Desmoplastic malignant melanoma presenting with orbital involvement

Desmoplastic malignant melanoma (DMM) is a rare variant of spindle cell melanoma. We report a case of DMM of the forehead secondarily involving the orbit. The diagnosis was based on light microscopic features, including prominent peripheral cell nest formation and spindle cell fascicles in densely collagenous stroma. Immunohistochemical studies showed strong uniform staining for S100 antigen throughout the tumour. It was negative for HMB 45, smooth muscle actin, desmin, cytokeratins and Type IV collagen. Electron microscopy showed neither melanosomes nor myelin figures. The clinical and histological characteristics of desmoplastic malignant melanoma, and its differential diagnosis of malignant schwannoma, are discussed. DMM has a poor prognosis, since it tends to invade deeply, recur locally and metastasise readily.     

Intraocular malignant melanoma of the choroid presenting as orbital cellulitis

We report a case of choroidal melanoma with features suggestive of orbital cellulitis. A 24-year-old Asian Indian male presented with a 20-day history of sudden loss of vision in the right eye. Edematous eyelids with complete mechanical ptosis, complete ophthalmoplegia, gross proptosis accompanied by massive chemosis, and prolapse of the inferior forniceal conjunctiva were noted. He denied perception of light in the right eye. The left eye was unremarkable. B-scan ultrasonography of the right eye showed a large dome-shaped mass filling the posterior segment suggestive of choroidal melanoma. Computed tomography confirmed those findings and showed no extraocular tumor extension. The patient was conservatively treated with systemic steroids following which the inflammation subsided. He underwent enucleation of the right eye and a diagnosis of spindle A cell choroidal melanoma was confirmed by histopathological examination. Although rare, orbital cellulitis is one of the presenting features of choroidal melanoma. Uveal melanoma-associated orbital cellulitis can be well controlled with systemic steroids, does not always indicate extraocular tumor extension, and can occur in spindle A cell melanomas.     

脉络膜骨瘤误诊为脉络膜恶性黑色素瘤7例临床分析

目的：探讨脉络膜骨瘤与脉络膜恶性黑色素瘤临床检查的鉴别要点，防止误诊发生。 方法：对7例脉络膜骨瘤误诊为脉络膜恶性黑色素瘤患者的专科检查、B超、CT检查进行回顾性分析鉴别。 结果：我院白1995年以来共收治7例脉络膜骨瘤误诊为脉络膜恶性黑色素瘤患者，进行眼底、B超、CT检查，确诊为脉络膜骨瘤，均未行眼球摘除术，挽救了患者眼球。 结论：脉络膜骨瘤临床上易误诊为脉络膜恶性黑色素瘤，但通过眼底、B超、CT检查，综合分析是可以鉴别的。     

Small choroidal melanoma with massive extraocular extension: invasion through posterior scleral emissary channels

Massive orbital extension arising from a small posterior pole uveal melanoma is rare. A 75-year-old male followed for an asymptomatic choroidal nevus developed a two and a half month history of mild decrease in visual acuity. Upon clinical examination minimal enlargement of the tumor with surrounding serous retinal detachment was observed. Pre-operative magnetic resonance imaging disclosed massive extrascleral extension. Histopathology revealed that the tumor was composed of spindle B malignant melanoma cells. Multiple serial sections of the entire tumor area failed to demonstrate permeation through scleral lamellae. Instead, peripapillary perivascular short posterior ciliary vessel invasion was observed. This route of dissemination may explain the rapid growth and clinically undocumented behavior of small malignant melanomas at this location.     

The role of orbital exenteration in choroidal melanoma with extrascleral extension

The management of choroidal melanoma with extrascleral extension has been a subject of controversy with some proposing orbital exenteration whenever extrascleral extension is demonstrated and others feeling it to be of no value in increasing survival. We reviewed the cases of 43 patients with extrascleral extension of choroidal melanoma. Although five-year survival had previously been demonstrated to be significantly improved in patients undergoing early orbital exenteration at our institution, extended follow-up in 16 consecutive cases revealed ultimate tumor related mortality to approach that of patients refusing exenteration. Only in cases with nonencapsulated or surgically transected extension did exenteration appear to improve survival. In ten cases with delayed recurrence of tumor in the orbit, exenteration proved to be palliative rather than curative.     

眼外蔓延的脉络膜黑色素瘤的临床观察

目的 总结眼外蔓延的脉络膜黑色素瘤的诊断方法和治疗经验.方法 回顾性系列病例研究.收集12例经病理学确诊的眼外蔓延期脉络膜黑色素瘤患者临床资料,总结病史特点、临床表现及影像学征象、治疗与随访结果.结果 4例既往有误诊为青光眼的病史;4例既往确诊者,其中3例接受肿瘤局部切除术.常见体征包括:视力下降,眼球突出,上睑下垂,眼球运动受限,结膜充血,眼压或眶压升高等,特异性体征为巩膜表面隆起性肿物.眼B超检查6例,典型表现为眼球壁结构中断,眼内、外肿瘤连续,眼外肿瘤呈低回声,或呈中、低回声混杂.CT检查6例,表现为肌锥内团块状肿瘤与球内肿瘤相连续,边清,均质,包绕眼球或视神经生长.所有患者行MRI T1和T2加权像检查,球内、外的肿瘤有4种类型的信号特征,肿瘤在T1加权像呈高信号,T2加权像呈低信号为典型表现.球外肿瘤的最大直径超过4 mm者有9例.MRI检查可显示球外多灶蔓延及远处转移,且有助于显示微小的球外蔓延灶,最小直径3 mm.11例患者行眶内容物剜除术,1例行眼球及球外瘤体摘除术.病理学检查显示肿瘤以上皮细胞型最为多见,有3种向眼外蔓延的途径.有随访记录者8例,术后联合化疗、放疗或干扰素治疗,随访1～5年,6例无眼部复发,全身情况良好,1例死亡,1例转移.结论 脉络膜黑色素瘤发展至眼外蔓延期的主要原因可能是延误治疗,临床缺少特异表现,确诊多需结合多种影像学检查.手术联合辅助治疗有助于减少局部复发和全身转移.

Abstract：

Objective To evaluate the clinical features, diagnostic methods and treatment of extraocular extension of choroidal melanoma. Methods It was a retrospective case series study. The records of 12 consecutive cases with extraocular extension of choroidal melanoma confirmed by pathologic examination were analyzed with special attention to the case histories, clinical manifestations, imaging findings, treatment and follow up results. Results Four patients were misdiagnosed as glaucoma. Another 4 patients were confirmed the diagnosis of melanoma and 3 of them received the operations of transscleral local resection. The common clinical manifestations included: impaired vision, exophthalmos,blephroptosis, limited ocular motility, conjunctival hyperemia, and increased ocular or orbital pressure, etc.Characteristic sign was raised mass on the surface of sclera. All cases underwent orbital MRI preoperatively,6 underwent ocular B-scan echography, and 6 underwent orbital CT scanning to evaluate for extraocular extension of tumor. Typical ultrasonography revealed the discontinued ocular wall and an intraocular mass with a continuous hypoechoic extraocular mass. In some cases the extraocular mass showed hypoechoic with medium echo area. CT scan showed a well-defined homogeneous intraconal mass connecting with intraocular lesion in 6 cases, which could infiltrate eye or optic nerve. The MR signal features of intraocular tumors with extraocular extension showed 4 patterns in all patients. The typical pattern was the tumor showed hyperintensity on T1 and hypointensity on T2-weighted image. The maximum diameter of extraocular tumor was measured over 4 mm in 9 cases. MRI was useful for demonstrating multiple extraocular lesions, remote metastatic lesion or micro extraocular tumor, of which minimal diameter was 3 mm in our cases. Orbital exenteration was performed in 11 cases and ocular enucleation with excision of extraocular tumor was in 1 cases. Microscopic examination showed the epithelioid-cell-type tumors were the most common. The tumor extended out of the eye by three types of way in our cases. Follow-up ranged from 1 to 5 years in 8 cases,who underwent chemotherapy, radiotherapy or interferon. Six cases had no recurrences and general health.Death and metastasis was respectively recorded in one case. Conclusions Delayed treatment could induce the growth of choroidal melanoma to the stage of extraocular extension, which has few specific clinical manifestations. The combination of multiple imaging examinations was helpful for the correct diagnosis.Surgical operation with adjunctive therapies could partly reduce recurrence and metastasis of melanoma.     

Malignant melanoma of the rectum presenting as orbital metastasis

An orbital mass being the presenting sign of disseminated systemic metastasis is a rare clinical picture. Here, the authors describe the case of a 52-year old Asian-Indian female who presented with unilateral proptosis and motility restriction. Imaging showed an irregular orbital mass infiltrating the right lateral rectus and with a significant intraconal component. Incisional biopsy helped to diagnose a malignant melanoma and exhaustive systemic imaging showed that the primary was found to be arising from the rectum. This represents the first reported case of malignant melanoma of the rectum metastasizing to the orbit and presenting with proptosis and reduced vision.     

Recurrence and massive extraocular extension of choroidal malignant melanoma after vitrectomy and endoresection

Vitrectomy and endoresection is an alternative to enucleation for the treatment of large malignant choroidal melanoma. We report a rare case of extensive recurrence of choroidal malignant melanoma with extraocular extension 11 years after surgical endoresection without adjuvant treatment.     

Invasive malignant melanoma of the uvea,presenting with neovascular glaucoma and orbital cellulitis

A neglected demented patient was treated for neovascular glaucoma (NVG) and orbital cellulitis and was later given the diagnosis of uveal melanoma. Histologically, the tumor extensively infiltrated the sclera, causing massive scleral destruction and invasion of the orbit. Preliminary invasion of scleral emissaries was not identified. Investigative imaging is important early in the course of NVG in patients with opaque media, especially in the demented population. The authors have stated that they do not have a significant financial interest or other relationship with any product manufacturer or provider of services discussed in this article.     

Enucleation combined with orbital implants for malignant melanoma of the uvea

Advanced malignant melanomas of the uvea unsuited for an eye salvaging approach require enucleation of the tumor containing eye. A series of 68 patients is reported who underwent enucleation combined with insertion of a spherical dura-encased implant after 30 Gray pre-irridiation therapy of the orbit. Postoperative results with special attention to cosmetic outcome and motility of the prosthesis suggest that the insertion of an orbital implant should be preferred to the enucleation with no implant.     

Choroidal melanoma with extrascleral extension in an Australian Aboriginal man

Choroidal melanoma is a rare occurrence in pigmented races. Low clinical suspicion of choroidal melanoma may result in diagnostic delay. We present a rare case of choroidal melanoma with extrascleral orbital extension in an Australian Aboriginal man. We are unaware of previous reports of uveal melanoma in Aboriginal Australians and could find no reference to it in a computerized search utilizing Medline.     

原发性眼眶恶性黑色素瘤的临床特征（附3例报告）

目的 总结分析原发性眼眶恶性黑色素瘤的临床特征,并与国外已报道病例进行比较,使眼科医生加深对该罕见肿瘤的理解和认识。设计 回顾性病例系列。研究对象 2008年在北京同仁医院就诊的3例原发性眼眶恶性黑色素瘤患者。方法 回顾性分析上述3例患者的临床表现、影像学特点、组织病理学特征以及治疗和随诊情况,通过复习国外相关文献,比较我国患者与国外患者在临床特征方面的异同。主要指标 临床表现、磁共振成像（MRI）、病理学特征。结果 3例眼眶黑色素瘤患者中,主要临床症状均为不同程度且伴随不同症状的眼球突出。经过详细的全身检查,未发现原发于其他部位的黑色素瘤,排除转移性黑色素瘤的可能;眼睑、颜面部皮肤、结膜、巩膜等均无黑色素性病变,排除了先天性黒变病的病理基础。MRI检查显示：2例肿瘤均表现为短T1短T2信号,强化不明显,符合黑色素瘤的典型特征;1例肿瘤表现为主体呈短TI长T2不强化区,依据通常经验未能提示黑色素瘤。组织病理学检查显示：3例肿瘤均为恶性黑色素瘤,分别为上皮样细胞型、梭形细胞型、混合细胞型。其中1例肿瘤发生于眶内囊肿内壁的上皮组织,具有明确的囊膜上皮基础,据此推测,胚胎时期从神经嵴移行到囊壁上皮细胞间的黑色素细胞可能是原发性眶内黑色素瘤的组织学来源。治疗均采用单纯肿瘤切除术,术后1例患者未行任何辅助性放化疗,另2例患者分别行4个周期和7个周期化疗。随访40~48个月,3例患者均健在,无肿瘤复发和转移迹象。结论 MRI检查对于原发性眼眶恶性黑色素瘤术前诊断具有一定提示作用。附着于眼眶内囊肿上皮细胞间的黑色素细胞可能是该肿瘤的起源。由于肿瘤具有包膜,单纯肿瘤切除术治疗有效。     

Subconjunctival Dirofilariasis presenting as orbital cellulitis

Background:Dirofilariasis is an emerging zoonosis in India. Most of the cases from India have been reported from the states of Kerala, coastal Karnataka and Maharashtra, and a few from the North India, Orissa and Assam. Dogs, cats, foxes and other wild animals are definitive hosts for dirofilaria. Human ocular parasitosis is prevalent in geographical areas where environmental factors and poor sanitary conditions favor parasitism between humans and animals. However, in recent years, migrating population have facilitated the spread of certain parasitic diseases from endemic to non-endemic areas. We report a case of subconjunctival dirofilariasis in a 91-year-old man, who presented with features of orbital cellulitis. An intact live worm, measuring 13.5 cm, was extracted from the subconjunctival space, following which there was prompt resolution of symptoms.Purpose:Given the increase in the frequency of dirofilariasis in humans in recent years, medical practitioners should bear in mind the possibility of ocular dirofilariasis when a patient presents with an ocular or orbital inflammatory lesion.Synopsis:This video illustrates various presentations of ocular dirofilaria and surgical extraction of a live worm from the subconjunctival space.Highlights:Lifecycle and human ocular manifestations of dirofilaria ared elucidated. Rare presentation of subconjunctival dirofilariasis as orbital cellulitis and its resolution following removal of the live worm has been demonstrated.Video link: https://youtu.be/Nj8unz0S85M     

The slow electrooculogram oscillation in malignant choroidal melanoma

Electrooculographic recordings were performed in a series of patients with malignant choroidal melanoma. The amplitudes of the light peaks were reduced in all cases compared with the recordings of the normal fellow eyes. The amount of reduction of the light peaks appeared to be dependent on localization of the tumor. The electrooculograms of eyes with tumors of the posterior pole were found to be reduced significantly. Eyes with malignant melanomas located in the peripheral fundus displayed minor reductions.     

误诊为黑色素瘤的视网膜色素上皮细胞来源的腺癌1例

视网膜色素上皮细胞(RPE)形成的肿瘤较少,常见肿瘤类型有黑色素瘤,少见类型包括RPE形成的腺癌,这两种肿瘤在临床和病理特点上都有所不同。本文报道1例60岁的男性患者,因为进展性视力丧失,眼科诊断为黑色素瘤而行右眼摘除术。病理学检查发现后极部接近视神经处可见实性、界限清楚的病灶。组织学检查见构成肿瘤的细胞,具有大的多形、浓染的核,核仁突出,色素极少;肿瘤细胞多呈乳头状排列。为和黑色素瘤进行区别,进一步行免疫组织化学染色。结果显示上皮膜抗原(EMA)为强阳性,HMB45阴性,支持RPE来源的腺癌诊断。系统检查排除了转移癌。总之,虽然RPE来源的腺癌非常少见,但必须清楚它与脉络膜黑色素瘤在诊断上的异同点。     

Congenital uveal malignant melanoma: a case report

CASE REPORT: We present a case of congenital choroidal mass in a male infant with multiple cutaneous pigmented lesions. Enucleation performed in the first weeks of life confirmed the diagnosis of diffuse uveal malignant melanoma with extraocular extension. The patient was also treated with 5 cycles of chemotherapy. He subsequently developed cutaneous and ocular pigmented lesions, including 2 choroidal nevi located within the posterior pole and a benign conjunctival lesion in the opposite eye, in addition to malignant melanoma of the skin. COMMENTS: At 10 years follow-up, the child is clinically well with no evidence of further malignancy. We believe this represents the fourth case ever reported in the literature and the longest follow-up of a congenital malignant melanoma originating within the eye.     

Orbital inflammation in a patient with extrascleral spread of choroidal malignant melanoma

An elderly woman presented with fever, dehydration, orbital inflammation, total external and internal ophthalmoplegia and blindness, resembling the clinical appearance at presentation of severe orbital inflammatory disease or mucormycosis. Orbital computed tomography scanning demonstrated a retrobulbar orbital mass. Subsequent B-scan ultrasound examination confirmed the orbital mass but also demonstrated a mass within the eye. At lateral orbitotomy, extrascleral spread of an entirely necrotic intraocular melanoma was demonstrated. As computed tomography scanning may not be able to delineate an entirely necrotic intraocular malignant melanoma, B-scan ultrasonography should be considered in patients with orbital inflammation, especially in the presence of a retrobulbar mass.