• 한방안이비인후피부과학회지
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• 제29권3호
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• pp.27-41
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• 2016

Objectives : The purpose of this research is to understand melanin with both Korean and Western medicine.Methods : We investigated the comprehension of melanin in both western and Korean medicine through literature review and studied relationships between melanin and five viscera(五臟), especially liver(肝), spleen(脾), kidney(腎). We Also studied representative pigmentary disorders(melasma, vitiligo) in western and Korean medicine to figure out how to understand pigmentary disorders in oriental medicine.Results : The results are as follows. 1. Melanin is associate with liver, because free coursing(疎泄) function of liver is the origin of transport melanin to keratinocyte from melanocyte. Also, melanogenesis factors like MITF and CREB are closely associated with liver and pigmentary disorders occur frequently after stress conditions or women. 2. Melanin is absorbed and scattered in keratinocytes by the function of spleen. Pigmentary disorders result from failure of spleen and formation of phlegm-retained fluid(痰飮). 3. Kidney essence(腎精) is the origin of melanin formation. In addition, corticosteroid, the major hormone of melanogenesis is secreted by adrenalin and adrenalin belongs to kidney(腎) in Korean medicine. 4. Melasma is created by disorder of melanin transport and absorbtion, so melasma is associated liver (肝) and spleen(脾). Therefore the treatment for melasma may focus on improvement function of liver and spleen. 5. The destruction of melanocyte or abnormal melanogenesis by disorder of the immune system, metabolic and affective disorders can make vitiligo, so vitiligo is associated with liver and kidney which are major part of melanin formation. Therefore the treatment of vitiligo can focus on improvement function of liver(肝) and kidney(腎).Conclusion : We compared Korean and western medicine to understand melanin. We also interpreted the mechanism of melanin and pigmantary disorders in western medicine and considered the relationship with visceral manifestation theory(臟象論) in traditional Korean medicine. Further studies are needed to apply comprehension of melanin to clinical stage.

• Medical Lasers
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• 제10권2호
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• pp.120-122
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• 2021

Partial unilateral lentiginosis (PUL) is an unusual pigmentary disorder characterized by numerous lentigines on the skin, with onset usually during early childhood. It is characterized by unilateral segmental distribution with sharp margins in one or more dermatomes. Conventional laser treatments result in several adverse effects, such as mottled pigmentary changes (hyper or hypopigmentation), especially in people of Asian descent. A 57-year-old man with PUL on the neck was treated with a high-fluence 1,064-nm Q-switched (QS) neodymium-doped yttrium-aluminum-garnet (Nd:YAG) laser. After 20 treatment sessions, the lesions markedly improved without adverse effects or recurrence. We suggest that high-fluence 1,064-nm QS Nd:YAG laser treatment is an effective and safe modality for PUL.

• 대한화장품학회지
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• 제23권2호
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• pp.63-70
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• 1997

It has been observed that local increase in melanin synthesis or uneven distribution can cause local hyperpigmintation or spot. Pigmentary disorders are caused by various factors, including inflammation, imbalance of hormones, and genetic disorder. Recently the harmfulness of Ultraviolet radiation is increasing due to destruction of ozone layer. Excessive exposure to UV radiation caused post-inflammatory pigmentation. Most women want to avoid uneven skin pigmentation. To satisfy this desire many cosmetic companies have been developing melanogenesis inhibitors and finding promising active agents for use in cosmetic preparations for skin whitening. In cosmetic preparations, many inhibitors such as kojic acid, arbutin, ascorbic acid, and licorice extracts6 have been used as whitening purpose. Plant extracts having an inhibitory effect on melanin formation may be a good choice for cosmetic purpose because of their relatively lower side effects. Therefore, we screened 285 plant extracts for their inhibitory activity in tyrosinase. Of the plant extracts, ramulus mori extracts showed potent tyrosinase inhibition activity. We also identified the active compound in the extract.

• Journal of Genetic Medicine
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• 제14권2호
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• pp.86-89
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• 2017

Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS type IV (Waardenburg-Shah syndrome) additionally represents Hirschsprung's disease. Mutations in the SOX10, END3, or EDNRB genes are known to cause WS type IV. Here, we report a 6 year-old girl who was diagnosed as WS type IV by typical clinical manifestations, including skin hypopigmentation, heterochromia of both irides, unilateral sensorineural hearing loss, mild developmental delay and Hirschsprung's disease. The diagnosis was confirmed by molecular genetic analysis of EDNRB. Two novel EDNRB mutations were identified, and each mutation was segregated from each of her parents. During the follow-up period, the patient underwent a surgery for spleen torsion and was medically managed due to recurrent enterocolitis. Also, she suffered from impaired immunity including Hirschsprung's associated enterocolitis.

• 대한영상의학회지
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• 제82권5호
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• pp.1321-1327
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• 2021

신경섬유종증 1형은 비교적 흔한 유전 질환이며 신경섬유종 형성, 피부의 색소 이상, 홍채의 리쉬결절 및 골격 이상들을 특징으로 한다. 다발성 피부 신경섬유종은 양성 신경초 종양이며 신경섬유종증 1형의 특징적인 병변이다. 신경섬유종증 1형과 관련된 심장 신경섬유종은 매우 드물며 문헌에 몇 가지 사례가 보고되었다. 이에 저자들은 신경섬유종증 1형을 가진 32세 여성에서 수술로 확진된 좌심실 신경섬유종의 컴퓨터단층촬영 및 자기공명영상 소견을 보고한다.

• Biomolecules & Therapeutics
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• 제22권4호
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• pp.328-333
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• 2014

Vitiligo is a pigmentary disorder induced by a loss of melanocytes. In addition to replacement of pure melanocytes, cocultures of melanocytes with keratinocytes have been used to improve the repigmentation outcome in vitiligo treatment. We previously identified by in vitro studies, that adipose-derived stem cells (ADSCs) could be a potential substitute for keratinocytes in cocultures with melanocytes. In this study, the efficacy of pigmentation including durability of grafted melanocytes and short-term safety was examined in the nude mouse and Sprague-Dawley rat after grafting of primary cultured human melanocytes, with or without different ratios of primary cultured human ADSCs. Simultaneous grafting of melanocytes and ADSCs, which were separately cultured and mixed on grafting at the ratios of 1:1, 1:2, or 1:3, showed better efficacy than that of pure melanocytes. Grafting of melanocytes cocultured with ADSCs resulted in a similar outcome as the grafting of cell mixtures. Skin pigmentation by melanocytes : ADSCs at the ratios of 1:1 and 1:2 was better than at 1:3. No significant difference was observed between the 1-week and 2-week durations in coculturing. Time-course microscopic examination showed that the grafted melanocytes remained a little longer than 6-week post-grafting. No inflammatory cell infiltration was observed in the grafted skin and no melanocytes were detectable in other organs. Collectively, grafting of melanocytes and ADSCs was equally safe and more effective than grafting of melanocytes alone. Despite the absence of significant differences in efficacy between the group of 1:1 and that of 1:2 ratio, 1:2 ratio for 1-week coculturing may be better for clinical use from the cost-benefit viewpoint.

• Medical Lasers
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• 제9권2호
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• pp.166-171
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• 2020

Background and Objectives Melasma is an acquired pigmentary disorder characterized by brown or dark brown colored macules and patches which mostly involve the face. Compared to nanosecond lasers, picosecond lasers have fewer adverse effects on surrounding tissues and give better results for melanin fragmentation. The purpose of this study was to evaluate the efficacy of the pico-toning technique using a low fluence 1,064-nm Nd:YAG laser on melasma patients. Materials and Methods This study is a retrospective analysis of melasma cases treated using the pico-toning technique from June 2017 to November 2020. Based on photographic images, the modified Melasma Area and Severity Index (mMASI) score was blind evaluated by two independent plastic surgeons. Patient satisfaction was assessed through a 5-point Likert scale questionnaire after treatment sessions. All adverse effects and complications were reviewed based on medical records. Results A total of 23 patients were included in the study. The mMASI scores for baseline and 2 months after the last procedure were 5.1 ± 1.4 and 2.6 ± 0.4, respectively. The mean mMASI score reduced significantly after the treatment session (p < 0.05). The patient satisfaction score with the procedure was 3.8 ± 1.0. The subject satisfaction score and difference in the mMASI score before the procedure and 2 months after the last procedure showed a significant correlation. Adverse effects observed in this study were erythema (n = 1) and edema (n = 1). Conclusion The results of the study show that the pico-toning technique is effective in Asian patients with melasma. We believe that safety was enhanced by using low fluence, and thus better results were achieved with fewer adverse effects.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.22-37
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• 2007

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed ‘anticipation’ so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.