• Journal of Korean Neurosurgical Society
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• v.56 no.1
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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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• v.49 no.2
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• pp.212-216
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• 2006

Neurocutaneous melanosis is a rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi and benign pigment cell tumors of the leptomeninges. Neurocutaneous melanosis is thought to represent an error in the morphogenesis of embryonal neuroectoderm. We experienced a neonate who presented with giant, dark colored pigmented nevi covering chest, abdomen, neck and arms, with satellite lesions. Magnetic resonance image showed a nodular hyperintense lesion in the amygdala of the right temporal lobe, and T1-weighted images showed hyperintensities in the adjacent leptomeninges. We report a rare case of neurocutaneous melanosis with a brief review of related literature.

• Annals of dermatology
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• v.30 no.6
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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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• v.59 no.6
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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.

• Archives of Craniofacial Surgery
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• v.19 no.2
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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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• v.21 no.4
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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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• v.13 no.1
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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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• v.45 no.4
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• pp.535-539
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• 2002

Incontinentia pigmenti is a rare neurocutaneous syndrome characterized by vesiculobullous skin disease in neonates and infants, a noninfectious disease that should be distinguished from infectious diseases with the neonatal seizure or encephalopathy. This disease is X-linked dominant with Xq28 region abnormalities and often associated with developmental defects of the ocular, skeletal, dental, and central nervous system. Central nervous system involvement in the neonatal period, or complicated by encephalopathy, may cause severe neurologic impairment, retardation or even death. We experienced a case of incontinentia pigmenti in a three-day-old female patient who had characteristic papulovesicular skin lesions and partial seizures with secondary generalization. Histopathological examination favored the diagnosis of incontinentia pigmenti and a brain MRI showed undifferentiated white matters with periventricular nodular lesions.

• Archives of Plastic Surgery
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• v.35 no.3
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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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• v.51 no.7
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• pp.766-770
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• 2008

Primary tumors of the heart are uncommon among pediatric patients. Rhabdomyoma is the most frequent cardiac tumor in infants and children, which is commonly associated with tuberous sclerosis. Tuberous sclerosis is a neurocutaneous syndrome affecting the brain, heart, skin, and other organs. Cardiac rhadomyomas are reported in 50-64% of infants with tuberous sclerosis. Tuberous sclerosis involves multiple locations in the atrium, ventricle and septum, and may induce mechanical obstruction of the outflow tract and heart failure depending on the location, number, size, and degree of invasion of tumors. Arrhythmias may also develop in infants with cardiac rhadomyomas, but only a few of these patients require prolonged anti-arrhythmic therapy because arrhythmia often disappears with spontaneous regression of the tumors, and the ultimate prognosis may be decided by the cerebral manifestations.