• Journal of Korean Neurosurgical Society
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• 제56권1호
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• pp.61-65
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• 2014

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.

• Clinical and Experimental Pediatrics
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• 제49권2호
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• pp.212-216
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• 2006

신경피부멜라닌증은 피부와 중추신경계를 침범하는 드문 선천성 증후군으로 연수막에 멜라닌증 또는 흑색종과 동반하여 피부에 거대 또는 다수의 색소성 모반이 존재하며, 피부에서 악성 변화의 증거가 없고, 뇌수막 외에 다른 부위에 악성 흑색종의 증거가 없는 경우로 정의된다. 발생기전은 배아신경 외배엽의 형태발생 착오로 생기는 것으로 알려져 있다. 저자들은 복부, 흉부와 팔 전체에 검은색 모반이 덮여있고, 전신에 다양한 크기의 위성병변이 출생시부터 존재한 신생아를 경험하였다. 뇌 자기공명영상은 오른쪽 측두엽의 편도에 결절모양의 고신호 강도를 보였고, 지방억제 T1 강조영상은 연수막 주위의 고신호 강도를 보였다. 저자들은 거대 선천성 색소성 모반을 가진 신생아에서 뇌자기공명영상으로 진단받고 3차례의 소파술과 인공피부이식술을 받은 드문 선천성 증후군인 신경피부멜라닌증 환자 1례를 경험하고 문헌 고찰과 함께 보고하는 바이다.

• Annals of dermatology
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• 제30권6호
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• pp.704-707
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• 2018

Parry Romberg Syndrome (PRS), also known as idiopathic progressive hemifacial atrophy, is a rare neurocutaneous disorder characterized by loss of skin and subcutaneous fat of face, muscles, and bones causing unilateral atrophy. Most patients require only soft tissue augmentation although syndrome has varying grades of severity. In the majority of reported cases, it has been treated with surgical flap or autologous fat transplantation. However, these treatments need complicated surgical skills which take a lot of time and cost. Herein we report the first case of PRS augmented by hyaluronic acid (HA) filler in a 42-year-old female patient to suggest that HA filler could be a safe, simple, and even rational economic alternative to surgical treatment.

• Clinical and Experimental Pediatrics
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• 제59권6호
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• pp.276-279
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• 2016

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders.

• 대한두개안면성형외과학회지
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• 제19권2호
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• pp.135-138
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• 2018

Parry-Romberg syndrome is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration of the tissues usually on only one side of the face. It is usually difficult to restore the facial contour due to skin tightness. In this case report, we report a forehead reconstruction with custom-made three-dimensional (3D) titanium implant of a Parry-Romberg syndrome patient who was treated with multiple fat grafts but had limited effect. A 36-year-old man presented with hemifacial atrophy. The disease progressed from 5 to 16 years old. The patient had alopecia on frontal scalp and received a surgery using tissue expander. The alopecia lesion was covered by expanded scalp flap done 22 years ago. Also, he was treated with fat grafts on depressed forehead 17 years ago. However, it did not work sufficiently, and there was noted depressed forehead. We planned to make 3D titanium implant to cover the depressed area (from the superior orbital rim to the vertex). During the operation, we confirmed that the custom-made 3D implant accurately fit for the depressed area without any dead spaces. Previously depressed forehead and glabella were elevated, and the forehead contour was improved cosmetically. A custom-made 3D titanium implant is widely used for skull reconstruction and bring good results. In our case, the depressed forehead of a Parry-Romberg syndrome patient was improved by a 3D titanium implant.

• Journal of Chest Surgery
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• 제21권4호
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• pp.766-771
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• 1988

Von Recklinghausen`s neurofibromatosis, tuberous sclerosis and encephalotrigeminal angiomatosis[Sturge-Kalischer-Weber syndrome] are frequently classified under the heading of organic neurocutaneous syndromes. Both neurofibromatosis and tuberous sclerosis are believed to represent instances of simple autosomal dominant heredity. Multiple neurofibroma and cafe*-au-lait spots are the hallmarks of the van-Recklinghausen`s disease. The characteristic features of the fully developed syndrome are [1] pigmentation of the skin, including cafe*-au-lait spots, pigmented freckles and males, and occasionally a generalized darkening of the skin; [2] subcutaneous nodules and deep neurofibromatous tumors and diffuse plexiform growths of neural tissue; [3] skeletal anomalies, especially scoliosis; and [4] predilection to malignancy. In recent years cystic lung disease, usually of the so-called honeycomb lung variety, has been reported on several occasions in patients with tuberous sclerosis. This association has been shown to our sporadically as well as in members of a single family. Little attention has been paid to the presence of cystic lung disease in association with neurofibromatosis. Currently, most think of thoracic involvement in neurofibromatosis in terms of posterior mediastinal neuroma, pheochromocytoma, meningocele or, less commonly, parenchymal pulmonary neurofibromatosis. Author have experienced a case of von Recklinghausen`s disease. This case developed a huge neurofibroma in the both side thorax and invaded to the Lt. 7th rib.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.36-40
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• 2016

Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation, and multiple hamartomas or benign tumors in the skin, brain, retina, heart, kidney, and lungs. The TSC2 gene on chromosome 16p13.3 lies adjacent to the PKD1 gene which is responsible for autosomal dominant polycystic kidney disease (MIM#173900). The TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1 CGDS, MIM#600273) is caused by deletion of both TSC2 and PKD1 gene. We recently experienced a 15 month-old boy and a 26 month-old girl with TSC2/PKD1 CGDS confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis. They showed not only typical neurologic manifestations of TSC such as epilepsy, subependymal nodules, and subcortical tubers, but also polycystic kidney disease. The contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with enlarged polycystic kidneys and TSC. MLPA analysis is a useful method for the genetic confirmation of TSC2/PKD1 CGDS.

• Clinical and Experimental Pediatrics
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• 제45권4호
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• pp.535-539
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• 2002

저자들은 생후 3일째 시작된 경련과 특징적인 피부 병변을 주소로 입원한 환아에서 피부 생검과 뇌 자기 공명 촬영으로 중추 신경계 발달 이상을 동반한 색소 실조증 1례를 경험하였고 중추 신경계 발달 이상은 치명적인 예후 인자로 사료되며 이를 문헌 고찰과 함께 보고하는 바이다.

• Archives of Plastic Surgery
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• 제35권3호
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• pp.341-344
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• 2008

Purpose: Tuberous sclerosis is an autosomal dominant multisystemic neurocutaneous syndrome characterized by the development of multiple hamartoma distributed through the body, skin, brain, heart, kidney, and lung. The classic triad is seizure, mental retardation, and facial angiofibroma. We experienced a case of a tuberous sclerosis associated with the facial lesion and multiple masses on scalp, forehead, and right lower extremity. Methods: This a 34-year-old male patient had subependymal giant cell astrocytoma in brain and multiple angiomyolipoma in both kidneys. Tangential excision with razor blade and dermabrasion were done on the centrofacial area. We excised other lesions and the mass on scalp was excised and covered with split thickness skin graft. Results: The histopathological finding revealed that the facial lesion was angiofibroma and the others were multiple fibroma. Conclusion: In our case of tuberous sclerosis, we chose the tangential excision to remove the large nodules of angiofibroma, and then dermabrasion was used to smooth the final contour. The patient appeared to have a good results from this treatment modality. But, tuberous sclerosis is an disease that needs long term follow-up to check up the recurrence of skin problem.

• Clinical and Experimental Pediatrics
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• 제51권7호
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• pp.766-770
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• 2008

심장의 원발성 종양은 소아에서는 매우 드문 질환이다. 횡문근종은 태아, 영아 및 소아 연령에서 가장 흔한 원발성 심장 종양으로 결절성 경화증이 동반되는 것으로 보고되고 있다. 결절성 경화증은 뇌, 심장, 피부 및 기타 장기들을 침범하는 신경피부 증후군으로, 결절성 경화증을 가진 영아의 50-64%에서 동반된다. 심장 횡문근종은 종괴는 심방을 비롯하여 심실 중격과 심실벽에 다발성으로 존재하며 종양의 위치와 크기, 침범 정도에 따라 심장 유출로 협착 및 심부전과 같은 여러 가지 임상 양상을 보일 수 있다. 드물지만 부정맥을 주증상으로 발현하는 경우도 보고되고 있다. 하지만 대부분 심장의 횡문근종이 특별한 문제를 일으키지 않고 성장과 함께 쇠퇴되는 경향을 보이므로 극히 일부분에서만 장기적인 항부정맥제 사용이 요구된다. 환자의 최종적인 예후는 동반되는 뇌병변에 의해 결정되는 경향이 있다. 저자들은 상심실성 빈맥으로 입원치료 중 진단된 심장 횡문근종을 가진 결절성 경화증 1예를 경험하였기에 보고하는 바이다.