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Intraocular myofibroblastoma in an infant: a case report
© Hua et al. 2015
Received: 10 March 2015
Accepted: 20 July 2015
Published: 25 August 2015
Myofibroblastoma is a benign tumor composed of spindle cells and bands of hyalinized collagen. Intraocular myofibroblastoma in infancy is rarely encountered.
The present study reports the case of a 4-month-old female baby with intraocular myofibroblastoma. She was suspected as corneal perforation due to the rupture of a corneal neoplasm in the right eye. The anterior segment was also involved according to the Color Doppler ultrasonography. A surgical exploration was performed and the protuberant part of the mass was resected. Conventional HE staining showed numerous spindle-shaped cells with bands of collagen beneath multilayers of well-differentiated corneal epithelia. Immunohistochemical staining demonstrated the tumor cells were strong positive for vimentin and smooth muscle actin, while negative for S-100 protein. The mass was confirmed as myofibroblastoma. After 12 month follow-up, there was no apparent growth of the tumor.
Myofibroblastoma is a very rare type of intraocular neoplasm, which may have complicated manifestation and could be misdiagnosed as dermoid or Peter’s anomaly. Histopathological and immunohistochemical staining is crucial to form a precise diagnosis.
KeywordsIntraocular neoplasm Myofibroblastoma Infancy
Myofibroblastoma is a benign mesenchymal neoplasm composed of spindle-shaped cells as well as interspersed bands of hyalinized collagen . Histopathological and immunohistochemical staining is important to differentiate it from other mesenchymal tumors [2–6]. Although the majority involvement of the mass is the breast, extramammary myofibroblastoma was also reported in different organs [2, 3, 6]. However, only one case of orbital and ocular myofibroblastoma was diagnosed for an adult recently . In this study we described a 4-month-old female infant with an intraocular neoplasm in the right eye. By means of Histopathological and immunohistochemical staining, it was confirmed as a rare myofibroblastoma. To the best of our knowledge, this is the first study to show the presence of myofibroblastoma in the right eyeball in infancy.
The infant was the second child delivered normally by the mother at full term. General physical examination of the infant revealed no other noticeable abnormality. However, the mother had a history of repeated upper respiratory tract infection during the pregnancy.
Tobramycin eye drops were used four times a day to prevent infection in the right eye of the infant after admission. The corneal neoplasm in the right eye turned red on the next day (Fig. 1b); however, the volume of the lesion was apparently unchanged. The infant calmed down, and the symptoms of eyelid irritation disappeared. Initially, the baby was suspected to be suffering from corneal perforation, Peters’ abnormality, and congenital glaucoma. A surgical exploration on the right eye was performed under general anesthesia on day 4 after admission. During the operation, a red, firm, solid mass with dilated small vessels was found on the surface (Fig. 1c). No weakening or perforation was observed in the cornea. The protuberant part of the mass was excised, revealing the wound with a boundary that clearly differentiated it from the surrounding corneal tissues. The residual mass had a spiral-shaped presentation, while no distinct pigment tissue was found (Fig. 1d). Anterior chamber paracentesis was performed at 11 o'clock position of the limbus, and only a little aqueous fluid flowed out. Considering the possibility of pupillary block caused by anterior synechia, peripheral iridotomy was also performed. TobraDex eye ointment was applied to the eye, followed by eye patching. The mass was sent for pathological examination postoperatively.
Myofibroblastoma is a benign mesenchymal neoplasm composed of spindle-shaped cells in clusters and fascicles, as well as interspersed bands of hyalinized collagen. Myofibroblastoma was initially reported in the breast of a male patient by Tokeret et al. in 1981, and since then, it has also been identified in other parts of the body [1–3]. Histologically, myofibroblastoma consists of proliferated spindle cells that are arranged irregularly or in bunches, with relatively bulky collagen fibers among them. These spindle-shaped cells are mainly eosinophilic, with moderate amount of cytoplasm and fusiform nuclei. Immunohistochemical staining revealed that the tumor cells were differentiated into fibroblastic and myofibroblastic, which are strongly positive for vimentin and SMA, and weakly positive for desmin and CD34 [4–6].
Ocular myofibroblastoma is a very rare condition, and to the best of our knowledge, no case in children or infants has yet been reported. Recently, Costin et al.  reported a case of myofibroblastoma in an adult female, with orbital and intraocular involvement. The infant in the present case had an intraocular myofibroblastoma since birth. Doppler ultrasonography on admission showed that the tumor was located in front of the crystalline lens, protruded from the cornea, and connected with the iris tissues, while the structures of the retina and vitreous body were still clear and unaffected. Histopathological examination of the partially excised lesions revealed numerous long, spindle- or bean-shaped tumor cells that proliferated subepithelially, with small amounts of collagen fibers and blood vessels. The nuclei were oval or fusiform and no obvious atypia was observed. Immunohistochemical staining showed that vimentin and SMA were positively expressed in these tumor cells, while desmin was only partially expressed; in contrast, no sign of S-100 or CD34 protein expression was found in these spindle-shaped tumor cells. Histopathological and immunohistochemical examinations revealed that this tumor satisfied the pathological diagnostic criteria of myofibroblastoma. Brown pigment particles were also found scattered among the tumor cells, suggesting that the corneal mass had the same differential origin as the iris.
The corneal mass in this infant was observed immediately after birth; its initial presentation was a pink raised uplifted neoplasm in the central cornea, which was similar to a corneal dermoid. Epibulbar dermoid is congenital overgrowth of collagenous connective tissue covered by epidermoid epithelium in an abnormal location, including bulbar conjunctiva, limbus, cornea, and/or caruncles. Both the central cornea and the peripheral cornea may be involved. Occasionally hair follicles, sebaceous and sweat glands, or adipose tissues could be found insides . However, the tumor in this infant mainly consisted of large amounts of spindle-shaped cells, while no cutaneous appendage was found. So that a corneal dermoid could be excluded.
The corneal mass of the infant ruptured and turned black before admission, which could have easily been misdiagnosed as corneal perforation. Spontaneous corneal perforation rarely occurs in infants. It could be associated with systemic diseases such as infectious endophthalmitis, keratitis, or Peter’s anomaly [9, 10]. The cornea of the infant in the present case showed no obvious ulcer, the vitreous cavity was clear, and the infant was healthy without obvious inflammatory diseases. Therefore, corneal perforation caused by endophthalmitis or keratitis should not be considered. To the best of our knowledge, thus far, only 4 cases of spontaneous corneal perforation accompanied by Peter’s anomaly in infants have been reported . Peter’s anomaly is characterized by the absence of posterior corneal stroma and Descemet’s membrane with iris and/or crystalline lens adhesions that are induced by genetic or environmental factors. Opacity in the central or peripheral cornea usually exists at birth; most of the patients have a flat anterior chamber, and some of the cases, Peter’s anomaly could also be accompanied by glaucoma . In the present case, iridocorneal adhesion was apparent in the affected eye of the infant, the corneal lesion was black and hemisphere-shaped, and the infant’s symptoms included lacrimation, photophobia, and blepharospasm. Hence, this condition could also have been easily misdiagnosed as Peter’s anomaly accompanied by corneal perforation. However, the image of color Doppler ultrasonography and MRI demonstrated a apparent mass inside the anterior chamber, which give a hint to differentiate from Peter’s anomaly either.
The clinical presentations of the condition in the present case and the results of color Doppler ultrasonography and MRI showed that the tumor was closely associated with the iris, suggesting that they may have had the same origin in the embryonic stage. The progressive forward growth of the mass eventually affected the differentiation of normal corneal tissues, caused a defect of the central corneal stroma, and finally resulted in a dome-shaped mass on the cornea. We also observed several brown pigment particles scattered among the tumor cells, which also strongly indicated that the corneal tumor could have originated from the iris. As the diameter of the affected cornea was much larger than that of the fellow eye, and since the central anterior synechia was also significant, secondary glaucoma due to pupillary block should have been considered. Peripheral iridectomy was performed to drain the aqueous fluid to the anterior chamber. At the 12-month follow-up, no increase in the corneal diameter of the affected eye was observed, and the intraocular pressure was normal. In addition, color Doppler ultrasonography was performed 3 times, which further confirmed that the lesion was well restricted and that the tumor showed no evident growth.
On the other hand, considering visual rehabilitation of the affected eye, penetrating keratoplasty may be hopefully effective if the tumor keeps stable with the time going. However, corneal transplantation in children is extremely complicated and there is a high risk of graft failures in the younger age group due to the lower rigidity of sclera and cornea, much severe inflammation and more active immune system [13–15]. Furthermore, thoroughly removal of the tumor may even accompany lensectomy or vitrectomy. These additional surgeries might augment the risk for irreversible graft rejection either . Considering all above, we still keep on following to observe the further changes of this rare intraocular tumor and wait for the optimum time to perform operations for improvement of vision.
Ocular myofibroblastoma is very rare up to our knowledge, especially in infancy. This case was involving anterior chamber and complicated with secondary glaucoma. Its manifestation should be differentiated from corneal dermoid and Peter’s anomaly. The HE and Immunohistochemical staining as well as the images of Color Doppler ultrasonography were vital to give a precise diagnosis.
Written informed consent was obtained from the parents of the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.
The authors thank the patient and her parents who generously agreed to participate in this report. The authors also thank Dr. Qi and Dr. Ning for interaction with the patient as well as their excellent assistance in the draft of the manuscript. This work was supported by Foundation of Tianjin Municipal Education Commission (No.20120129).
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