신경섬유종증의 안과적 소견

방재순,양홍석,안재홍,국경훈,장윤희,Jaesoon Bang,Hong Seok Yang,Jae Hong Ahn,Kyoung Hoon Kook,Yoon-Hee Chang 대한안과학회 2008 대한안과학회지 Vol.49 No.11

Purpose: To report the ophthalmic manifestations of neurofibromatosis in Korea. Methods: Ophthalmologic examinations were performed from November 2001 to January 2008 for 153 consecutive patients who were diagnosed with neurofibromatosis according to the diagnostic criteria for neurofibromatosis. A retrospective analysis was performed according to the medical records of these 153 patients. Results: Seventy seven out of the 153 patients were men, 76 were women and the mean age was 20.44±14.34 years old. One hundred twelve were neurofibromatosis type 1 and six were neurofibromatosis type 2. Remained thirty five were segmental neurofibromatosis type 1. Ophthalmic manifestations of the neurofibromatosis type 1 were Lisch nodule (52.68%), high myopia (14.29%), plexiform neurofibroma in the orbit (4.46%), café au lait spots (4.46%) and optic glioma (3.58%). In the neurofibromatosis type 2, epiretinal membrane (33.33%) showed highest incidence and posterior subcapsular opacity (16.67%), Lisch nodule (16.67%), optic disc edema (16.67%), and optic nerve glioma (16.67%) were also noted. Lisch nodule (25.71%) was the most common ophthalmic finding in segmental neurofibromatosis type 1. Conclusions: Lisch nodule, which was the most common manifestation of the neurofibromatosis type 1, was less manifested in our cases compared to the previous reports of western countries. In the neurofibromatosis type 2, epiretinal membrane and posterior subcapsular cataract showed higher incidence than those of other types of neurofibromatosis. J Korean Ophthalmol Soc 2008;49(11):1829-1838

Late-onset segmental neurofibromatosis on the face

( Joon Won Huh ),( Ji Sook Yoo ),( Young In Jeong ),( Min Soo Kim ),( Kwang Hyun Choi ),( Hyang Joon Park ),( Mihn Sook Jue ) 대한피부과학회 2015 대한피부과학회 학술발표대회집 Vol.67 No.1

Segmental neurofibromatosis is a rare form of neurofibromatosis that is characterized by neurofibromas and/or cafe-au-lait macules, limited to one region of the body. The neurofibromas of segmental neurofibromatosis most commonly occupied either a cervical or thoracic dermatome, while the occurrence on the face is extremely rare and only 10 cases of segmental neurofibromatosis on the face have been described so far. A 71-year old man presented with multiple flesh-colored nodules on the right side of the forehead that had been present for 3 years. He was no family history of neurofibromatosis. Physical examination revealed soft, asymptomatic subcutaneous nodules in the distribution of the ophthalmic branch of the right trigeminal nerve (V1). No axillary freckling, cafe-au-lait macules, or other skin nodules elsewehere on the body were present. Histopathologic examination showed well-circumscribed, spindle-shaped cells in the myxoid stroma. Based on histologic and clinical findings, he was diagnosed as segmental neurofibromatosis on the V1 dermatome. Herein, we report a case of segmental neurofibromatosis on the V1 dermatome for its rarity and unusual location.

Segmental neurofibromatosis on the face

( Cho-ah Lim ),( Young Lee ),( Young-joon Seo ),( Jeung-hoon Lee ),( Kyung-duck Park ) 대한피부과학회 2018 대한피부과학회 학술발표대회집 Vol.70 No.1

Segmental neurofibromatosis(SN) is a rare form of neurofibromatosis that is characterized by cafe-au-lait macules and neurofibromas, or only neurofibromas in limited dermatome. SN is thought to arise from a postzygotic mutation in the NF1 gene leading to somatic mosaicism. A 34-year-old man presented asymptomatic, multiple, soft, skin colored papules on his right nasolabial fold with a 20-year history. Physical examination was normal including intelligence, speech, auditory functions and there was no cafe-au-lait macule on the rest of the body. He had no family history of neurofibromatosis. Histological examination showed non-capsulated intradermal tumor consisted of loosely spaced spindle-shaped cells and wavy collagenous strands in the myxoid stroma. Overall, the features were consistent with segmental neurofibromatosis. Patients with the segmental neurofibromatosis need to be assured that they have a low risk of developing any disease-related complications. Herein we report a rare case of segmental neurofibromatosis on the face.

Neurofibromatosis Type 2와 무관하게 발생된 척추 경막내 다발성 신경초종 - 증 례 보 고 -

김정태,성정남,박봉진,조맹기,김영준,Kim, Jung Tae,Sung, Jung Nam,Park, Bong Jin,Cho, Maeng Ki,Kim, Young Joon 대한신경외과학회 2000 Journal of Korean neurosurgical society Vol.29 No.4

Most extracranial schwannomas are solitary, but neurofibromas are frequently associated with other manietations of neurofibromatosis. Schwannomas that occur within the context of neurofibromatosis tend to be multiple, but multiple schwannomas without manifestation of neurofibromatosis type 2 are very rare. The authors report a very rare case of multiple spinal intradural schwannomas in the absence of neurofibromatosis Type 2 maniestations. A 40-year-old man suffered from longstanding low back pain and left side sciatica which was treated with two stage operations. MRI showed multiple intradural mass lesions extending from L1 vertebral segment to S1 vertebral segment. There were no clinical and radiological manifestations of Type 2 neurofibromatosis. Histologically confirmed diagnosis was schwannoma.

삼차신경절을 침범한 신경섬유종증의 치료

최희윤,이혁용,김영수,김선일,김정태 大韓成形外科學會 1999 Archives of Plastic Surgery Vol.26 No.2

Neurofibromatosis is a syndrome of multiple neurofibromas, abnormal skin pigmentation and certain bony abnormalities. Sometimes the growth of plexiform neurofibromatosis on the face or trunk is centripetal and usually involves the mediastinum and skull base. However, it is very rare that neurofibromatosis involves the trigeminal ganglion. Its encroachment around the foramina of the skull base may induce facial palsy or conductive hearing loss. The guiding principle in the treatment of generalized neurofibromatosis is a radical excision with preservation of vital structures and an immediate reconstruction of the bony skeleton and soft tissue defect. The authors experienced 4 cases of neurofibromatosis involving the trigeminal ganglion. All had trigeminal symptoms for 3 to 4 years. These were severe headache and intractable trigeminal neuralgia. Tumors in all 4 cases were spread in the centripetal type from extracranial neurofibromatosis. The facial nerve was affected in 4 cases. Malignat Schwannoma occurred in 1 case. Accurate diagnosis and assessments were necessary with CT, MRI art oomputer-aided simulation design. Intraoperative bleeding was minimal with hypotensive anesthesia. Surgical approach to the middle cranial fossa involved temporary removal of the zygomatic arch and TMJ disarticulation with downward traction of the mandible. Satisfactory results have been obtained far 3 to 7 years(mean 5 years) follow-up.

Case Report : A Case of Eccrine Spiradenoma in a Patient with Neurofibromatosis

( Jong Wook Park ),( Sun Nam Koong ),( Ji Min Chung ),( Kyung Eun Jung ),( Sang A Oh ),( Yong Woo Cinn ),( Myung Hwa Kim ) 대한피부과학회 2010 Annals of Dermatology Vol.22 No.2

Neurofibromatosis is a systemic hereditary disorder with varied manifestations in bone, soft tissue, the nervous system and skin. Cutaneous manifestations of neurofibromatosis are characterized by cafe-au-lait macules, multiple neurofibromas, Lisch nodules and intertriginous freckling. Some benign or malignant tumors such as juvenile xanthogranuloma, pheochromocytoma, and malignant melanoma can accompany neurofibromatosis. But, in the English literature, no case of eccrine spiradenoma associated with neurofibromatosis has been reported. Eccrine spiradenoma is a benign uncommon neoplasm of skin adnexa. It presents as a painful, slow-growing and solitary nodule on the head or upper trunk. Here, we report a rare case of eccrine spiradenoma in a patient with neurofibromatosis. (Ann Dermatol 22(2) 191~193, 2010)

신경섬유종증에 병발한 연소성 황색육아종

전범진 ( Bum Jin Juhn ),백종현 ( Jong Hyun Paik ),이무형 ( Mu Hyoung Lee ) 대한피부과학회 1998 대한피부과학회지 Vol.36 No.1

Neurofibromatosis is a systemic hereditary disorder with varied manifestations in bone, soft tissue, the nervous system, and skin. Neurofibromatosis is characterized by cafe au lait macules, neurofi- bromas, Lisch nodules, optic gliomas, bony dysplasia, intertriginous freckling, and autosomal inheritance. Juvenile xanthogranuloma(JXG) is a benign, self-healing disorder of infants, children, and occa- sionally adults, characterized by yellowish papulonodular lesions located in the skin and other organs and consisting of an infiltrate of histiocytes with a progressively greater degree of lipidation in the absence of metabolic disorders. In 1954 Normland reported the first case of a JXG in a child with numerous cafe au lait macules. Royer, in 1958, reported the triple association of JXG, neurofibromatosis, and leukemia. It is estimated that children with neurofibromatosis and JXG have a higher risk for leukemia than do patients with neurofibromatosis who do not have JXG. In patients with both JXG and neurofibromatosis, long-term follow-up is required because of the additional association with leukemia. We report a case of JXG associated with neurofibromatosis. (Korean J Dermatol 1998;36(1): 129-132)

[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 of segmental neurofibromatosis presenting as skin tags

( Suk Young Lee ),( Hyun Ok Son ),( Sin Wook Chun ),( Jong Baik Kim ),( Han Gyu Choi ),( Han Kyoung Cho ),( Byung In Ro ) 대한피부과학회 2015 대한피부과학회 학술발표대회집 Vol.67 No.1

Segmental neurofibromatosis is a rare disorder characterized by cafe-au-lait spots and neurofibromas, or only neurofibroma, limited to one region of the body, often in a unilateral, dermatomal distribution. Systemic involvement in patients with segmental neurofibromatosis is uncommon, and most patents do not have a family history of neurofibromatosis. Because of the variety of clinical manifestation, it can be misdiagnosed by physicians. A 37-year-old female patient has presented with multiple flesh-colored wrinkled masses on the right side of the lower back, thoracic 6, 7th dermatome. The patient had noticed that these baglike masses were bigger and swollen during pregnancy. The initial diagnosis was a skin tag, based on the clinical findings. Biopsy was done, and the specimen showed neurofibroma. There were no cafe-au-lait spots, axillary freckles, Lisch nodules or family history of neurofibromatosis. Because growth hormone concentration increases during pregnancy, it is possible that these tumors increase in size and number during pregnancy, and shrink after giving birth. We report a case of segmental neurofibromatosis, which the first clinical impression had been a skin tag.

제1형 신경섬유종증 환아의 구강내 병소의 치험례

권순연,김태완,김영진,김현정,남순현 大韓小兒齒科學會 2008 大韓小兒齒科學會誌 Vol.35 No.3

신경섬유종증은 상염색체 우성 유전성 질환으로,17번 염색체의 장완에 위치한 종양 억제 유전자의 변성에 의해 발생한다. 이는 두가지 형이 있으며 신경섬유종의 발생은 제1형 신경섬유종증의 임상적 진단 기준 중 하나이다. 신경섬유종증의 임상적 증상으로는 피부병소,골변형,중추신경계의 종양 등이 있으며 환자의 25%가 구강내 신경섬유종을 보인다. 악골내 신경섬유종은 드물며 방사선학적으로 하악공,하악관,이공을 포함하고 단방성으로 잘 경계된 방사선 투과성으로 나타난다. 신경섬유종은 하나 또는 그 이상의 병소에서 신경육종으로 전이된다는 점에서 임상적으로 중요하며 현재 특이한 치료법은 없으나,외과적 절제술이 좋은 치료법으로 여겨지고 있다. 본 증례는 제1형 신경섬유종증 진단을 받은 환아로,구강내 신경섬유종의 외과적 절제 후 양호한 결과를 보여 이를 보고하는 바이다. Neurofibromatosis is an autosomal dominant disorder caused by a mutation of a tumor supressor gene on the long arm of chromosome 17. There are two types of neurofibromatosis, and development of neurofibroma is one of clinical diagnostic criteria for neurofibromatosis. The clinical signs of neurofibromatosis include as skin lesions, bone deformities, and tumors involving central nervous system. About 25% of neurofibromatosis involves oral neurofibroma. Radiographically, oral neurofibroma is well-defined unilocular radiolucency, which involves mandibular canal, mandibular foramen and mental foramen. When a lesion is small and approachable, complete resection, including lcm of marginal connective tissue, is feasible. However, there are studies reporting that the recurrence rate after surgical resection is high and frequent recurrence may even increase the risk of malignant transformation. This case reports a patient with neurofibromatosis type I, accompanying oral neurofibroma, who shows a favorable result after surgical resection of the oral lesion.