FC 1-8 Analysis of vascularity and blood vessel changes of cutaneous neurofibromas

( Bo Young Kim ),( Ji Hyun Park ),( Seung Hyun Chun ),( Ji Min Lee ),( Hwa Jung Ryu ),( Il-hwan Kim ) 대한피부과학회 2016 대한피부과학회 학술발표대회집 Vol.68 No.2

Background: Neurofibroma is common benign soft-tissue tumor and have tendency to bleed upon surgery which is poorly understood. Herein we investigated whether this finding may result from alterations of vascularity and neurofibroma-associated arterial dysplasia. Objectives: This study aims to evaluate the vascularity of neurofibroma comparisons with other soft tissue tumor and correlation between vascularity and the size of neurofibroma and increased vascular fragility of dysplastic vessels associated with the neurofibroma. Methods: Forty nine cases (Thirty one neurofibroma and eighteen dermatofibroma) surgically treated between August 2014 and August 2016 at the Korea University Ansan Hospital served as the subject of this study. Vessel densities (vascularity) were quantified morphometrically. Dysplastic vessel was confirmed with immunohistochemical staining with antibodies to S100 protein and smooth- muscle actin. Results: Vascularity was significantly higher in neurofibroma than in dermatofibroma. Among the fibroma, there was a statistically significant increase in vascularization with an increase in tumor size (P=0.003). Especially, immunohistochemical investigation identified a large sized (>5cm) neurofibroma with associated dysplastic vessel. Conclusion: The source of prolonged and intense bleeding of large sized neurofibroma during surgical procedures can be explained by increased vessel density dependent the size of tumor and alterations in the structure of the vascular wall.

Use of Calretinin, CD56, and CD34 for Differential Diagnosis of Schwannoma and Neurofibroma

박지영,박훈,박남조,박준식,성현정,이상숙 대한병리학회 2011 Journal of Pathology and Translational Medicine Vol.45 No.1

Background: It is important to differentiate between schwannomas and neurofibromas for the cases in which the histopathologic features overlap. Depending on the tumor type, surgeons can decide on a treatment method and whether to preserve or sacrifice the nerve; the possibility of malignant transformation in the case of neurofibromas also needs to be considered. Methods: We studied 101 cases of schwannoma and 103 cases of neurofibroma. All the hematoxylin and eosin slides for these cases were reviewed, and tissue microarrays were prepared from the representative areas. Immunohistochemical analysis was performed using antibodies for S-100 protein, calretinin, CD56 and CD34. Results: All the tumors except 3 neurofibromas were positive for the S-100 protein. Calretinin was found in 26.7% of the schwannomas (27/101), but it was not found in any of the neurofibromas. CD56 was positive in 77.2% of the schwannomas (78/101) and in 9.8% of the neurofibromas (10/102). CD34 was positive in 42.5% of the schwannomas (43/101) and in 80.2% of the neurofibromas (81/101). Statistically, calretinin was significantly specific for schwannomas (p<0.001) and CD56 was also sensitive for these tumors (p<0.001). On the other hand, a CD34 expression seemed highly sensitive (p<0.001) for neurofibromas. Conclusions: We concluded that combined immunohistochemical analysis for calretinin, CD56, and CD34 may be very useful for differentiating schwannomas from neurofibromas.

A case of pigmented neurofibroma

( Seung Pil Ham ),( Ho Yeol Lee ),( Cheong Ha Woo ),( Sik Haw ),( Mira Choi ),( Hai Jin Park ) 대한피부과학회 2016 대한피부과학회 학술발표대회집 Vol.68 No.1

Pigmented neurofibroma, also known as melanotic neurofibroma, is rare, which accounts less than 1% of all neurofibromas. Histopathologically, pigmented neurofibroma is characterized by existence of melanin-laden cells and benign spindle cells with neural differentiation. The tumor has described as having association with neurofibromatosis. We describe a case of 20-year-old male neurofibromatosis patient with pigmented neurofibroma on his right forearm. He had a large, soft, subcutaneous, 5X3.2X0.8cm sized mass on his right forearm. He was known to have a type 1 neurofibromatosis. Histopathologically, the mass consisted of spindle cells with wavy nuclei in a myxocollagenous matrix and scattered spindled or epithelioid cells with dark-brown pigments within the cytoplasm. The pigmented cells were highlighted with HMB-45 and negative with iron stain. Based on clinical and histological findings, the lesion was diagnosed as a pigmented neurofibroma.

Solitary subungual neurofibroma misdiagnosed as dermatofibrosarcoma protuberans: a case report

( Da-ae Yu ),( Je-ho Mun ) 대한피부과학회 2019 대한피부과학회 학술발표대회집 Vol.71 No.1

Neurofibroma is a benign nerve-sheath tumor and occurs as a solitary lesion or as a part of neurofibromatosis. Solitary neurofibroma in the subungual area is rare. Only 11 cases have been reported in the literature. A 34-year-old female patient was referred from a local hospital to us for wide surgical excision of a subungual mass. She reported that she had the painless, slowly growing, subungual mass of the right first finger with nail deformity since her childhood. Simple excision was performed at the Department of Orthopedic Surgery. The pathologic report from the hospital showed a diagnosis of dermatofibrosarcoma protuberans with positive staining for CD34. Before making a decision for further surgical treatment, we performed additional immunohistochemical staining. Histopathology showed spindle cell proliferative lesion. Immunohistochemistry was focal positive for CD34, positive for S-100, and negative for EMA, SMA, and ALK. Ki-67 was expressed in 2%. According to these findings, our final diagnosis was subungual neurofibroma. MRI imaging revealed no definite evidence of residual tumor. After 6 months of follow-up, there has been no sign of recurrence. Herein, we report a rare case of solitary subungual neurofibroma initially diagnosed as dermatofibrosarcoma protuberans. Histopathology and immunohistochemistry are the important keys to rule out other spindle cell tumors and to avoid aggressive surgery for subungual neurofibroma.

폐쇄성 수면 무호흡으로 발현한 후두 신경섬유종 1례

김주현,고훈,서주희,김형영,유진호,홍수종 대한 소아알레르기 호흡기학회 2011 Allergy Asthma & Respiratory Disease Vol.21 No.2

Most patients with neurofibromas suffer from neurofibromatosis type 1 (von Recklinghausen’s disease), which is characterized by café-au-lait spots and cutaneous neurofibromas. Neurofibromas in the laryngeal area are extremely rare. Most patients with a laryngeal neurofibroma present with dyspnea, dysphagia, stridor, or hoarseness, depending on the location and size of the tumor. We present a case of a laryngeal neurofibroma in a boy with neurofibromatosis type 1. A 30-month-old boy with neurofibromatosis presented to our hospital with respiratory difficulty and obstructive sleep apnea. Magnetic resonance imaging demonstrated a round mass over the left carotid space, and its location made surgical resection impossible. Hence, tracheostomy was performed to maintain airway patency. The patient’s symptoms improved after tracheostomy. Long-term follow-up is essential owing to the possibility of recurrence. The patient has thus far shown no obstructive airway symptoms for one year after closure of the tracheostomy. 후두의 신경섬유종은 매우 드문 것으로 알려져 있으며, 대부분 상기도 폐쇄 증상으로 발현된다. 저자들은 수면 시 무호흡과 호흡곤란을 주소로 내원한 30개월 환자에서 후두 폐색을 유발하는 종괴를 확인하였으며 다수의 담갈색 반점과 신경섬유종증의 가족력을 근거로 신경섬유종으로 진단하였다. 병변의 위치상 수술적 절제술은 시행하지 않고 기관절개술을 통해 증상이 호전된 증례를 경험하였기에 보고하는 바이다.

엄지손톱 아래 발생한 단일성 점액성 신경섬유종

서보미,임진수,정성노,유결,변준희 대한성형외과학회 2011 Archives of Plastic Surgery Vol.38 No.4

Purpose: Subungual tumors are a common cause of nail plate deformity, and may be caused by fibrokeratoma, Koene’s tumor and glomus tumors. Neurofibromas, either as part of neurofibromatosis or as a solitary tumor are exceptionally rare in the digits. Methods: A 44-year-old man presented with painless onychodystrophy and nail plate elevation of the right thumb due to a small subungual mass that had started growing 3 years ago. Sensory evaluation of the distal phalanx was normal, and no discoloration nor infection signs were seen. The nail plate was extracted under local anesthesia, and the mass was delicately removed without injury to the nail bed. The nail matrix was repaired with primary closure. Results: Histopathology shows a well circumscribed, cellular tumor with myxoid stroma. Tumor cells were S-100 protein positive, and the patient was diagnosed with myxoid neurofibroma. There has been no sign of recurrence to date, 14 months after the operation. Conclusion: Presentation of cutaneous neurofibromas in the digits is an uncommon finding. They may occur as a manifestation of neurofibromatosis or as a solitary tumor. Subungual neurofibromas are exceptionally rare. To our knowledge, there are only ten reports of solitary subungual neurofibroma unrelated to neurofibromatosis to date. We report a rare case of solitary subungual myxoid neurofibroma of the thumb, that was treated through total excision, with preservation of the nail matrix.

아래눈꺼풀에서 발생한 단독 색소 얼기신경섬유종 1예

윤현정(Hyeon Jeong Yoon),윤경철(Kyung Chul Yoon),김가언(Ga Eon Kim),최 원(Won Choi) 대한안과학회 2017 대한안과학회지 Vol.58 No.3

목적: 저자들은 전신적인 신경섬유종증 없이 눈꺼풀에 단독으로 발생한 얼기 색소성 신경섬유종 1예를 경험하였기에 이를 보고하고자 한다. 증례요약: 출생 직후부터 발견한 우측 아래눈꺼풀 피하의 비교적 경계가 명확한 무통성 종괴를 주소로 12세 남자 환아가 수술적 치료를 원하여 내원하였다. 과거력 상 바터 증후군, 주의력결핍 과잉행동장애로 진단받고 치료 중이었다. 내원 시 시행한 이학적 검사상리쉬소결절, 시신경아교종, 고도근시 등 신경섬유종증에서 나타나는 소견은 보이지 않았다. 병변에 대해 절제생검술을 시행하였으며, 육안소견상 4.0 × 1.5 × 1.5 cm 크기의 불규칙한 모양의 결절이었다. Hematoxylin & eosin 염색상 점액기질을 동반한 다양한 크기의 비후된 신경 다발이 있었으며 증식된 멜라닌세포가 그 주위를 감싸고 있었다. 면역조직화학염색에서 neurofilament, melan-A, HMB-45 (Melanoma marker antibody)에 양성을 보여 얼기 색소성 신경섬유종으로 판명되었다. 피부과에서 시행한 이학적 검사, 뇌자기공명영상촬영 및 유전자 검사에서 전신적인 신경섬유종증의 증거는 없었다. 결론: 신경섬유종증으로 진단된 과거력 및 임상적 소견이 없더라도 눈꺼풀 종물의 감별 진단 시 얼기 색소성 신경섬유종을 고려해야하며, 절제술에 의해 성공적으로 치료될 수 있다. Purpose: Solitary plexiform neurofibroma of the eyelid without neurofibromatosis is a rare disease. We report a case of solitary plexiform pigmented neurofibroma of the eyelid without neurofibromatosis. Case summary: A 12-year-old male visited our clinic with a painless palpable subcutaneous mass on the right lower eyelid. He had a history of Batter syndrome and attention deficit hyperactivity disorder. On initial presentation, clinical features regarding neurofibromatosis such as Lisch nodule, optic nerve glioma, or high myopia were not observed. We performed excision and biopsy of the lower lid mass under general anesthesia. Macroscopically, the tumor was 4.0 x 1.5 x 1.5 cm in size with irregular nodules. Microscopically, the tumor consisted of multiple, variably sized tortous enlarged nerve fascicles with clusters of pigmented cells. Immunohistochemical results revealed expression of S-100 protein. Pigmented cells express both S-100 and melan- A proteins, while nonpigmented cells express S-100 protein only. The tumor was finally diagnosed as plexiform pigmented neurofibroma. Dermatological evaluation revealed no evidence of systemic neurofibromatosis. Conclusions: Plexiform neurofibroma should be considered in the differential diagnosis of an eyelid mass, even if the patient does not have a history or clinical features of neurofibromatosis. Plexiform neurofibroma can be successfully managed with surgical excision.

A case of pigmented giant neurofibroma with no association to neurofibromatosis

( Chan Hee Nam ),( Minkee Park ),( Mi Soo Choi ),( Ji Seok Kim ),( Byung Cheol Park ),( Seung Phil Hong ),( Myunghwa Kim ) 대한피부과학회 2015 대한피부과학회 학술발표대회집 Vol.67 No.1

Pigmented neurofibroma is a rare variant of neurofibroma with melanin-laden pigmented cells as they account for less than 1% of all neurofibromas. Pigmented neurofibroma is characterized histologically by the coexistence of scattered melanin-laden cells and benign spindle cells with neural differentiation. It has been observed in patients with or without neurofibromatosis. A 18-year-old man presented with a gradually increasing, huge, non-tender mass with brown hyperpigmented patch on the right mandibular area extended from Rt.infraorbital area. On physical examination, there wereno other stigmata of neurofibromatosis complex, such as cafe au lait macule, axillary freckles, Lisch nodules, optic glioma, dysplastic lesions of bones or a first degree relative with neurofibromatosis I. Using magnetic resonance imaging, 8.5 x 6.0 x 2.5 cm enhancing mass at right cheek was revealed from infraorbital to mandible confined to the superficial layer. A biopsy specimen of the tumor revealed that the epidermis showed increased melanin pigmentation and slender wavy spindle cells and pigmented cells were distributed diffusely within the deep dermis. The spindle cells with oval to S-shaped nuclei associated with nerve bundles. Immunohistochemically, the spindle cells were positive for CD34, S-100 protein and Mart-1. We described a case of an unusually huge pigmented neurofibroma with no association to neurofibromatosis.

[P215] Giant plexiform neurofibroma of the perineum and pelvis manifesting as segmental neurofibromatosis

( Myeong Jin Park ),( Ki Hyun Sung ),( Minkee Park ),( Mi Soo Choi ),( Seung Phil Hong ),( Byung Cheol Park ),( Myung Hwa Kim ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.1

Segmental neurofibromatosis(SN) is rare form of neurofibromatosis characterized that cutaneous or neural changes are limited to one region of the body. SN presents neurofibromas and less frequently, cafe-au lait spots. SN seems to have fewer systemic complications than neurofibromatosis type I or II, except patients with plexiform neurofibromas. Plexiform neurofibromas(PNFs) are rare benign peripheral nerve sheath tumors. PNFs can easily become aggressive growth particularly during puberty or pregnancy and leading to disfigurement and functional impairment. It is important to decide appropriate treatment modalities and time to intervention. A 7 year old girl presented with asymptomatic skin colored grouped papule and nodules and cafe au lait spots on Lt. vulva and perineum. On MRI, it showed extensive multifocal nodular lesion in Lt. pelvic cavity. Histopathologic examination of vulva showed that well defined nodules are surrounded with perineurium and there are diffuse spindle cells and schwann cell fascicles. Endoneurial mucocytes are loosely spaced. Based on these characteristic clinical findings and histopathologic features, the patient was diagnosed with segmental neurofibromatosis with plexiform intraneural neurofibroma mucinous endoneurial type. Herein, we report a case of a giant plexiform neurofibroma of the perineum and pelvis manifesting as segmental neurofibromatosis.

A Case Report of endotracheal Neurofibroma treated by repetitive flexible bronchoscopic cryotherapy

( Ji Soo Yoo ),( So Ri Kim ),( Yeong Hoon Choe ),( Yong Chul Lee ),( Seoung Yong Park ),( Jae Seok Jeong ) 대한결핵 및 호흡기학회 2018 대한결핵 및 호흡기학회 추계학술대회 초록집 Vol.126 No.-

Isolated endotracheal neurofibroma is a very rare disease. The majority of neurofibroma is benign, and rarely, it can become cancerous. Besides, symptomatic neurofibroma is usually treated by surgical resection. Nowadays, several alternative options for surgical resection of the airway pathologies have been suggested and developed including bronchoscopic cryotherapy. However, there is no report of the application of the repetitive flexible bronchoscopic cryotherapy to remove endotracheal neurofibroma. Herein, we introduce a 65 years old female patient with symptomatic endotracheal neurofibroma successfully treated with the repetitive flexible bronchoscopic cryotherapy.