic and myofibroblastic cells. It should be included in the list of pathologies that should be considered in the differential diagnosis of torticollis.
REFERENCES 1. Vacanti JP, Cusick RA: Tumors of the soft tissues, in O’Neill JAJr, Rowe MI, Grosfeld JL (eds): Pediatric Surgery. St Louis, MO, Mosby, 1998, pp 1911-1924 2. Schmidt D, Harms D: Fibromatosis of infancy and childhood. Histology, ultrastructure and clinicopathologic correlation. Z Kinderchir 40:40-46, 1985 3. Vos A: Rare tumors, in Carachi R, Azmy A, Grosfeld JL (eds): The Surgery of Childhood Tumors. London, England, Arnold, 1999, pp 381-402 4. Eich GF, Hoeffel JC, Tschappeler H, et al: Fibrous tumors in children: Imaging features of a heterogeneous group of disorders. Pediatr Pathol 28:500-509, 1998 5. Bridge JA, Sreekantaiah C, Mouron B, et al: Clonal chromosomal abnormalities in desmoid tumors. Cancer 69:430-436, 1992
6. Bastakis JG, Raslan W: Extra-abdominal desmoid fibromatosis. Ann Otol Rhinol Laryngol 103:331-334, 1994 7. Ramanathan RC, Thomas JM: Infantile (desmoid-type) fibromatosis of the parotid gland. J Laryngol Otol 111:669-670, 1997 8. Sato K, Kawana M, Nonomura N, et al: Desmoid-type infantile fibromatosis in the mandible: A case report. Am J Otolaryngol 21:207212, 2000 9. Maillard AAJ, Kountakis SE: Pediatric sino-orbital desmoid fibromatosis. Ann Otol Rhinol Laryngol 105:463-466, 1996 10. Kiel KD, Suit HD: Radiation therapy in the treatment of aggressive fibromatoses (desmoid tumors). Cancer 54:2051-2055, 1984 11. Lackner H, Urban C, Corbel R, et al: Noncytotoxic drug therapy in children with unresectable desmoid tumors. Cancer 80:334-340, 1996